Association of CHEK2 Low-Risk Variants with Cancer Phenotypes

Association of CHEK2 Low-Risk Variants with Cancer Phenotypes Academic Background The CHEK2 gene (OMIM 604373) is one of the susceptibility genes for breast cancer. Monoallelic pathogenic variants (PVs) in CHEK2 are associated with an increased risk of breast, colorectal, kidney, and thyroid cancers. However, there is limited research on the phenot...

Tumor Analysis of BRCA Carriers Reveals Genomic Similarities Despite Temporal Separation

Tumor Analysis of BRCA1/2 Carriers: Genomic Similarities Evident Across Different Time Points Breast cancer (BC) is the most common malignant tumor among women globally, with its pathogenesis predominantly sporadic, while familial hereditary cases account for only 5% to 10%. Among various pathogenic molecules, mutations in the BRCA1/2 genes (Pathog...