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
Fields of Research (FoR)
Medical Subject Headings (MeSH)
DNA Copy Number VariationsDatabases, GeneticGene DeletionGene FrequencyGenetic Predisposition to DiseaseGenotypeGerm CellsGerm-Line MutationHumansLoss of HeterozygosityMutation, MissenseNeoplasmsPolymorphism, Single NucleotideProto-Oncogene Proteins c-metProto-Oncogene Proteins c-retTumor Suppressor Proteins