Seminars

General Departmental Seminar Series

Carrier Probabilities for Breast Cancer Susceptibility Genes

Giovanni Parmigiani, Departments of Oncology and Biostatistics, Johns Hopkins University

Friday, April 6, 2001, 12:00-1:00 pm

3285 Medical Sciences Center
1300 University Avenue

ABSTRACT

Recent advances in the understanding of genetic susceptibility to breast cancer, notably identification of the BRCA1 and BRCA2 susceptibility genes, raise important questions for clinicians, patients and policy makers. In this lecture, I will describe examples of how statistical modeling can contribute to answering some of these questions.

The lecture will revolve around an algorithm and software package named BRCAPRO, which estimates the probability of carrying a genetic susceptibility mutation, for a given family pedigree with history of breast and related cancers. The model combines biological evidence about the genes' prevalence, penetrance and inheritance mechanism, together with Bayesian modeling and prediction techniques. I will briefly outline the basic elements of BRCAPRO and then describe three areas of clinical application and current research: (i) directly using the model in genetic counseling; assessing and communicating uncertainty about whether an individual is a carrier and about the model's own estimated probability; (ii) validating the model using pedigree data on tested individuals, accounting for errors in genetic testing; (iii) using the model for exploring differences in prognosis between carriers and noncarriers of the genes, by incorporating detailed pedigree information in survival analysis.

Papers related to this lecture and other information about BRCAPRO are available from the site.

http://biosun01.biostat.jhsph.edu/~gparmigi/brcapro.html

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