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Uncovering variable neoplasms between ATM protein-truncating and common missense variants using 394 694 UK Biobank exomes.

Genes, chromosomes & cancer - 1 Sept 2022

Jiang Xiao, O'Neill Amanda, Smith Katherine R, Lai Zhongwu, Carss Keren, Wang Quanli, Petrovski Slavé

Abstract excerpt

As an essential regulator of DNA damage, ataxia-telangiectasia mutated (ATM) gene has been widely studied in oncology. However, the independent effects of ATM missense variants and protein-truncating variants (PTVs) on neoplasms have not been heavily studied. Whole-exome sequencing data and the clinical health records of 394,694 UK Biobank European participants were used in this analysis. We mined genetic...

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PMID: 35394676
DOI: 10.1002/gcc.23042

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