Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Cancer is a disease of the genome caused by oncogene activation and tumor suppressor
gene inhibition. Deep sequencing studies including large consortia such as TCGA and …

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been
reported in single populations, with the majority of reports focused on White in Europe and …

Background Reliable estimates of cancer risk are critical for guiding management of BRCA1
and BRCA2 mutation carriers. The aims of this study were to derive penetrance estimates for …

Context Approximately 10% of women with invasive epithelial ovarian cancer (EOC) carry
deleterious germline mutations in BRCA1 or BRCA2. A recent article suggested that BRCA2 …

Genome-wide association studies have identified breast cancer risk variants in over 150
genomic regions, but the mechanisms underlying risk remain largely unknown. These …

Importance Limited information about the relationship between specific mutations
inBRCA1orBRCA2 (BRCA1/2) and cancer risk exists. Objective To identify mutation-specific …

Purpose We assessed the associations between population-based polygenic risk scores
(PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and …

Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer
(EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 …

Background There is substantial variability in cancer risk in women who have inherited a
BRCA1 or BRCA2 (BRCA1/2) mutation. Numerous factors have been hypothesized to …