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Clinical Utility of BRCA Testing

Clinical Utility of BRCA Testing. Mark Robson, MD September 7, 2012. Pharoah PD et al. N Engl J Med 2008;358:2796-2803. Risk Factors. Not modifiable Age Gender Age menarche Age menopause Histologic RF (eg ADH) Mammo density. Potentially modifiable Age FFTP Breast feeding Obesity

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Clinical Utility of BRCA Testing

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  1. Clinical Utility of BRCA Testing Mark Robson, MD September 7, 2012

  2. Pharoah PD et al. N Engl J Med 2008;358:2796-2803.

  3. Risk Factors • Not modifiable • Age • Gender • Age menarche • Age menopause • Histologic RF (eg ADH) • Mammo density • Potentially modifiable • Age FFTP • Breast feeding • Obesity • Alcohol • HRT • Radiation exposure

  4. Importance of family history Pharoah et al, Int J Cancer 1997; 71: 800

  5. Mechanisms of familial risk • Chance • Shared socio-cultural risk factors • Shared environmental exposures

  6. * * * 92 Dx 45 d. 89 86 * * Dx 59 d. 62 Dx 72 73 68 71 * 36 Dx 36

  7. Causes of Hereditary Breast Cancer • BRCA1 & BRCA2 • PTEN • TP53 • CDH1 • LKB1/STK11

  8. BRCA1 and BRCA2 mutations in BCKurian et al, CEBP 2009;18:1084-91 Category A Category B Category A: BC <35, B/L BC with first before 50, prior OC, 1+ FDR with BC or OC

  9. BRCA1 and BRCA2 mutations in OC Zhang et al, Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecol Oncol 2011;121:353

  10. NCCN Criteria for BRCA testing Personal History of BC No Personal History of BC Epithelial ovarian cancer Male BC Pancreas with 2+ relatives with breast, ovary, or pancreas cancer Unaffected with FDR or SDR meeting criteria • Dx ≤ 45 • Dx ≤ 50 with: • 1 or more relative with BC ≤ 50 or • 1 or more relative with OC • Bilateral with first ≤ 50 • TNBC ≤ 60 • Any age with 2+ relatives with breast or ovary any age • Any age with 2+ relatives with pancreas • Any age with relative with male BC • Any age if Ashkenazi

  11. Impact on management of affected • Choice of local therapy • Choice of systemic therapy • Surgical prevention of second primaries

  12. Risks to unaffected carriersChen & Parmigiani JCO 2007;25:1329 Breast Ovary

  13. Management of breast cancer risk

  14. MRI surveillance in women at risk

  15. Diagnostic yield of surveillance strategies True positive diagnoses per 1000 screens Kuhl et al, J Clin Oncol 2010;28:1450

  16. Management of ovarian cancer risk

  17. Risk-Reducing Salpingo-Oophorectomy • Peritoneal cancers may occur • Unexpected cancers in ~4% • Also ↓breast cancer risk • Survival benefit

  18. Risk-Reducing Salpingo-Oophorectomy • Peritoneal cancers may occur • Unexpected cancers in ~4% • Also ↓breast cancer risk • Survival benefit

  19. Impact of RRSO

  20. Potential impact of intervention

  21. Potential impact of intervention

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