Background Genome-wide association studies suggest that the combined effects of breast
cancer (BC)-associated single nucleotide polymorphisms (SNPs) can improve BC risk …

PURPOSE This study assessed the joint association of pathogenic variants (PVs) in breast
cancer (BC) predisposition genes and polygenic risk scores (PRS) with BC in the general …

To determine the changes in surveillance category by adding a polygenic risk score based
on 311 breast cancer (BC)-associated variants (PRS 311), questionnaire-based risk factors …

Highlights•Compared phenotypes of founder and non-founder CHEK2 mutation carriers.•No
significant phenotypic differences were observed between founders and non …

Introduction Both protein-truncating variants and some missense substitutions in CHEK2
confer increased risk of breast cancer. However, no large-scale study has used full open …

Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer
risk (odds ratio, OR∼ 2.5), qualifying carriers for enhanced breast cancer screening …

Purpose Although the role of CHEK2 germline pathogenic variants in cancer predisposition
is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited …

The CHEK2 1100delC protein-truncating mutation has a carrier frequency of∼ 0.7% in
Northern and Western European populations and confers an∼ 2-fold increased risk of …

AIM: The CHEK2∗ 1100delC mutation confers a relative risk of two for breast cancer (BC) in
the general population. This study aims to explore the excess cancer risk due to the …

Introduction The cell-cycle checkpoint kinase (CHEK) 2 protein truncating mutation
1100delC has been associated with increased risk for breast or prostate cancer. Multiple …