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Activity Number: 525
Type: Invited
Date/Time: Thursday, August 10, 2006 : 10:30 AM to 12:20 PM
Sponsor: Section on Statistics in Epidemiology
Abstract - #305239
Title: Risk Estimation in Persons at Genetic Risk of Cancer
Author(s): Sining Chen*+ and Edwin S. Iversen, Jr. and Giovanni Parmigiani
Companies: Johns Hopkins Bloomberg School of Public Health and Duke University and Johns Hopkins University
Address: , , MD, 21205,
Keywords: gene characterization ; risk estimation ; cancer epidemiology ; BRCA ; Bayesian hierarchical model
Abstract:

Once a causal gene is identified, effective characterization of that gene becomes immediately important. We will present two approaches for characterizing rare genetic variants using family data ascertained based on family history. The retrospective likelihood approach uses the likelihood of the genetic test result conditioning on the family history. It takes full advantage of the Mendelian transmission of mutated alleles and provides unbiased estimates. The ascertainment-conditional likelihood approach conditions on the event of ascertainment and models the probability of ascertainment through a family history summary variable. This approach provides improved efficiency over the retrospective likelihood and remains unbiased under appropriate modeling of the ascertainment event. We will present a metaanalysis of BRCA penetrance studies using a Bayesian hierarchical approach.


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