Patterns and functional implications of rare germline variants across 12 cancer types

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Patterns and functional implications of rare germline variants across 12 cancer types

Large-scale cancer sequencing data enable discovery of rare germline cancer susceptibility variants. Here we systematically analyse 4,034 cases from The Cancer Genome Atlas cancer cases representing 12 cancer types. We find that the frequency of rare germline truncations in 114 cancer-susceptibility-associated genes varies widely, from 4% (acute myeloid leukaemia (AML)) to 19% (ovarian cancer),...

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ژورنال

عنوان ژورنال: Nature Communications

سال: 2015

ISSN: 2041-1723

DOI: 10.1038/ncomms10086