Breast and colorectal cancer risks among over 6,000 CHEK2 pathogenic variant carriers: A comparison of missense versus truncating variants

CHEK2, a cell-cycle checkpoint regulator gene involved in DNA damage repair, is well established as a moderate-risk susceptibility gene in hereditary breast cancer.[1] Those who carry a heterozygous germline pathogenic variant (PV) in CHEK2 have a 1.5- to 3-fold increase in breast cancer risk up to age 80.[2 –5] Breast cancer risk is higher among women with biallelic PVs in CHEK2, with a nearly 9-fold increased risk of ductal invasive breast cancer reported.[6] Heterozygous PVs in CHEK2 have also been associated with an increased risk of colorectal cancer.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research