BRCA1 and BRCA2 Mutations and Breast Cancer.ppt

Cumulative Incidence Proportion of women that will develop breast cancer by a given age Clinical Sensitivity Proportion of women with breast cancer by a given age carrying a BRCA1/2 mutation Penetrance Proportion of women with a BRCA1/2 mutation that develops breast cancer by a given age Carrier Rate The rate of BRCA1/2 mutation carriers in the general population Meta-analysis for each parameter to calculate a point estimate but Heterogeneity Wide ranges, broad confidence intervals Not internally consistent Integrated Approach Integrated Approach: Results By Age 70 (assuming a cumulative incidence of 9.67%) Applying the integrated approach to a hypothetical cohort of 1,000,000 women Con’t Con’t Con’t Con’t Con’t Con’t A Comparison Among Commonly Used Information Sources Calculated parameters using our integrated approach What’s next? Expand the approach to incorporate family history Epidemiologic parameters needed when family history is used as a screening test What’s next? Expanded approaches Family history Ovarian cancer Breast and ovarian cancer Race/ethnicity (Ashkenazi Jewish) Mutation location (BRCA1, BRCA2, OCCR) Other conditions with a genetic component AcknowledgmentSupport for this study was provided by a cooperative agreement (UR/CCU319352) with the Centers for Disease Control and Prevention, Office of Genomics and Disease Prevention. * BRCA1 and BRCA2 Mutations and Breast Cancer: An Integrated Approach Using Four Epidemiologic Parameters Monica McClain, PhD.Assistant Director, Biometry and Epidemiology Foundation for Blood Research Scarborough, Maine? Email: mcclain@ Epidemiologic Parameters 9.67% 1.19% By Age 70 By Age 45 DevCan: Probability of developing or dying of cancer software. Version 5.1: Statistical Research and Application Branch, National Cancer Institute; 2003. Newman et al. JAMA. 1998. Anton-Culver et al. Eur J Cancer. 2000. Claus et al. Cancer. 1996. Easton et al. Am J Hum Genet. 1993.