Breast cancer risk associated with germline likely pathogenic/pathogenic variants (PV)
varies by gene, often by penetrance (high> 50% or moderate 20–50%), and specific locus …

We performed genome-wide association studies of breast cancer including 18,034 cases
and 22,104 controls of African ancestry. Genetic variants at 12 loci were associated with …

By combining data from 160,500 individuals with breast cancer and 226,196 controls of
Asian and European ancestry, we conducted genome-and transcriptome-wide association …

Germline variants occurring in BRCA1 and BRCA2 give rise to hereditary breast and ovarian
cancer (HBOC) syndrome, predisposing to breast, ovarian, fallopian tube, and peritoneal …

PALB2 loss‐of‐function variants confer high risk of developing breast cancer. Here we
present a systematic functional analysis of PALB2 splice‐site variants detected in …

Background Disrupted pre-mRNA splicing is a frequent deleterious mechanism in hereditary
cancer. We aimed to functionally analyze candidate spliceogenic variants of the breast …

Known genes in the breast cancer study literature could not be confirmed whether they are
vital to breast cancer formations due to lack of convincing accuracy, although they may be …

Background BRCA 1/2 alterations increase females' lifetime breast cancer risk to 40–90%,
ovarian cancer to 10–60%, and males' lifetime prostate cancer risk to~ 10–25 …

Relatively little is known about experiences of individuals with a pathogenic variant in a
moderately penetrant breast cancer gene, particularly those without a personal history of …

Abstract Changes in medical practice are needed to improve the diagnosis of monogenic
forms of selected common diseases. This article seeks to focus attention on the need for …