A common missense variant in BRCA2 predisposes to early onset breast cancer.

ABSTRACT:

Introduction

Mutations in the BRCA2 gene are one of the two major causes of hereditary breast cancer. Protein-truncating mutations of BRCA2 are usually deleterious and increase the risk of breast cancer up to 80% over a lifetime. A few missense mutations in BRCA2 are believed to have a similarly high penetrance, apart from more common neutral polymorphisms. It is often difficult to classify a particular sequence variant as a mutation or a polymorphism. For a deleterious variant, one would expect a greater allele frequency in breast cancer cases than in ethnic-matched controls. In contrast, neutral polymorphic variants should be equally frequent in the two groups.

Methods

We genotyped 3,241 cases of breast cancer diagnosed at under 51 years of age, unselected for family histo

SUBMITTER: Gorski B 

PROVIDER: S-EPMC1410744 | biostudies-literature | 2005

REPOSITORIES: biostudies-literature