Rare germline ATM variants of uncertain significance in chronic lymphocytic leukaemia and other cancers
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DOI: 10.1111/bjh.18419
Abstract: Germline pathogenic ATM (ataxia‐telangiectasia mutated) variants are associated with the risk of multiple cancers; however, genetic testing reveals a large number of ATM variants of uncertain significance (VUS). Here, we studied germline ATM variants occurring… read more here.
Keywords: vus; germline atm; atm variants; rare germline ... See more keywords
The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis
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DOI: 10.1186/s12885-020-07749-6
Abstract: Background Ataxia telangiectasia-mutated (ATM) gene contributes to repair damaged DNA and to regulate cell cycle; therefore, ATM variants seem to increase breast cancer risk; however, the results are controversial. So we conducted a systematic review… read more here.
Keywords: cancer; risk breast; atm variants; breast cancer ... See more keywords
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia
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DOI: 10.1200/jco.22.00269
Abstract: PURPOSE Germline missense variants of unknown significance in cancer-related genes are increasingly being identified with the expanding use of next-generation sequencing. The ataxia telangiectasia–mutated (ATM) gene on chromosome 11 has more than 1,000 germline missense… read more here.
Keywords: germline atm; atm variants; patients cll; rare germline ... See more keywords