Article
A common missense variant in BRCA2 predisposes to early onset breast cancer.
Breast cancer research : BCR - 1 Jan 2005
Górski Bohdan, Narod Steven A, Lubinski Jan
Abstract excerpt
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...
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