The breast cancer predisposition gene, BRCA2, has a large number of genetic variants of
unknown effect. The variant rs11571833, an A> T transversion in the final exon of the gene …

It is well established that rare mutations in BRCA2 predispose to familial breast cancer, but
whether common variants at this locus contribute more modest risk to sporadic breast cancer …

Breast cancer risks conferred by many germline missense variants in the BRCA1 and
BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been …

A number of BRCA1 and BRCA2 polymorphisms have been extensively studied in order to
test their association with breast cancer risk. Subsequently, discordant results were reported …

Introduction Truncation mutations in the BRCA1 gene cause a substantial increase in risk of
breast cancer. However, these mutations are rare in the general population and account for …

Rare, highly penetrant germ line mutations in BRCA1 strongly predispose women to a
familial form of breast and ovarian cancer. Whether common variants (either coding or …

Common genetic variants contribute to the observed variation in breast cancer risk for
BRCA2 mutation carriers; those known to date have all been found through population …

Background: The BRCA1 gene is an important breast-cancer susceptibility gene. Promoter
polymorphisms can alter the binding affinity of transcription factors, changing transcriptional …

Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this
risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 …

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 …