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Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

BMC cancer - 4 Apr 2024

Zhao Bojin, Li Jiaheng, Sinha Siddharth, Qin Zixin, Kou Si Hoi, Xiao Fengxia, Lei Huijun, Chen Tianhui, Cao Wenming, Ding Xiaofan, Wang San Ming

Abstract excerpt

BACKGROUND: Genome stability is maintained by the DNA damage repair (DDR) system composed of multiple DNA repair pathways of hundreds of genes. Germline pathogenic variation (PV) in DDR genes damages function of the affected DDR genes, leading to genome instability and high risk of diseases, in particular, cancer. Knowing evolutionary origin of the PVs in human DDR genes is essential to understand the etiology of...

Topics

Humans
Phylogeny
DNA Repair
Genes, BRCA2
Neoplasms
Genomic Instability
DNA Damage
Genetic Predisposition to Disease

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 38575974
DOI: 10.1186/s12885-024-12160-6
PMCID: PMC10993466

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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