Breast symptoms - Independent learning program for GPs

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Breast symptoms - Independent learning program for GPs
Independent learning program for GPs

                                       Unit
                                       Unit474
                                            464September
                                               November 2011
                                                         2010

                          Bipolar
                           Breast
                        disorders
                       symptoms

                                                    www.racgp.org.au/check
Breast symptoms - Independent learning program for GPs
Independent learning program for GPs

                                                                                                                 Medical Editor
                                                                                                                 Catherine Dodgshun

Bipolar symptoms
Breast   disorders                                                                                               Editor
                                                                                                                 Nicole Kouros
Unit 474
     464 September
         November 2010
                   2011                                                                                          Production Coordinator
                                                                                                                 Morgan Liotta

From the editor                                                                                             2    Senior Graphic Designer
                                                                                                                 Jason Farrugia
Case 1                  Chris’ has
                        Marie  concern
                                   found a lump                                                             3    Graphic Designer
Case 2	Elizabeth
        Dorothy ispresents
                   experiencing
                           with nipple
                                pain indischarge
                                        her groin                                                           6    Beverly Jongue
                                                                                                                 Authors
Case 3                  Jill’s knee lactational
                        Joanne’s     pain       breast abscess                                              9
                                                                                                                 Leila Cusack
Case 4                  Angela
                        Kate has
                               presents
                                 pain in her
                                         withleft
                                              painful
                                                  breast
                                                      and stiff joints                                      12   Meagan Brennan
                                                                                                                 Reviewer
Case 5                  Jan has
                        Does Barbara
                                ongoing
                                     have
                                        knee
                                          breast
                                             paincancer?                                                    16
                                                                                                            15
                                                                                                                 Rebecca Stewart
References
Case 6     Jacinta is concerned she’s at risk                                                               21
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The five domains of general practice             Communication skills and the patient-doctor relationship        Practitioners 2011. All rights reserved.
   Applied professional knowledge and skills     Population health and the context of general practice
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from the editor                                                                                  check Breast symptoms

This unit of check looks at patients presenting with breast symptoms such as a breast lump,
nipple discharge and mastalgia. Breast symptoms are common presenting symptoms in general
practice, and competence in management of breast complaints, and particularly those that
suggest malignancy, is paramount. The ‘triple test’ remains the cornerstone in the assessment
of new breast symptoms and confidence in using it will contribute to accurate diagnosis and
appropriate treatment of breast lesions.
This unit also provides an outline of assessment of breast cancer risk an explores some of the
options for management of breast cancer.
The authors of this unit are:
• Dr Leila Cusack BSc, MBBS(Hons), Junior Medical Officer, Royal North Shore Hospital, New
  South Wales. Her research and clinical interests include breast care, as well as emergency
  medicine
• Dr Meagan Brennan, BMed, FRACGP, DFM, a breast physician at the Poche Centre, North
  Sydney and Westmead Hospital. She is also Clinical Senior Lecturer, Sydney Medical School,
  University of Sydney, New South Wales. Her clinical and research interests include diagnosis
  of breast conditions, survivorship care after breast cancer treatment, and management of
  women at high genetic risk of breast cancer.
The authors would like to acknowledge the contribution of Associate Professor Judy Kirk from
the Familial Cancer Service, Westmead Hospital, New South Wales in the preparation of Case 6.
The learning objectives of this unit are to:
• display increased confidence in assessing and managing common breast symptoms such
  as a breast lump, nipple discharge and mastalgia
• demonstrate knowledge of the components of the triple test, recognise the crucial role of
  the triple test in investigating any new breast symptom and display increased confidence in
  utilising the triple test and interpreting its results
• appropriately classify an individual into one of the three categories developed by the
  National Breast and Ovarian Cancer Centre pertaining to breast cancer risk, and to display
  an increased awareness of the options for managing their risk
• display increased confidence in the diagnosis and timely referral of a person with suspected
  breast cancer and breast abscess
• display increased awareness of the role of a familial cancer clinic
• display increased knowledge of the risk factors for breast cancer, and an increased
  awareness of some of the options for managing breast cancer.
We hope that this unit of check will assist you to confidently assess and manage patients who
present with breast symptoms in general practice.

Kind regards

Catherine Dodgshun
Medical Editor

2
check Breast symptoms                                                                                                        Case 1

                                                                 Question 3
  Case 1
                                                                 What investigations would you recommend? What is the ‘triple test’?
  Marie has found a lump
  Marie is 24 years of age. She is an administrative assistant
  who presents to you worried about a lump she has found
  in her left breast. She is an otherwise healthy nonsmoker
  with no significant medical history, and no family history
  of breast cancer. She is married with a 3 year old daughter
  who she breastfed for 10 months.
  Marie noticed the lump while dressing 4 days ago. There
  is no associated pain, tenderness or nipple discharge and
  she is systemically well. She is currently in the first week
  of her menstrual cycle. She has had no previous breast
  problems and has never had any investigations of her
  breasts.
                                                                 Question 4
  On examination there is a 10 mm firm, smooth, oval,
                                                                 What are the three different types of breast biopsy and what are the
  nontender lump palpable in the upper outer quadrant of
                                                                 advantages and limitations of each biopsy type?
  the left breast in the 2 o’clock position, 4 cm from the
  nipple. It is mobile and not tethered to skin or muscle. The
  breasts are otherwise symmetrical. There are no other
  lumps palpable, no nipple inversion and no axillary or
  cervical lymphadenopathy.

Question 1
What is the differential diagnosis for this breast lump?

                                                                 Further information
                                                                 You request an ultrasound which shows a well defined
                                                                 hypoechoic lesion 12 mm in diameter. You request a core biopsy
                                                                 to be performed by your local radiology provider who employs
                                                                 a radiologist experienced in performing core biopsies. The
                                                                 core biopsy demonstrates benign breast tissue (glandular and
                                                                 stromal elements) consistent with a fibroadenoma.

                                                                 Question 5
                                                                 What are the options for management?

Question 2
What is the most likely diagnosis in Marie’s case?

                                                                                                                                        3
Case 1                                                                                                                 check Breast symptoms

Question 6                                                              Answer 3
What should you tell Marie about her risk of developing breast cancer   All discretely palpable lumps in the breast require assessment with
following her diagnosis of fibroadenoma?                                triple testing.4,5
                                                                        The ‘triple test’ consists of:
                                                                        • thorough history and clinical breast examination
                                                                        • breast imaging:
                                                                           – in women aged younger than 35 years – bilateral breast
                                                                              ultrasound, and bilateral mammogram if there are suspicious
                                                                              features on ultrasound
                                                                           – women aged between 35 and 50 years of age – bilateral
                                                                              mammogram plus bilateral breast ultrasound
                                                                           – women aged over 50 years – bilateral mammogram with the
                                                                              addition of bilateral ultrasound if the mammogram is normal or
                                                                              unhelpful in the presence of a clinical abnormality
    CASE 1 ANSWERS                                                      • nonsurgical (percutaneous) biopsy (fine needle biopsy or core
                                                                          needle biopsy).
                                                                        The triple test is ‘negative’ if all three components are normal
Answer 1                                                                or benign. A negative triple test excludes malignancy with over
The clinical features of Marie’s lump, such as its smooth consistency   99% accuracy.6 Most lesions in this category can be managed
and mobility, and the absence of associated lymphadenopathy and         conservatively, with clinical and imaging surveillance.7
skin changes, suggest a benign condition.1,2                            The triple test is considered ‘positive’ if any of the three components
The differential diagnosis includes the common causes of benign         is atypical, suspicious or malignant. A positive triple test requires
lumps, and must also include the unlikely diagnosis of malignancy,      further investigation, usually with surgical (open/excisional) biopsy.
as malignant lumps in young women often do not have the typically       Interpretation of the triple test is crucial, and lesions that are atypical
suspicious features seen in older women. Differential diagnoses of      or suspicious on clinical and/or imaging assessment still require
Marie’s lump include:                                                   surgical (open/excisional) biopsy even in the presence of a benign
                                                                        nonsurgical biopsy.6,7
• benign conditions
    – fibroadenoma
                                                                        Feedback
    – fibrocystic change
                                                                        Breast magnetic resonance imaging (MRI) has no role in the
    – glandular parenchyma                                              routine work-up of symptomatic breast lumps. It is used as a
    – cyst                                                              screening test in women at high genetic risk of breast cancer,
    – phyllodes tumour                                                  and it may be used to assess the extent of disease within the
                                                                        breast in women diagnosed with breast cancer.
    – abscess
• malignant conditions
                                                                        Answer 4
    – carcinoma                                                         There are two types of nonsurgical biopsy (fine needle biopsy and
    – malignant phyllodes tumour.                                       core needle biopsy), and there is surgical (open/excisional) biopsy.
                                                                        • Fine needle biopsy – this is biopsy in which a thin needle (usually
Answer 2                                                                  25G–22G) is used to remove cells from the abnormal area and
The lump is discrete and firm; a fibroadenoma is the most likely          smeared on a microscope slide for cytology assessment. The
cause. Compared with a fibroadenoma, a cyst tends to be discrete          procedure may be done under local anaesthetic although this is
but softer, glandular parenchyma is less discrete, and an abscess         often not required. If the lesion is palpable, the procedure may
is usually discrete but would usually have a history of inflammation      be clinically guided; if the lesion is not palpable ultrasound or
with or without current lactation. Benign phyllodes tumours are rare      stereotactic (mammographic guidance) can be used to ensure the
and they usually present with features similar to a fibroadenoma.         lesion is sampled accurately
Phyllodes tumours are often large at presentation (>3–4 cm in           • Core biopsy – a larger automated needle (usually 16G–14G)
diameter).3                                                               is used to remove small pieces of tissue from the abnormal
                                                                          area. The core samples are fixed in formalin for histopathology
                                                                          assessment. This test is always done under local anaesthetic.
                                                                          As with fine needle biopsy, this test can be performed under

4
check Breast symptoms                                                                                                                  Case 1

   clinical guidance (for palpable lesions) or imaging (ultrasound or      Feedback
   stereotactic) guidance (for impalpable lesions). A specialised type     Breast biopsies are usually preformed by a breast physician or
   of core biopsy is vacuum-assisted core biopsy (VACB).8,9 This is        radiologist; some surgeons (breast or general surgeons) also
   a sampling device with a larger gauge (usually 11G–10G). It uses        perform biopsy. The choice of which professional the GP should
   a vacuum to help obtain larger samples. It is particularly accurate     refer to is determined by several factors: the location of the
   for sampling mammographic microcalcification under stereotactic         GP’s practice (metropolitan or rural); the patient’s preference;
   guidance.8,9 It can also be used under the guidance of ultrasound       experience of the radiologist; and the most appropriate biopsy
• Surgical (open/excisional) biopsy – some (or all) of the abnormal        for the lesion.
  tissue is removed for histopathology assessment. This is the
  gold standard breast biopsy. This test is usually done under             Answer 5
  general anaesthetic although local anaesthesia is sometimes              In Marie’s case, the biopsy confirmed a benign diagnosis
  possible for small, superficial lumps. If the abnormal area can’t        of fibroadenoma. There are two options for management of
  be palpated easily, the area can be ‘localised.’ Localisation is         fibroadenomas. The recommendation may depend on:
  a procedure used to mark the area for excision when it is not
                                                                           • the age of the patient
  palpable. This can be done by locating the lesion with ultrasound
  or mammogram and marking the area on the skin with a                     • the size of the lesion
  guidewire or a radioisotope injection. Localisation is done before       • the symptoms the lesion is producing (eg. a lump, pain or anxiety)
  or during the operation and the surgeon removes the tissue that          • the imaging and biopsy results.
  has been marked. The specimen can then be imaged with X-ray              It is recommended that a fibroadenoma be removed if:
  or ultrasound to ensure that the lesion can be seen within the
                                                                           • it is >3 cm in diameter
  specimen.
                                                                           • it is causing symptoms such as pain
Limitations and advantages of biopsy types are outlined below.
                                                                           • the biopsy result is concerning
• Fine needle biopsy – a relatively quick procedure that can be
  performed in a few minutes and does not require any special              • the woman is older than 40 years of age
  preparation. Sometimes this procedure does not collect enough            • it is increasing in size while being monitored.7
  material for a definitive diagnosis (inadequate sample) and              As Marie is young, the lump is not painful, and she has a negative
  sometimes, even though cells are visible within the sample, the          triple test, she could be managed conservatively. This would include
  results may not be able to confirm or exclude malignancy (atypical       clinical examination and ultrasound at 6–12 months. Repeat
  sample). Bruising is a common adverse effect. Pneumothorax is a          percutaneous biopsy or excision would only be indicated if the lesion
  serious but extremely rare complication of this procedure                increases in size on follow up imaging. If the lesion is stable on
• Core biopsy – removes pieces of tissue (rather than just cells           surveillance over 1–2 years she could be dismissed from imaging
  as with fine needle biopsy) and therefore it is more likely to give      surveillance until she reaches screening age (50 years).7
  a definitive diagnosis. However, there is still a chance that this
  procedure may not give a definite answer and more tests may be           Answer 6
  required. It takes longer than fine needle biopsy (usually 20–30
                                                                           Marie’s fibroadenoma does not increase her risk of developing breast
  minutes), always requires local analgesia and may be associated
                                                                           cancer.10 Fibroadenomas contain some normal breast tissue cells,
  with more discomfort and bruising. Often simple analgesia is
                                                                           and these cells can potentially develop cancer, like all the cells in
  required to manage discomfort. Pneumothorax is a serious but
                                                                           the breast. The chance of cancer developing within a fibroadenoma
  very rare complication with core biopsy as well
                                                                           is extremely small and is no higher than the chances of cancer
• Surgical (open/excisional) biopsy – removes the lesion fully or          developing anywhere in the breast.10
  takes a large representative sample for histological assessment
  allowing for a definitive diagnosis. An additional benefit of this
  type of biopsy is that the entire lesion can often be removed
  so there may be no need for future concern and monitoring.
  However, surgical biopsy is a more invasive procedure and
  requires hospitalisation; it carries with it the risks associated with
  any general anaesthetic. The recovery is longer, with increased
  discomfort and surgery has the cosmetic disadvantage of leaving
  a scar on the breast.

                                                                                                                                               5
Case 2                                                                                                          check Breast symptoms

                                                                    Question 2
    Case 2
                                                                    What are the clinical features of pathological nipple discharge?
    Elizabeth presents with nipple discharge
    Elizabeth is a patient who is well known to you. She has
    made an urgent appointment to see you about her nipple
    discharge. She is 52 years of age, obese and continues to
    smoke heavily, regardless of your encouragement to stop.
    Elizabeth is a mother of 3 children who she bottle fed.
    She has a paternal grandmother who had a mastectomy,
    although details of the history are not available. Elizabeth
    started attending BreastScreen when she turned 50 years
    of age and her most recent screen, 6 months ago, was
    normal. She is still menstruating but her cycle has become
    quite irregular over the past year.                             Question 3
    Elizabeth presents with a discharge from her right nipple,      List the causes of nipple discharge.
    describing it as ‘pinkish’. Upon further questioning, she
    says that this is a spontaneous discharge and she has
    noticed discolouration on her nightie. It happened last night
    and also once last week. It was a small amount, leaving
    a stain about the size of a 20 cent piece on her clothing.
    Elizabeth has never had any breast problems before and
    she is very concerned.
    On clinical examination, the breasts, including the nipples,
    have a normal appearance with no asymmetry, no dry
    or erythematous nipple skin, and no palpable lumps. On
    gentle expression of the nipple by the patient, a drop of
    pink fluid was noted coming from a single duct at the 11
    o’clock position on the right nipple. There were no other
    abnormalities on examination.

Question 1
Is nipple discharge always abnormal?                                Question 4
                                                                    What investigations would you recommend for Elizabeth?

                                                                    Further Information
                                                                    You request a mammogram and ultrasound, and cytology of the
                                                                    discharge which all reported as revealing no abnormalities.

6
check Breast symptoms                                                                                                                Case 2

Question 5                                                               Answer 2
What is the next step in her management?                                 Pathological nipple discharge has the following features:
                                                                         • blood stained, serous or crystal clear appearance
                                                                         • spontaneous occurrence without squeezing of the nipple or
                                                                           pressure on the breast
                                                                         • occurrence from a single nipple duct.12
                                                                         Pathological discharge may be associated with other clinical findings
                                                                         such as a lump or a change in the shape or skin of the nipple.

                                                                         Answer 3
                                                                         The causes of nipple discharge are outlined below.13,14
                                                                         • Physiological discharge (as mentioned in Answer 1)
                                                                         • Duct ectasia – a benign condition, often occurring after
                                                                           menopause, due to the enlargement of milk ducts under the
                                                                           nipple and inflammation in the walls of the ducts. Usually,
                                                                           the discharge is bilateral, from more than one duct and will
   CASE 2 ANSWERS                                                          be coloured either yellow, green or brown. In most cases, no
                                                                           treatment is needed. If discharge is a nuisance, the ducts behind
                                                                           the nipple can be removed surgically
Answer 1                                                                 • Duct papilloma – a growth within a milk duct that may remain
The function of the breast is to lactate. Nipple discharge is              asymptomatic, or may cause nipple discharge that is clear or
therefore common and is usually part of a normal hormonal process          blood stained and usually comes from a single duct, unilaterally.
(‘physiological’ discharge). Fluid can be obtained from approximately      Papillomas will often be seen on ultrasound and large ones may
50–70% of normal women when breast massage or breast pumps                 be palpable. Rarely, duct papillomas can be associated with
are used.11 Pathological nipple discharge (caused by an abnormality        breast cancer so they are usually removed surgically
in the breast) is uncommon.7,12,13                                       • Nipple eczema or dermatitis – inflammation of the skin of the
Physiological discharge has the following features:                        nipple, which can cause a weeping, crusty nipple with discharge
• milky, yellow or green appearance                                        if it becomes infected. The treatment is consistent with other
                                                                           eczema management and includes cortisone based topical
• occurrence on expression only (ie. only when the nipple is
                                                                           applications as the main first line treatment
  squeezed or there is pressure on the breast such as with a
  mammogram) and does not occur spontaneously                            • Breast cancer or ductal carcinoma in situ – an uncommon, but
                                                                           important cause of nipple discharge. Less than 5% of women with
• occurrence from multiple nipple ducts and often can be seen
                                                                           breast cancer have nipple discharge and most of them have other
  emerging from more than one duct.
                                                                           symptoms, such as a lump or a newly inverted nipple as well as
Physiological discharge is normal and is no cause for concern.             the discharge. Nipple discharge without other symptoms is a rare
However, nipple discharge that is associated with other symptoms,          presentation of breast cancer
such as a lump in the breast, ulceration, or inversion of the nipple,
                                                                         • Paget disease of the nipple – a particular type of invasive or
needs prompt investigation.7,13
                                                                           in situ malignancy which involves the nipple, typically causing
Physiological discharge, like lactation, is encouraged from repeated       ulceration and erosion of the nipple skin, and may be associated
stimulation or squeezing of the nipple. Women should be advised            with a blood stained nipple discharge
to stop expressing, and to refrain from squeezing ‘to see if the
                                                                         • Hormonal causes – galactorrhoea is a milky nipple discharge that
discharge is still there’. This type of discharge will usually settle.
                                                                           is unrelated to pregnancy or breastfeeding and caused by the
Women should be advised to return for investigation if the discharge
                                                                           abnormal production of prolactin. This can be caused by diseases
becomes spontaneous, blood stained or has any of the other features
                                                                           within the glands controlling hormone secretion, such as the
that suggest pathological discharge as mentioned in Answer 2.
                                                                           pituitary and thyroid glands
                                                                         • Drugs and medications – some medications can cause
                                                                           abnormally high prolactin levels and include oral contraceptives,
                                                                           hormone replacement therapy and medications such as
                                                                           metoclopramide, selective serotonin reuptake inhibitors and
                                                                           antipsychotics. Drugs, such as cocaine and stimulants, can also
                                                                           cause high prolactin levels.

                                                                                                                                               7
Case 2                                                                     check Breast symptoms

Answer 4
The clinical picture of spontaneous single duct discharge with a blood
tinged (‘pinkish’) appearance suggests a pathological discharge.
Elizabeth’s discharge must be investigated even though there are no
other associated clinical abnormalities.
Possible investigations include:
• mammography – routine 2-view mammography; in addition,
  specialised magnification views behind the nipple may be helpful
  especially if she has dense tissue on mammography
• ultrasound – the nipple ducts should be examined for solid
  intraductal lesions
• percutaneous biopsy – if there is an abnormality on breast
  imaging
• nipple fluid cytology – a small amount of fluid can be smeared on
  a microscope slide and sent for cytological assessment. (Cytology
  is not always essential and should not be pursued if expressing
  fluid is painful for the patient.) If abnormal cells are seen this may
  be helpful although the absence of atypical or malignant cells
  should not deter further assessment
• ductogram – this is a specialised X-ray that outlines the duct
  system (looking for ‘filling defects’ following the injection of
  radio-opaque dye into the discharging duct. It is a painful
  procedure for women, and rarely changes management so this
  investigation has very few indications.
Elizabeth should be referred for mammogram and ultrasound. If there
is any abnormality on either of these tests, this should be assessed
further with percutaneous biopsy. Cytology may be performed if there
is adequate fluid. Ductography is not recommended in Elizabeth’s
case.

Answer 5
Further assessment is required for this discharge as it has a high
likelihood of being caused by intraductal pathology even in the
presence of normal imaging. The most likely diagnosis is a benign
papilloma and these frequently are tiny and not seen on imaging.14
Elizabeth requires microdochectomy, which is surgical exploration
and removal of the affected duct. It has been shown to be the best
method for accurate diagnosis.15 In the hands of an experienced
breast surgeon, this is usually a simple day surgery operation with
minimal complications. It cures the symptom and also provides the
full length of the duct for histopathology assessment.
To minimise the risk of breast pathology in the future and for her
general health, Elizabeth should be advised of the potential for
increased risk of breast cancer related to smoking. Encouragement
and advice regarding support networks may assist in her challenge to
quit smoking.16

8
check Breast symptoms                                                                                                        Case 3

                                                                    Question 2
  Case 3
                                                                    Does Joanne need any investigations?
  Joanne’s lactational breast abscess
  Joanne is 31 years of age and comes to your practice with
  her 4 week old baby boy, Ethan. He is her first baby and
  she is fully breastfeeding.
  Joanne has been suffering significant discomfort in her
  right breast for the past week. She saw one of your
  colleagues in the practice 3 days ago with swelling, pain
  and redness in the upper outer quadrant of her right
  breast. He examined Joanne and found her to be afebrile
  and to have a 5 cm area of erythema and tenderness
  in her right breast and no palpable lump. He diagnosed
  mastitis and commenced her on oral flucloxacillin.
  Since then Joanne has continued to breastfeed with
  some difficulty. The localised pain has increased and
                                                                    Question 3
  the erythema has not improved. She is now aware of a
  lump in the upper outer quadrant of her right breast and          How would you manage Joanne’s condition?
  she has been unable to reduce the size of the lump with
  massage while feeding. She reports overwhelming fatigue,
  tearfulness, fevers and generalised ‘aches and pains’.
  Ethan seems to be attaching to the breast without difficulty
  and he is settling well after feeds. Joanne is concerned
  that the antibiotics she is taking may harm Ethan.
  On examination, Joanne appears flushed and has a
  temperature of 38.4°C with a tachycardia of 104 beats
  per minute. Joanne’s right breast appears generally
  swollen.There is a firm tender 2 cm lump in the upper
  outer quadrant, 4 cm from the nipple. There is overlying
  erythema. The skin is otherwise normal and the nipple has
  a normal appearance. There are soft tender lymph nodes
  palpable in the right axilla.
                                                                    Question 4
                                                                    Should Joanne stop breastfeeding?

Question 1
What is the likely diagnosis? What are the important differential
diagnoses?

                                                                    Question 5
                                                                    If Joanne was not lactating, how would your management differ?

                                                                                                                                     9
Case 3                                                                                                                 check Breast symptoms

                                                                          breast specialists are not easily accessible, the GP should request
     CASE 3 ANSWERS                                                       an ultrasound with a request for any pus found to be aspirated at
                                                                          the time by the radiologist. In some cases where an abscess is
                                                                          suspected, there will actually be no collection (ie. no abscess) so
Answer 1                                                                  ongoing management would be with antibiotics. If an ultrasound is
                                                                          not easily accessible and a breast physician, breast surgeon and/or
The likely diagnosis is a breast abscess. Although her original
                                                                          breast specialist is easily accessible, direct urgent referral without
presentation with mastitis was managed appropriately, the clinical
                                                                          requesting an ultrasound that could potentially delay treatment, is
picture of a lump and fever suggests that this has progressed to an
                                                                          recommended.
abscess. Lactational breast abscess is characterised by the presence
of a firm, localised, discreet lump associated with fever, intense        Breast ultrasound is the imaging modality of choice because it
tenderness and erythema. It is usually preceded by mastitis that does     allows immediate aspiration and/or biopsy, and because in this
not settle.17                                                             case mammogram is of limited benefit due to the additional density
                                                                          caused by milk in the breast. A breast abscess typically appears on
While a breast abscess is overwhelmingly the most likely cause, there
                                                                          ultrasound as a focal area of altered texture which is heterogeneous
is danger in assuming that any breast problem that develops while
                                                                          and shows shadowing. This often has an indeterminate appearance
breastfeeding is related to lactation. Symptoms must therefore be
                                                                          and can be difficult to distinguish from a malignant lesion on imaging
thoroughly investigated if not improving as expected.
                                                                          alone. Correlation with the clinical picture is therefore crucial. If
Differential diagnoses include:17                                         ultrasound suggests a collection of fluid/pus, it should be aspirated
• mastitis – this condition typically emerges within the first few        and sent for microscopy and culture.
  weeks of breastfeeding, with pain, erythema, swelling, lumps and        Mammography is indicated in this situation if there is suspicion of
  fever18                                                                 malignancy on ultrasound (this is when mammography may help
• periductal mastitis – an inflammatory condition that presents with      determine the extent of disease and exclude contralateral pathology).
  nipple redness and discharge on the nipple or areola. It occurs in      Joanne will need fine needle biopsy or core biopsy to complete the
  young women and is associated with smoking in 90% of cases              triple test. If aspiration does not yield pus, core biopsy should be
• granulomatous mastitis – a rare cause of inflammation in the            performed.
  breast. A benign condition often characterised by a chronic             Blood tests are unlikely to help with the diagnosis; they may show
  relapsing course which may be improved with oral steroids. It is        elevated white cell count and C-reactive protein consistent with
  usually diagnosed on biopsy when a presumed case of bacterial           infection. Management will be determined by the clinical examination
  mastitis does not respond to antibiotic treatment                       and ultrasound findings, and blood results are unlikely to change
• inflammatory breast cancer – inflammatory cancer is a specific          management.
  clinical presentation of breast cancer. Although it is rare,
  representing only 2.5% of all cases of breast cancers,19 it should      Answer 3
  be considered in the differential diagnoses of every inflammatory
                                                                          Joanne’s condition (lactational breast abscess) requires urgent
  breast condition, especially if it is not settling, as it has a
                                                                          management.
  particularly poor prognosis (less than 5% survival at 5 years).19
  The classic presentation is one of rapid onset of an ill defined        Aspiration or surgical drainage
  breast mass, pain, breast enlargement, erythema and peau                Referral to a surgeon or breast physician is necessary to assess the
  d’orange. When an infective lesion does not resolve or does not         option of aspiration versus surgical drainage of the breast abscess.
  behave as expected, the diagnosis of inflammatory breast cancer         The traditional management of breast abscess is surgical incision and
  should be considered18–20                                               drainage. This requires admission to hospital, general anaesthetic,
• lactating adenoma – a benign condition similar to fibroadenoma          intravenous antibiotics and cessation of breast feeding. Surgical
  that develops during pregnancy and/or lactation. This usually           management is now rarely needed when a breast abscess is
  presents with a clinical lump but is not normally associated with       managed in a specialist breast unit.21 Most cases can be treated with
  inflammatory symptoms and signs.                                        serial aspiration (by a breast physician, surgeon or radiologist) under
                                                                          local anaesthetic and ultrasound guidance in an outpatient setting.21
Answer 2                                                                  Often 3–4 aspirations are required; oral antibiotics are continued for
                                                                          several weeks and breastfeeding can continue.
Joanne is systemically unwell and must be investigated urgently. She
has a breast condition that is not improving as expected and it should    Antibiotic therapy
be assessed with the ‘triple test’ approach.                              The causative organism in mastitis and breast abscess is most
There are two options depending on access to ultrasound facilities        frequently Staphylococcus aureus. Mastitis is treated with a minimum
and access to a breast physician, breast surgeon and/or breast            of 10 days of oral antibiotics; either flucloxacillin or dicloxacillin
specialist. Where ultrasound facilities are easily accessible and where   (dosage 500 mg 4 times per day).22 Cephalexin (dosage 500 mg

10
check Breast symptoms                                                                                                                   Case 3

4 times per day) is not the antibiotic of choice but is an alternative     Answer 5
when there is penicillin allergy (excluding immediate hypersensivity).     Mastitis is uncommon in the absence of lactation but it can occur. It
Longer courses of antibiotics (sometimes 4–6 weeks) are required for       can be caused by cysts that become infected, or may be related to
a breast abscess. Admission to hospital for intravenous antibiotics is     periductal mastitis or granulomatous mastitis (described in Answer1).
warranted if there is high fever or rigors, even if the abscess is being   Mastitis unrelated to lactation must be investigated fully with imaging,
managed with serial aspiration rather than operative management.21         and often a biopsy, and followed to complete resolution to ensure that
Pus should be sent for microscopy and culture when aspiration              it is benign. Inflammatory breast cancer should be considered (and
is performed. Occasionally anaerobic organisms are found and               excluded with investigation) in this setting.24
antibiotics such as metronidazole are required.
Lactation support
Breastfeeding should be encouraged to continue when mastitis and
breast abscess are present (except in the case of a breast abscess
treated with surgical drainage).17,23 This may come as a surprise
to Joanne who may be concerned that pus in the breast and/or
antibiotics in the milk will harm the baby. Joanne should be reassured
that neither of these will harm the baby, and be advised to continue
feeding, as this will empty the breast more effectively than using a
breast pump. If she wishes to wean the baby this is best done slowly
after the abscess has resolved rather than suddenly when there is
infection and further engorgement will aggravate the problem.
Attachment of the infant to the breast should be checked. Joanne
should be advised to use hot packs before feeding and cold packs
after feeding. She may require analgesia. She should also be
encouraged to drink plenty of fluids and obtain adequate rest, as both
may impact upon breast feeding.23 Joanne may need referral to a
lactation consultant.21,23
General psychological support
Joanne is at high risk for postnatal depression. She is likely to be
exhausted as the fatigue associated with caring for a newborn is
exacerbated by her infection. Women with severe mastitis and/or
breast abscess often feel a sense of failure and may need reassurance
that these are common conditions and that mastitis/breast abscess
is not a result of anything they have done wrong with feeding. Rather,
they are usually simply a reflection of breast anatomy resulting in a
segment of the breast that doesn’t drain as effectively as the rest.
Reassurance that the abscess is unlikely to recur once it heals and
that it is uncommon when feeding subsequent babies may help. She
should be encouraged to ask her partner, family and friends to help in
order to maximise the amount of rest she can obtain.

Answer 4
As discussed in Answer 3, Joanne should be advised to continue
breastfeeding with support and reassurance that this will lead to the
best outcome for her and Ethan. If she chooses to stop breastfeeding
this decision should be respected and supported, but she may be
advised to wait to stop breastfeeding until after the breast abscess
has resolved, as well as given advice on how to express, and to very
slowly reduce the volume and frequency of expressing. There is rarely
an indication for the use of bromocriptine or other medications to
suppress lactation.

                                                                                                                                               11
Case 4                                                                                                         check Breast symptoms

  Case 4
  Kate has pain in her left breast
  Kate is 41 years of age, and presents with pain in the
  lateral aspect of her left breast. It has been coming and
  going for the past few months. Kate grades the severity of
  the pain at 6 out of 10 when it is present and she has been
  managing the pain with simple analgesia and occasional           Question 3
  heat packs with good effect. She wants to make sure there
  is nothing more serious causing her symptoms and she             What are the differential diagnoses for this presentation?
  would also like a plan for managing the pain in the future.
  Kate’s breast pain does not vary during her menstrual
  cycle. It affects the upper, outer quadrant of the left breast
  and radiates into the left axilla. She does not report any
  breast lumps, nipple discharge or other symptoms. Kate
  is otherwise well, with a history of some mild bilateral
  cyclical breast discomfort in her twenties and some mild
  asthma, which is well controlled. She has no children
  and has been taking the oral contraceptive pill for over
  20 years without side effects. Kate has no family history
  of breast or ovarian cancer and has never had any breast
  investigations.
  On clinical examination, Kate is tender in a localised           Question 4
  region, 4 cm in diameter in the 2 o’clock position in the        Does the presence of mastalgia increase the risk of breast cancer?
  left breast 10 cm from the nipple. Breast examination is
  otherwise normal, with no nipple inversion, palpable lumps
  or lymphadenopathy.

Question 1
What are the key features to ask about when taking a history in
cases of breast pain?

                                                                   Question 5
                                                                   Does Kate need any investigations?

Question 2
How is mastalgia classified? Could this be breast cancer?

                                                                   Further information
                                                                   You request a mammogram and breast ultrasound which are
                                                                   both normal.

12
check Breast symptoms                                                                                                                   Case 4

Question 6                                                               Answer 2
What is the likely diagnosis?                                            Mastalgia is classified as cyclical or noncyclical according to its
                                                                         association with the menstrual cycle.26
                                                                         Cyclical mastalgia accounts for most breast pain and typically
                                                                         occurs in younger women (median age onset of 36 years) during the
                                                                         second half of the cycle, resolving with the onset of menstruation. It
                                                                         is typically reported as fullness, is usually bilateral, and commonly
                                                                         affects the upper outer quadrants. It is often associated with
                                                                         fibrocystic changes and/or duct ectasia.
                                                                         Noncyclical mastalgia may occur at any stage of the menstrual cycle
                                                                         and usually does not vary during the cycle. It may be continuous
                                                                         or intermittent and is often unilateral or localised to one part of the
                                                                         breast. The median age of onset is 41 years of age. It is more likely
Question 7                                                               to be associated with breast pathology (such as a cyst) than cyclical
                                                                         mastalgia.
What are the management options for Kate?

                                                                         Answer 3
                                                                         The differential diagnoses for this condition are:
                                                                         • mastalgia – a chronic condition, lasting more than 5 years in
                                                                           most cases. Spontaneous resolution is more common with
                                                                           noncyclical mastalgia (which occurs in 40% of cases) than with
                                                                           cyclical mastalgia (14% of cases)27
                                                                         • non breast pain – pain felt in the breast but originating from other
                                                                           chest structures, such as the lungs, heart or abdomen (typically
                                                                           gall bladder) and chest wall. Tietze syndrome (chostochondritis) is
                                                                           common, with point tenderness over the costochondral junction
                                                                         • localised benign breast lesion – cyst, fibrocystic change, localised
                                                                           nodular parenchyma, fibrocystic change
   CASE 4 ANSWERS                                                        • breast cancer – rarely presents with breast pain alone in the
                                                                           absence of other symptoms. Only about 5% of breast cancer
                                                                           cases present in this manner.26
Answer 1
The history in a woman with mastalgia should include asking about:25     Answer 4
• the part of the breast/s affected (localised or generalised,           While there is some evidence that cyclical mastalgia may be an
  unilateral or bilateral)                                               independent risk factor for breast cancer, further studies are needed
                                                                         to clarify the magnitude of risk.28 The risk of breast cancer may
• duration of the pain
                                                                         increase as the number of menstrual cycles associated with breast
• exacerbating and relieving factors (including therapies trialled for   pain rises. There is now also good evidence that dense breast tissue
  symptoms)                                                              is an independent risk factor for breast cancer and this type of tissue
• relationship to menstrual cycle and regularity of menstrual cycle      may be more likely to be associated with pain.
• presence of associated symptoms such as lump or nipple
  discharge                                                              Answer 5
• general breast and reproductive history, including past history        Any new breast symptom should be appropriately investigated using
  of breast surgery or biopsy, and hormonal factors such as              the triple test approach which consists of:6,13
  parity, breastfeeding and use of the oral contraceptive pill and       • thorough history and clinical breast examination
  hormone replacement therapy. In women aged 50 years or older,          • breast imaging: bilateral ultrasound and/or bilateral mammogram,
  attendance for breast cancer screening should be noted                   depending on the age of the women and the clinical findings:
• family history of breast and ovarian cancer.                              – women aged younger than 35 years – bilateral breast
                                                                               ultrasound, and bilateral mammogram if there are suspicious
                                                                               features on ultrasound

                                                                                                                                               13
Case 4                                                                                                               check Breast symptoms

   –w
     omen aged between 35 and 50 years of age – bilateral                – bromocriptine is one of the traditional treatments for mastalgia
    mammogram plus bilateral breast ultrasound                               and it is extremely effective, but its use is limited by side effects
   –w
     omen aged over 50 years – bilateral mammogram with the                 (nausea, dizziness and headaches) which occur in up to 20% of
    addition of bilateral ultrasound if the mammogram is normal or           patients, so it is rarely used
    unhelpful in the presence of a clinical abnormality                   – for severe cases of mastalgia that interfere with lifestyle, there
• nonsurgical (percutaneous) biopsy (fine needle biopsy or core              are strong hormonal medications which are usually prescribed
  needle biopsy) if there is an abnormality on clinical examination          by a breast specialist such as danazol 200 mg daily only in the
  or imaging.                                                                luteal phase (days 14–28);32 tamoxifen 10 mg daily for 3–6
                                                                            months.33
The triple test has an accuracy of over 99% in excluding
malignancy.28

Answer 6
The most likely diagnosis in Kate’s situation is noncyclical mastalgia.
The imaging findings suggest that no underlying pathology is present.

Answer 7
Management options include:5,29
• reassurance (after appropriate investigation) that symptoms are
  not caused by cancer. Often no further management is needed
  once malignancy has been excluded and patient anxiety is
  reduced
• simple analgesia (eg. paracetamol)
• topical anti-inflammatory medication (eg. diclofenac gel)
• a well fitting bra can significantly reduce breast pain especially
  during exercise. Women should be encouraged to have an expert
  bra fitting. There is no evidence that underwire bras cause
  damage to breast tissue. Sports bras often provide good comfort
  and support
• Other treatments:
   – e vening primrose oil is helpful for many women.30 Although
     it has not consistently been shown to be more effective than
     placebo in randomised trials, the placebo effect in these trials
     was particularly strong.29 A dose of 1000 mg 2–3 times daily is
      recommended if a trial of treatment is planned
   – reducing caffeine intake and using supplements such as vitamin
      B1, vitamin B6 and vitamin E have no strong evidence to
      improve symptoms, but some women may find it beneficial
   – relaxation therapy, acupuncture and applied kinesiology have
     been tried but their role remains unclear
• prescription medications31 – these are rarely indicated for
  mastalgia. When pain is significantly interfering with lifestyle
  (including sleep, exercise and sexual intimacy) consideration
  can be given to using medication. Some of the prescription
  medications have significant side effects and their use needs to
  be monitored in conjunction with a specialist. Possible options are:
   – o ral contraceptive pill (with lowest possible oestrogen dose),
     which is effective for some women

14
check Breast symptoms                                                                                                       Case 5

                                                                     Further information
  Case 5                                                             You arrange for Barbara to undergo assessment with the triple
  Does Barbara have breast cancer?                                   test. Barbara’s mammogram demonstrates a 10 mm spiculated
                                                                     lesion with microcalcification, her ultrasound demonstrates a
  Barbara, 48 years of age, comes to see you about a lump
                                                                     12 mm irregular solid mass and there is no evidence of axillary
  in her left breast. She noticed it 1 week ago while in the
                                                                     lymph node involvement on her mammogram and ultrasound.
  shower, performing her regular breast self examination.
  She has no associated symptoms such as pain, skin                  You refer Barbara to a breast surgeon who arranges a
  changes or nipple discharge and she is otherwise                   core biopsy which reveals invasive ductal carcinoma. She
  well, with no significant medical history. She eats well,          discusses this with Barbara and then performs wide local
  exercises regularly, drinks no alcohol, and has a body             excision (lumpectomy) and sentinel lymph node biopsy.
  mass index of 24 kg/m2.                                            Barbara’s operative histopathology report shows a 12 mm
                                                                     unifocal invasive ductal carcinoma with clear margins and
  Barbara has two daughters and a son, all aged in their
                                                                     micrometastases in two of four axillary sentinel lymph nodes.
  20s, who were all breastfed for 6 months. Barbara’s
                                                                     The tumour is oestrogen receptor (ER), progesterone receptor
  menarche was at 13 years of age and she now uses
                                                                     (PR) and human epidermal growth factor receptor 2 (HER2)
  the levonorgestrel releasing intrauterine device for
                                                                     positive.
  contraception and to control heavy periods.
  Barbara had an episode of mastitis while breastfeeding but         Question 2
  has otherwise never had any breast problems and she has
  never had any breast investigations. Barbara’s maternal            What is a sentinel lymph node biopsy?
  grandmother had a mastectomy in her 70s.
  On examination, the breasts appear symmetrical with no
  signs of inflammation, nipple inversion or skin tethering.
  The lump is palpable in the left breast in the 11 o’clock
  position, 5 cm from the nipple and Barbara mentions that it
  is tender. The lump is 1 cm in diameter, hard and irregular.
  There is no lymphadenopathy in the supraclavicular and
  axillary fossae and no abnormality on examination of the
  contralateral breast.

Question 1
What are the risk factors for breast cancer? Does Barbara have any
risk factors for breast cancer?                                      Question 3
                                                                     What do ER, PR and HER2 receptor status mean and what does their
                                                                     presence imply for prognosis?

                                                                                                                                  15
Case 5                                                                                                        check Breast symptoms

Question 4
What are the common sites for breast cancer metastasis? Does          CASE 5 ANSWERS
Barbara need scans to look for metastatic disease?

                                                                   Answer 1
                                                                   The risk factors for breast cancer are:
                                                                   • female gender
                                                                   • increasing age
                                                                   • nulliparity
                                                                   • lack of breastfeeding
                                                                   • increasing body mass index
                                                                   • personal history of proliferative benign breast disease
                                                                   • dense breasts on mammography
Question 5
                                                                   • greater oestrogen exposure (early menarche, late menopause, use
What further treatment would you recommended for Barbara?            of hormone replacement therapy)
                                                                   • smoking
                                                                   • alcohol intake
                                                                   • family history of breast and/or ovarian cancer
                                                                     (BRCA mutations).34,35
                                                                   Barbara is female and over 40 but has no other risk factors. Use of
                                                                   the levonorgestrel releasing intrauterine device does not affect her
                                                                   risk, and the family history she reports does not increase her personal
                                                                   risk of breast cancer. See Case 6, particularly Answer 4 where details
                                                                   for risk associated with family history are discussed.36

Question 6                                                         Answer 2
Barbara is concerned about her daughters’ risk of breast cancer.   Sentinel lymph node biopsy is a technique for staging the axilla
What do you advise her?                                            in women with early breast cancer. It involves identification of the
                                                                   lymphatic drainage of the lesion (usually with a combination of
                                                                   lymphoscintigraphy and blue dye injection) and surgical removal of
                                                                   only these nodes, leaving the remainder of the axilla intact. Sentinel
                                                                   lymph node biopsy has been shown to accurately identify the
                                                                   presence or absence of axillary lymph node involvement with a lower
                                                                   rate of lymphoedema, shoulder stiffness and other complications than
                                                                   full axillary lymph node dissection.37–40
                                                                   When malignant cells are found in the sentinel node or nodes, the
                                                                   standard management is to remove the remaining axillary nodes (full
                                                                   axillary lymph node dissection). There is some evidence to show that
                                                                   in highly selected cases it may be possible to omit full axillary node
                                                                   dissection.41
                                                                   Sentinel lymph node biopsy has only been proven to be safe in
                                                                   women with unifocal tumours less than 3 cm in diameter. Larger
                                                                   and/or multifocal/multicentric tumours are increasingly also being
                                                                   treated with this approach but this should be done with caution.42

                                                                   Answer 3
                                                                   The presence of oestrogen receptors (ER positive tumours) and
                                                                   progesterone receptors (PR positive tumours) means that the tumour
                                                                   relies on these hormones for growth. Cancers that are ER positive
                                                                   generally have a better prognosis than those that are ER negative.

16
check Breast symptoms                                                                                                                Case 5

They can be treated with adjuvant hormone blocking drugs (tamoxifen     Based on the available information, genetic testing would not be
or aromatase inhibitors) which further improves the prognosis. The      recommended in this family as the risk of there being a gene
majority of breast cancers (around 75%) are ER positive.43              mutation is very low. This may change if more relatives are diagnosed
Human epidermal growth factor receptor 2 is a receptor for growth       with breast cancer, or if Barbara develops bilateral breast cancer, if
factors on the surface of the cells – HER2 positive tumours are less    there is Ashkenazi Jewish ancestry, or if there is ovarian cancer in the
common, accounting for around 15% of early breast cancers.44,45         family.36
The presence of HER2 implies a worse prognosis, however, ‘targeted
therapies’ against these receptors are now available and have
revolutionised the management of this subgroup of cancers.44,45
The first targeted agent was trastuzumab; now a range of other
drugs to block HER1, HER2 and/or HER3 receptors are becoming
available.46–48

Answer 4
The common sites of metastasis from breast cancer are bone, liver,
lung and brain. Routine staging scans with computed tomography
(CT), bone scan and/or positron emission tomography (PET) are not
recommended in cases of early breast cancer.49 The incidence of
occult metastatic disease that will be detected on these scans in
women with stage I or II breast cancer and fewer than four positive
lymph nodes is less than 1%. In women with more advanced stages
of disease or with more than four axillary lymph nodes involved, the
incidence is higher and in this group staging should be considered.50

Answer 5
Barbara is likely to require:
• further surgery to the axilla (full axillary node dissection).
  Radiotherapy (rather than surgery) to the axilla may also be an
  option
• chemotherapy and trastuzumab as her tumour is HER2 positive
  and she is lymph node positive
• radiotherapy to the breast to reduce the risk of local recurrence
  following breast conservation surgery
• adjuvant endocrine therapy for at least 5 years (as her tumour
  is ER positive). This is likely to consist of tamoxifen as she
  was premenopausal at diagnosis; this may be changed to
  an aromatase inhibitor if she is postmenopausal following
  chemotherapy
• staging scans such as CT scans of the chest, abdomen and pelvis
  or a bone scan or PET are unlikely to be indicated if no further
  positive nodes are found as her risk of metastatic disease would
  be extremely low.49 If Barbara has more extensive disease found
  in the axilla, this clinical decision would be reviewed.

Answer 6
Barbara’s daughters are in the ‘moderate (intermediate) risk’
group for breast cancer as their mother was diagnosed with breast
cancer before the age of 50. Their risk of breast cancer up to
age 75 is between 1 in 8 and 1 in 4. This risk is 1.5–3 times the
population average. They could be advised to have annual screening
mammography from the age of 40.36

                                                                                                                                            17
Case 6                                                                                                              check Breast symptoms

  Case 6
  Jacinta is concerned she’s at risk
  Jacinta is 31 years of age and has come to you for a
  breast check and to discuss her family history. She is
  shocked and upset because her older sister has just been
  diagnosed with breast cancer at the age of 33. Jacinta is             Question 4
  healthy and has no particular health concerns or breast
                                                                        What are the three categories of breast cancer risk based on family
  symptoms. Her family history includes a paternal aunt
                                                                        history? In which category does Jacinta’s family history place her?
  who underwent treatment for breast cancer at the age of
                                                                        Would her risk be higher if she had breast cancer on her maternal
  48, and had both breasts removed, as well as a paternal
                                                                        side of the family rather than her paternal side?
  grandmother who had both breasts removed for bilateral
  cancer, with her first breast cancer diagnosis at the age
  of 45. Jacinta is of Irish descent.

Question 1
What proportion of breast cancer is due to an inherited risk?

Question 2
In which genes are there inherited mutations that are associated with
a high risk of developing breast cancer? Are there any other cancers
associated with these gene mutations?
                                                                        Question 5
                                                                        What is a familial cancer clinic? Should Jacinta be referred to a
                                                                        familial cancer clinic?

Question 3
What information in the family history is used to estimate breast
cancer risk?

18
check Breast symptoms                                                                                                                  Case 6

Question 6
If Jacinta’s sister is found to carry a BRCA1 gene mutation, what are      CASE 6 ANSWERS
the chances that Jacinta carries the same mutation?

                                                                        Answer 1
                                                                        Up to 5% of breast cancers develop because of an inherited gene
                                                                        mutation. The remaining 95% are not related to an inherited gene
                                                                        mutation. Less than 1% of the population carries a mutation that puts
                                                                        them at high risk of breast cancer.36 As breast cancer is common,
                                                                        many women have an affected relative, so a family history does not
                                                                        always imply high risk.

                                                                        Answer 2
Question 7
                                                                        The genes in which mutations are associated with a high risk of
If Jacinta carries a BRCA1 gene mutation, what are her options for      breast cancer are outlined below.36
managing her risk? How effective are these strategies?
                                                                        BRCA1
                                                                        • Risk of breast cancer of 40–80% to the age of 75
                                                                        • Associated risk of ovarian/fallopian tube cancer 10–60% to the
                                                                          age of 75
                                                                        • A ssociated possible small risk of prostate cancer in males who
                                                                           carry the mutation.
                                                                        BRCA2
                                                                        • Risk of breast cancer of 40–80% to the age of 75
                                                                        • Associated risk of ovarian/fallopian tube cancer 10–40% to the
                                                                          age of 75
                                                                        • A ssociated risk of prostate cancer, male breast cancer and
                                                                           pancreatic cancer.
                                                                        Tp53 (Li-Fraumeni syndrome)
                                                                        • Risk of breast cancer >50%
                                                                        • Associated risk of bone or soft tissue malignancy
Question 8
                                                                        • Associated brain, lung, adrenal gland, haematological and other
What are the indications for breast MRI in high risk women and in the     malignancy.
general population?
                                                                        Answer 3
                                                                        Features of the family history that may indicate a potentially high risk
                                                                        of breast cancer include:
                                                                        • family member with a confirmed BRCA1 or BRCA2 gene mutation
                                                                        • multiple family members affected by breast or ovarian/fallopian
                                                                          tube cancer. Enquire about the type of cancer (including
                                                                          histological details if available); ‘triple negative’ and ‘basal-like
                                                                          features’ – in breast cancer these may suggest BRCA1 mutation;
                                                                          epithelial ‘serous’ ovarian cancer or fallopian tube cancer – these
                                                                          may also may be associated with gene mutations
                                                                        • the number of relatives affected by cancer and side of family
                                                                          (maternal or paternal may equally affect risk)
                                                                        • relationship to patient (first or second degree relatives)
                                                                        • age at onset of cancer (higher risk under the age of 40)
                                                                        • other high risk features:

                                                                                                                                             19
Case 6                                                                                                                     check Breast symptoms

     – cases of bilateral breast cancer                                     Jacinta has:
     – cases of breast and ovarian/fallopian tube cancer in the same        • one first degree relative diagnosed with breast cancer under the
        woman                                                                  age of 40 (her sister)
     – male breast cancer                                                   • two second degree relatives diagnosed before the age of 50 (aunt
     – Ashkenazi Jewish ancestry                                              and grandmother) on the same side of the family (paternal)
• other types of cancer in the family (eg. prostate, bone, soft tissue).     • a potentially high risk feature (bilateral breast cancer in her
                                                                               grandmother).
Answer 4                                                                     This assesses her as being Category 3 – potentially high risk.
Category 1: Population risk36                                                Jacinta’s risk would be no more or less significant for a maternal
                                                                             versus a paternal family history.
• Risk of breast cancer up to age 75 is 1 in 11 to 1 in 8 (no more
  than 1.5 times the population average)                                     As well as written resources available online, the National Breast and
                                                                             Ovarian Cancer Centre has an individualised risk assessment tool
• More than 95% of women are in this group
                                                                             (see Resources).36,52
• No confirmed family history of breast cancer, or
• Family history of breast cancer in:                                        Answer 5
     – o ne first degree relative at age 50 or older                        A familial cancer clinic is a specialised clinic that provides
     – one second degree relative at any age                                information, support and guidance to people who have a personal
                                                                             or family history of cancer. As well as being able to map out the
     – two second degree relatives on the same side of the family
                                                                             pedigree in detail, cancer geneticists can often help find out
        diagnosed at age 50 or older
                                                                             pathology information from hospitals to confirm the history and
     – two first or second degree relatives at age 50 or older on           communicate with other clinics in Australia and internationally if
       different sides of the family.                                        relatives have been assessed in different places.
Category 2: Moderately increased risk36                                      If appropriate, genetic testing may be offered. This usually involves
• Risk of breast cancer up to age 75 is 1 in 8 to 1 in 4 (1.5–3              first performing a blood test on a relative who has been affected
  times the population average)                                              by cancer. If a mutation is found on searching for the BRCA 1 and
• Less than 4% of women are in this group                                    BRCA2 genes in the relative, then other unaffected relatives can
• A family history of breast cancer occurring in:                            easily be tested to see if they carry the same mutation. However, it
                                                                             is quite common for genetic testing results to be inconclusive, which
     – one first degree relative before the age of 50
                                                                             means that even when there is a strong suspicion of an inherited
     – two first degree relatives on the same side of the family            mutation in a person affected by cancer, it is not identified on testing.
     – two second degree relatives on the same side of the family with      Jacinta should be referred to a familial cancer clinic. Due to her
        at least one having been diagnosed under the age of 50               sister’s young age and family history it is likely that she will be
     – a bsence of potentially high risk features (see Category 3 below).   referred to a clinic during her treatment and Jacinta could wait for
Category 3: Potentially high risk36,51                                       the outcome of her assessment.

• Risk of breast cancer up to age 75 is 1 in 4 to 1 in 2 (may be             The general indication for referral is a person in Category 3 who
  more than 3 times the population average)                                  would like more information about their individual risk (or the risk for
                                                                             others in her family). Other indications include a diagnosis of breast
• Less than 1% of women are in this group
                                                                             cancer at a very young age (under age 30) even in the absence of a
• Family history of breast cancer occurring in two first or                  family history, a diagnosis of breast cancer in anyone of Ashkenazi
  second-degree relatives on the same side of the family, plus               Jewish heritage and a history of multiple non breast/ovarian cancers
  one or more of the following features:                                     (as well as breast/ovarian cancers) in the family. As well as providing
     – additional relatives with breast or ovarian cancer                   patients with information about their personal risk and considering
     – a relative with both breast and ovarian cancer                       the option of genetic testing, a familial cancer clinic can give advice
                                                                             on screening and risk reducing strategies, including addressing the
     – breast cancer affecting both breasts
                                                                             increased risk of ovarian cancer if identified. Some familial cancer
     – breast cancer diagnosed before the age of 40                         clinics also run ‘high risk’ clinics that provide multidisciplinary cancer
     – Ashkenazi Jewish ancestry                                            care with screening and risk management strategies.
     – breast cancer in a male relative                                     The GP can provide some counselling while the patient is awaiting
     – a relative who has tested positive for a high risk gene mutation     an appointment at a familial cancer clinic. The implications of genetic
        (eg. a mutation in BRCA1 or BRCA2).                                  screening on obtaining insurance, disclosure of results to other family
                                                                             members, and screening with imaging can be outlined.

20
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