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High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer

21 Jun 2019

Abstract excerpt

Abstract Genomic screening of cancer patients for predisposing variants is traditionally based on age at onset, family history and type of cancer. Whereas the clinical guidelines have proven efficient in identifying families exhibiting classical attributes of hereditary cancer, the frequency of patients with alternative presentations is unclear. We identified and characterized germline variants in 636 patients...

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PMID: 31263571
DOI: 10.1038/s41525-019-0087-6

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