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Germline variant spectrum of hereditary cancer susceptibility genes in a Chinese cohort.

Human genomics - 1 Dec 2025

Xiong Chanyu, Wang Xiao, Ji Juanjuan, Yu Tianshu, Zhang Yun, Jiang Zhilin, Liu Jinbo, Zhang Junyu, Lin Yin, Gong Bo, Zhou Yu

Abstract excerpt

BACKGROUND: Hereditary cancers, caused by germline pathogenic variants in cancer susceptibility genes, account for 5%∼10% of malignancies globally. However, their prevalence and genetic spectrum in the Chinese population remain poorly characterized. This study aimed to investigate germline pathogenic variants in 21 cancer susceptibility genes within a Chinese cohort undergoing routine health examinations....

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Identifiers

PMID: 41327405
DOI: 10.1186/s40246-025-00873-z
PMCID: PMC12777394

Genes

ATM
BRCA2
MUTYH
BRCA1
CHEK2
PALB2

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