Familial Breast Cancer Referrals and Risk Management

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1 Familial Breast Cancer Referrals and Risk Management Presented by: Helen Mountain Genetic Counsellor

2 Genetic Services of WA Perth (KEMH and PMH) Joondalup Rockingham Bunbury Geraldton Kalgoorlie Albany Port Hedland

3 The GSWA Team Clinical Geneticists (6.5 FTE) Genetic Counsellors (12 FTE) Administrative Staff (4 FTE) Registries (Familial Cancer) Research Nurse (KConFab) Laboratories (Molecular, Cytogenetic) Three sections: Paediatric genetic counselling Adult and obstetric genetic service Familial Cancer Program

4 Referrals to the Familial Cancer Program Self referral GP referral Specialist referral Maximum information is the key to help us triage appropriately Most common referrals are for: women with a strong family history of breast cancer women who want BRCA testing to see if they have the BRCA gene

5 Who to refer to FCP Patients with a Family history of breast and/or ovarian cancer moderately increased risk potentially high risk How to assess risk? Online assessment tools Cancer Australia FRABOC EviQ

6 High risk features Breast cancer Under 40 Male Bilateral (or 2 primary cancers 1 st one under 50) Pathology features associated with BRCA genes 2 relatives (1 st or 2 nd degree) if 1 <40 or both <50 3 or more relatives (1 st or 2 nd degree) at any age Epithelial ovarian cancer Under 50 2 or more relatives with Ov Ca Multiples cancers Breast and ovarian cancer in the same family or individual Breast cancer over 2 or more generations Other Ashkenazi Jewish ancestry

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9 Cancer referral Triage Inadequate information Adequate information Population risk Moderate risk High risk AJ Predictive Letter: More info Validate Not eligible Eligible Mutation report Control sample Predictive info sheet Holding tray No appointment GC appointment DR appointment GC/DR Predictive appointment No appointment Letter (GC) Letter (GC) Letter (DR) Letter (GC) Letter (GC) Z file Data entry FCP compactus Results Inconclusive (by mail) Letter (GC) Positive (by phone) Letter (GC) DR/GC Results appointment Letter (DR) Data entry FCP compactus

10 Risk Assessment Common challenges Time to take an adequate family history Small family size or few at risk family members Addressing both sides of the family Metastasis or new primary? Other genetic conditions Obtaining medical records Key informants may be deceased Limited or no information may be available. Adoptions Divorce Geographical isolation Family rifts

11 Few at-risk relatives TAH age 38 Ov 49

12 Consider both sides of the family Br 55 Br 64 CRC 58 Endo 58 Br 40

13 When do we do BRCA testing Family meets our criteria for testing Manchester score >15 This equates to about a 20% chance of finding a gene change generally high risk families with at least one young onset breast or ovarian cancer People who we cannot test include: Person who has not had breast or ovarian cancer Unless known mutation in the family Family with no living affected relatives Family with Manchester score <15 Unless.

14 Exceptions to Manchester Rule All epithelial or endometrioid ovarian cancer Breast cancer <33y Triple positive breast cancer <40y Triple negative basal phenotype breast cancer diagnosed <40 Male breast cancer (BRCA2) 3 males with prostate cancer, at least one of which is diagnosed <60y All people of Ashkenazi Jewish ancestry (affected or not)

15 Referrals As much family history info as possible Ask the person to gather details including types of cancer and ages of diagnosis Referral examples please see Jane who is a 25 year old women with a strong family history of cancer thankyou for seeing Mrs B, age 60. She her mother and 2 sisters have all had breast cancer. Her sisters do not have the BRCA gene. Is there any genetic testing or advice you can give her?

16 Case study Kate, a 36 year old woman phones as she has a family history of breast and ovarian cancer She would like to discuss the possibility of genetic testing and have advice on surveillance and preventative surgery The process begins by taking detailed family history, either over the phone, face to face, or by completing family history questionnaire

17 Unknown cancer Breast cancer Melanoma Ovarian cancer Stomach cancer Lung cancer Lung cancer Melanoma Breast cancer Dx 38 yrs Breast cancer Ovarian cancer Dx 32 yrs Dx 47 yrs Breast cancer Dx 50 yrs ER+ PR+ her2 - Breast cancer Dx 36 yrs MVA Breast cancer Dx 37 yrs

18 Risk management High risk breast clinics Public at Royal Perth and SCGH Private at The Mount Options Self breast examination Clinical breast examination Breast imaging (mammography, ultrasound, MRI) Medicare rebates for MRI are available to women at high risk due to family history or genetic mutation. Definitions on The Department of Health and Ageing website ( Risk reducing surgery Risk reducing medication

19 Risk Management Guidelines

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