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Pathogenic Germline Variants in 10,389 Adult...
Journal article

Pathogenic Germline Variants in 10,389 Adult Cancers

Abstract

We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of SDHA in melanoma and PALB2 in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletions in tumor suppressors, including ATM, BRCA1, and …

Authors

Huang K-L; Mashl RJ; Wu Y; Ritter DI; Wang J; Oh C; Paczkowska M; Reynolds S; Wyczalkowski MA; Oak N

Journal

Cell, Vol. 173, No. 2, pp. 355–370.e14

Publisher

Elsevier

Publication Date

April 2018

DOI

10.1016/j.cell.2018.03.039

ISSN

0092-8674