Pathogenic Germline Variants in 10,389 Adult Cancers

Cell64.50
Volume: 173, Issue: 2, Pages: 355 - 370.e14
Published: Apr 1, 2018
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...
Paper Details
Title
Pathogenic Germline Variants in 10,389 Adult Cancers
Published Date
Apr 1, 2018
Journal
Volume
173
Issue
2
Pages
355 - 370.e14
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