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Germline variant burden in cancer genes correlates with age at diagnosis and somatic mutation burden

15 May 2020

Abstract excerpt

Cancers harbor many somatic mutations and germline variants, we hypothesized that the combined effect of germline variants that alter the structure, expression, or function of protein-coding regions of cancer-biology related genes (gHFI) determines which and how many somatic mutations (sM) must occur for malignant transformation. We show that gHFI and sM affect overlapping genes and the average number of gHFI in...

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PMID: 32415133
DOI: 10.1038/s41467-020-16293-7

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