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Germline variant profiling of CHEK2 sequencing variants in breast cancer patients.

Cancer genetics - 1 Nov 2024

McCarthy-Leo Claire, Baughan Scott, Dlugas Hunter, Abraham Prisca, Gibbons Janice, Baldwin Carolyn, Chung Sarah, Feldman Gerald L, Dyson Gregory, Finley Russell L, Tainsky Michael A

Abstract excerpt

The cell cycle checkpoint kinase 2 (CHEK2) is a tumor suppressor gene coding for a protein kinase with a role in the cell cycle and DNA repair pathways. Variants within CHEK2 are associated with an increased risk of developing breast, colorectal, prostate and several other types of cancer. Comprehensive genetic risk assessment leads to early detection of hereditary cancer and provides an opportunity for better...

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Identifiers

PMID: 39208550
DOI: 10.1016/j.cancergen.2024.08.081

Genes

CHEK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

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Germline variant profiling of CHEK2 sequencing variants in breast cancer patients.PMID 39208550Read ↗

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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.Semantic proximity Read ↗

Genomic Ascertainment of CHEK2-Related Cancer Predisposition.Semantic proximity Read ↗

Identification and analysis of CHEK2 germline mutations in Chinese BRCA1/2-negative breast cancer patients.Semantic proximity Read ↗

CHEK2 Germline Variants and Their Clinical Implications: Experience from a Turkish Hereditary Cancer Cohort.Semantic proximity Read ↗

Breast cancer risk associated with CHEK2 mutations.Semantic proximity Read ↗

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Semantic proximity Read ↗

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

A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast CancerSemantic proximity Read ↗

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