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Identification of CHEK2 Germline Mutations in BRCA1/2- and PALB2-Negative Breast and Ovarian Cancer Patients.

Human heredity - 1 Jan 2022

Aksoy Fuat, Tezcan Unlu Havva, Cecener Gulsah, Guney Eskiler Gamze, Egeli Unal, Tunca Berrin, Efendi Erdem Ecem, Senol Kazım, Gokgoz Mustafa Sehsuvar

Abstract excerpt

INTRODUCTION: The CHEK2 gene is known to be an important signal transducer involved in DNA repair, apoptosis, or cell cycle arrest in response to DNA damage. The mutations in this gene have been associated with a wide range of cancers, both sporadic and hereditary. Germline CHEK2 mutations are linked to an increased risk of breast cancer. Therefore, the aim of this study was to identify the prevalence of CHEK2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 34991090
DOI: 10.1159/000521369

Genes

CHEK2
BRCA1
PALB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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