In this issue of the Journal, Delahaye-Sourdeix et al.(1) report a statistically significant
association (odds ratio [OR]= 2.53) between a rare (minor allele frequency [MAF]< 0.01) …

Deleterious BRCA2 genetic variants markedly increase risk of developing breast cancer. A
rare truncating BRCA2 genetic variant, rs11571833 (K3326X), has been associated with a …

ABSTRACT Background: The K3326X variant in BRCA2 (BRCA2* c. 9976A> T; p. Lys3326*;
rs11571833) has been found to be associated with small increased risks of breast cancer …

Individuals with germline mutations in the breast cancer susceptibility gene, BRCA2, have
an approximate 70% risk of developing breast cancer, a 30% risk of developing ovarian …

A rare BRCA2 genetic variant, known as rs11571833 (K3326X), is strongly associated with
squamous-cell cancers of the upper aerodigestive tract (UADT), a new study reports. BRCA2 …

Li et al 1 recently reported the association between risk of 22 cancers and BRCA1 and
BRCA2 pathogenic variants (PVs) in the Consortium of Investigators of Modifiers of the …

Germline mutations in the BRCA2 gene have been shown to confer increased risks of
developing multiple cancers. Most pathogenic BRCA2 mutations are associated with …

Background Most pathogenic mutations in the BRCA2 gene carry a high risk of hereditary
breast and ovarian cancer (HBOC). However, a stop-gain mutation, K3326*(rs11571833) …

Domchek and colleagues provide a case report of a 28-year-old woman with congenital
abnormalities, inherited ovarian cancer, and carboplatin hypersensitivity. Interestingly, the …

Context.—Previous studies of BRCA1 mutation prevalence have been based on high-risk
groups, yielding estimates that do not reflect the experience of the general population of US …