Characterization of BRCA1 and BRCA2 mutations in a large United States sample.

ABSTRACT:

Purpose

An accurate evaluation of the penetrance of BRCA1 and BRCA2 mutations is essential to the identification and clinical management of families at high risk of breast and ovarian cancer. Existing studies have focused on Ashkenazi Jews (AJ) or on families from outside the United States. In this article, we consider the US population using the largest US-based cohort to date of both AJ and non-AJ families.

Methods

We collected 676 AJ families and 1,272 families of other ethnicities through the Cancer Genetics Network. Two hundred eighty-two AJ families were population based, whereas the remainder was collected through counseling clinics. We used a retrospective likelihood approach to correct for bias induced by oversampling of participants with a positive family history.

SUBMITTER: Chen S 

PROVIDER: S-EPMC2323978 | biostudies-literature | 2006 Feb

REPOSITORIES: biostudies-literature