Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.

Journal of the National Cancer Institute(2023)

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摘要
BARD1 and RAD51D behave as classic BRCA-like predisposition genes with biallelic inactivation, but this was not observed for any of the candidate genes. However, as demonstrated for CHEK2, the absence of biallelic inactivation does not provide definitive evidence against the gene's involvement in BC predisposition.
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关键词
breast cancer predisposition genes,pathogenic germline variants,breast cancer
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