BRCA2 as a Low-Penetrance Cancer Gene

Meta-analysis of BRCA1 and BRCA2 penetrance.

PURPOSE Genetic counseling is now routinely offered to individuals at high risk of carrying a BRCA1 or BRCA2 mutation. Risk prediction provided by the counselor requires reliable estimates of the mutation penetrance. Such penetrance has been investigated by studies worldwide. The reported estimates vary. To facilitate clinical management and counseling of the at-risk population, we address this...

epigenetic brca2 gene in epithelial ovarian cancer

background ovarian cancer is the most common fatal gynecologic malignancy in women. the brca2 gene has a role in regulation of cell cycle during proliferation, differentiation and dna repair. changes in the methylation of brca2 may be an effective mechanism for ovarian cancer. objectives the aim of the present study was to evaluate the association between ovarian cancer and methylation status o...

BRCA2: a grown-up cancer susceptibility gene.

Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on...

Low-penetrance susceptibility variants in familial colorectal cancer.

BACKGROUND Genomewide association studies have identified 10 low-penetrance loci that confer modestly increased risk for colorectal cancer (CRC). Although they underlie a significant proportion of CRC in the general population, their impact on the familial risk for CRC has yet to be formally enumerated. The aim of this study was to examine the combined contribution of the 10 variants, rs6983267...