Some Statistical Problems in Human Genetics Genetic Epidemiology Talk Outline BRCA1 BRCA1 mutations are very rare Diagram Diagram Problems Problem 1 Select families apt to segregate mutations Design 1: Multiple-Case Families Breast Cancer in BRCA1 Mutation Carriers Design 2: Kin-cohort Breast Cancer in BRCA1 Mutation Carriers Design 3 Breast Cancer in BRCA1 Mutation Carriers Problem 2 Nongenetic Attributes Design Analytic Challenges; Solution Suppose diseased & nondiseased . . . Assumptions Problem 3 Design 1 Design 2 Design 3 Horvitz-Thompson Pseudo-Likelihood Design 3 Horvitz-Thompson Pseudo-Likelihood WNH Patients Diagnosed with Invasive Cancer Estimated BRCA1 Mutation Carrier Prevalence Conclusions Collaborators