Hereditary Gynecologic Cancer 15 Years of Progress

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1 Hereditary Gynecologic Cancer 15 Years of Progress Bethan Powell, M. D. Kaiser Permanente UCSF Gynecologic Cancer Risk Program Hereditary Gynecologic Cancer Syndromes BRCA 1 and 2: ovarian Lynch: ovarian/endometrial Cowdens: endometrial Peutz Jaeger: granulosa cell, STCTAT, cervix, adenoma malignum Li-Fraumeni:?ovarian ACOG PRACTICE BULLETIN Hereditary Breast and Ovarian Cancer Syndrome Karen Lu, Noah Kauff, Bethan Powell Lee-may Chen, Ilana Cass, Johnathan Lancaster. Obstet Gynecol 113, 2009, Genetic Information Nondiscrimination Act (GINA) H.R. 493: This act prohibits discrimination based on genetic information with respect to health insurance and employment (Signed into Law in 2008) Most health insurers reimburse for BRCA genetic testing when appropriate 1

2 American Women with Breast Cancer US Ashkenazi Jews: Hispanic: African American: African American, with breast age <35: Asian: John, E JAMA: 2007, % BRCA1 3.5% BRCA1 1.3% BRCA1 16.7% BRCA1 0.5% BRCA1 Who Should be Considered for Hereditary Cancer Risk Assessment: HBOC Syndrome? Young age Multigenerational cancers Multiple cancers Male breast cancer Ashkenazi Jewish Don t be fooled Families with few females Families with females with early hysterectomy Adoption Paternal as well as maternal history Need to test an affected relative 2

3 Pathologic Features of BRCA1 cancer Triple negative basal like breast cancer: < age 50, with any family history: 29% BRCA1 < age 40: 23% BRCA1 Tubal cancer: 28% BRCA Nonmucinous ovarian cancer: 16-21% BRCA Transitional cell ovarian cancer: 32% BRCA Chen, LM unpub Cass, I GynOnc, in press Lakhani, S Cl Can Res: 2005 National Comprehensive Cancer Network Recommendations for Ovarian Cancer Screening Routine screening in the general population is not recommended For high-risk women (with either a family history or a BRCA mutation) screening is recommended with: TVS and CA-125 measurements every 6 mo Starting at the age of 35 years or 5-10 years before the earliest age at Ov Ca diagnosis in the pedigree Recommends strong consideration of RRSO at the completion of childbearing in women with a BRCA mutation NEJM 2009;361:170 3

4 UKCTOCS: Results from Prevalence Screen of >100,000 postmenapausal women MMS USS Total surgeries Primary invasive OC/FT Screen women/ cancers in 1 yr 4 8 # surgeries per cancer detected % early Stage I/II cancers Performance Sensitivity 89.5% 75.9% Specificity 99.8% 98.2% PPV 35.1% 2.8% Level I: Menon U, et al. Lancet Oncol ;10 Pattern of Serial CA125s in 6 Women from the UK Study 3 women with occult Ov Ca and 3 women without Ov Ca CA125-II Skates SJ, et al. J Clin Oncol 2003;21:206s Ovarian Cancer Screening in BRCA mutation carriers Time to stop ovarian cancer screening in BRCA 1/2 mutation carriers Van der velde, Int J Cancer, 2009 Surveillance of women at high risk for hereditary ovarian cancer is inefficient Oei, Brit J Cancer, 2006 Screening for familial ovarian cancer: poor survival of BRCA 1/2 related cancers Evans, J Med Genet 2008 No Efficacy of annual gynaecological screening. Hermsen Br J Cancer: 2007:1335 4

5 OCP in BRCA Mutation Carriers Ovarian Cancer Risk Most studies show reduction of ovarian cancers in OCP users, especially for over 3-6 years. HR 0.5 (95% CI: ) Greater impact with duration of use: Risk reduction 4.4% per year Level II-2,II-3 Narod S NEJM 1999 Whittemore B J Cancer 2004 OCP in BRCA Mutation Carriers Breast Cancer Risk BRCA1: modest increased risk OR 1.20 (95% CI: ) overall, but higher risk associated with: Duration of use>5years OCP use <age 30 Breast Ca <age 40 Use before 1975 BRCA 2: No increase risk Level II-2 Narod S, JNCI 2003, 13: Summary of OCP use BRCA1: 1000 women take OCPs 120 more breast cancers 250 fewer ovarian cancers BRCA2: 1000 women take OCPs 150 fewer ovarian cancers Grenader T Breast: 2005, 264 Other potential chemoprevention agents Fenretinide reduced risk of ovarian cancer but not sustained Level II-1, De Palo, et al. JNCI 1995 Tamoxifen Prevention of contralateral breast cancer. Reduced the risk of primary breast cancer by 62% in BRCA2 Level II-2,Gronwald, J Int J Can: : King MC, JAMA : No evidence for: Selenium Vitamin D Di-Indole Methane (DIM) Indole 3- carbinol Aromatase Inhibitors 5

6 RRSO risk reduction 10 largest studies of outcomes of RRSO in BRCA1/2 carriers. 50% reduction in breast cancer in both BRCA1 and BRCA2 carriers. Reduction may be > in BRCA2. Seen in premenopausal women, greatest reduction for BRCA1 seen <age 40 80% reduction in Ovarian/FT cancer Rebbeck, JNCI:2009, 80 Prophylactic surgery impact: Domchek, JAMA 9/ mutation carriers from 22 international sites. Mastectomy: no breast cancers RRSO vs No RRSO ovarian cancer 1% 6% breast cancer BRCA 1 14% 20% BRCA 2 7% 23 6

7 Incidence of Occult Cancer at time of RRSO (Powell et al, UCSF) Tubal Carcinoma in situ (TIC) 111 RRSO procedures: using microsectioning protocol Incidence of occult cancer 10/111 = 9.1% 7 Fallopian tube only,1 Ovarian only 3 positive cytology Five fold increase in occult neoplasia > age 50 Post RRSO: 3 cancers, only one primary peritoneal for incidence of 0.7% Level II-3 7

8 8

9 Quality of Life after RRSO in BRCA Carriers Less depression and cancer anxiety Osteoporosis Musculoskeletal pain Palpitations Fatigue associated with cancer diagnosis Level II-2 Michelsen T Gyn Onc 2009:113, HRT after RRSO Sexual symptomatology is the single biggest predictor of dissatisfaction after RRSO Data from WHI may not apply to young women with hereditary cancer risk No long term follow up studies on endocrine markers, heart disease or osteoporosis Robson, Gyn Onc 2003 Madalinska, J Clin Onc 2005 HRT after RRSO in BRCA Mutation Carriers Women who had RRSO and used Short-term HRT < 6mth had significant breast cancer risk reduction HR 0.37 (95% ) PARP inhibition and tumor-selective lethality DNA damage (SSBs) DNA replication (accumulation of DNA DSBs) Normal cell with functional HR pathway PARP PARP inhibition HR-deficient tumor cell (e.g. BRCA 1/2 -/- ) Rebbeck T J Clin Oncol 2005 Level II-2 HR-mediated DNA repair Cell survival Tumor-selective cytotoxicity Cell death Impaired HRmediated DNA repair DSB, double-strand break; HR, homologous recombination SSB, single-strand break Farmer H et al. Nature 2005;434: Bryant HE et al. Nature 2005;434: McCabe N et al. Cancer Res 2006;66:

10 RECIST response rate, n (%)* Responders by RECIST and/or GCIG criteria, n (%) Efficacy Olaparib 400 mg bid (n=33) 11 (33) 20 (61) We have come so far, now where do we need to go? Increase identification of hereditary risk families Novel Screening markers and strategies for cancer prevention Duration of response Median (days) Range Quality of Life studies, fertility studies ITT analysis *Confirmed responses; there were an additional 3 unconfirmed responders in the 400 mg cohort (unconfirmed ORR 42%) Duration of response is underestimated as some patients are still responding Exciting new therapeutics. 10

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