1. Princess Alexandra Hospitals NHS Trust Breast Unit Family History Clinic

2. Princess Alexandra Hospitals NHS Trust Breast Family History Clinic Background Overview of cancer genetics Referral Risk assessment The Family History appointment The Genetics appointment Risk-Reducing surgery Drawing a pedigree Examples and group work!!!

3. Background 1 in 9 women get breast cancer (Chalmers et al 2003) 5% BRCA 1/2 TP53 (Grande et al 2002) Familial Breast Cancer - 20% (Agnantis 2003) The general population is becoming increasingly aware of and concerned with their family history and it’s impact on their health. Women frequently over-estimate their risk (Martin % Degner 2006)

4. Lifetime Cancer Risks BRCA1Breast 80-85% Ovarian 44-60% Male Breast <1% Prostate6% BRCA2Breast 80-85% Ovarian15-20% Male Breast 8% Prostate15%

5. Princess Alexandra Hospitals NHS Trust Breast Family History Clinic Family history patients seen in symptomatic breast clinics NICE Guidelines 2006 Quest Charitable Trust £52K St. Margaret’s Family History clinic opened in 2006

6. Princess Alexandra Hospitals NHS Trust Breast Family History Clinic April 2009 – March 2010 Primarypop risk94 Secondarymod risk177 Tertiaryhigh risk324 Mammograms394 USS13 MRI19 Genetics165 New BRCA1/23 Breast cancers diagnosed3

7. Referral Patients referred by GP Surgeon/Oncologist Breast Care Nurse Genetics Counsellor

8. Referral Questionnaire NICE Guidelines Primary Secondary Tertiary

9. Referral Criteria Questionnaire NICE Guidelines Primary Secondary Tertiary

10. Primary Care – Population Risk Written information –Breast Awareness –NICE Guidelines –Pedigree Contact Details

11. Risk Assessment “Risk assessment is the first step in the process of providing information and support to patients and their families”(Silvell et al 2009)

12. NICE GUIDELINES All relatives on same side of family First Degree (FDR) – parent, full sibling, child Second Degree(SDR) – aunt/uncle, niece/nephew, half-sibling, grandparent/child Third Degree – great grandparent/child, great aunt/uncle, cousin

13. NICE GUIDELINES- Secondary 1 FDR Breast Cancer (BC) <40 2 FDR/SDR BC(at least one must be a FDR) 3 or more FDR/SDR BC 1 Male FDR BC 1 FDR bilateral BC 1 FDR/SDR Ovarian Cancer & 1 FDR/SDR BC (one must be a FDR) Any less than this and the patient falls into the Primary care Group

14. NICE GUIDELINES - Tertiary Breast Cancer 2 FDR/SDR* BC < 50 3 FDR/SDR* BC < 60 4 or more FDR/SDR* BC *one must be FDR

15. NICE GUIDELINES - Tertiary Ovarian Cancer 1 OC + 1 FDR BCor SDR BC <50or 1 OCor 2 FDR/SDR BC <60

16. NICE GUIDELINES - Tertiary Bilateral Breast Cancer 1 FDR BBC <50 1 FDR/SDR BBC + FDR/SDR BC <60

17. NICE GUIDELINES - Tertiary Male Breast Cancer 1 Male BC + 1 FDR/SDR BC <50or 2 FDR/SDR BC <60

18. Unusual Cancers Bilateral Breast Cancer Male Breast Cancer Ovarian Cancer Sarcoma <45 Glioma or childhood adrenal cortical carcinoma Complicated patterns of multiple cancers at young age

19. The Family History Appointment Secondary Care - moderate Risk Seen annually between ages 40-50 –Mammogram –Clinical Examination –Review

20. The Family History Appointment Tertiary Care - high risk Referral to Genetics Counsellor Seen annually aged 30-50 Then every 18 months –Mammogram if over 40 –MRI as indicated –Clinical Examination –Review

21. MRI Surveillance Subject to availability Annually to patients with a 10 year risk of –8% if aged 30-40 –20% if aged 40-49 BRCA1/BRCA2/TP53 carriers/at high risk of carrying

22. Risk-Reducing Surgery Bilateral Mastectomy reduces breast cancer risk by approx 90% (Hartmann et al 1999) Bilateral Salpingo-oopherectomy reduces ovarian cancer risk by approx 80% (Finch et al 2006) reduces breast cancer risk by approx 57% in BRCA 1 and 46% in BRCA 2 mutation carriers (Eisen et al 2005)

23. Drawing a Pedigree Taking a history –Ashkenazi Jewish Ancestry –Three generations –All cancer primaries –Age at diagnosis –Date of birth –Age at death –Any other serious illnesses/operations –? Bilateral –Male relatives –Unaffected relatives –Environmental exposure

24. Pedigree Symbols SB

25. Group Work!

26. Feedback!

27. References Agnantis,N et al (2003). Carcinogenesis of breast cancer – advances and applications Chalmers et al (2003) Reports of information and support needs of daughters and sisters of women with breast cancer. European Journal of Cancer Care, 12, 81-90 Eisen,A et al (2005) Breast cancer risk following bilateral salpingo- oophorectomy in BRCA1 and BRCA2 mutation carriers: An international case-control study. Journal of clinical Oncology, 23.30.7491-7496 Finch,A. et al (2006). Salpingo-oophorectomy and the risk of Ovarian, fallopian tube and peritoneal cancers in women with a BRCA1 or BRCA2 mutation. Journal of the American Medical Association.296.2.185-192 Grande et al (2002) Women’s views of consultations about familial risk of breast cancer in primary care. Patient education and counselling 48, 275- 282 Hartmann, LC et al (1999) Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. New England Journal of Medicine. 340.77-84 NICE (2006) Women with breast cancer in the family. NICE clinical guideline 41 DoH Sivell et al (2009) Cancer genetic risk assessment for individuals at risk of afamilial breast cancer( review) The cochrane collaboration. Issue 4