Article
Patterns and functional implications of rare germline variants across 12 cancer types.
Nature communications - 22 Dec 2015
Lu Charles, Xie Mingchao, Wendl Michael C, Wang Jiayin, McLellan Michael D, Leiserson Mark D M, Huang Kuan-Lin, Wyczalkowski Matthew A, Jayasinghe Reyka, Banerjee Tapahsama, Ning Jie, Tripathi Piyush, Zhang Qunyuan, Niu Beifang, Ye Kai, Schmidt Heather K, Fulton Robert S, McMichael Joshua F, Batra Prag, Kandoth Cyriac, Bharadwaj Maheetha, Koboldt Daniel C, Miller Christopher A, Kanchi Krishna L, Eldred James M, Larson David E, Welch John S, You Ming, Ozenberger Bradley A, Govindan Ramaswamy, Walter Matthew J, Ellis Matthew J, Mardis Elaine R, Graubert Timothy A, Dipersio John F, Ley Timothy J, Wilson Richard K, Goodfellow Paul J, Raphael Benjamin J, Chen Feng, Johnson Kimberly J, Parvin Jeffrey D, Ding Li
Abstract excerpt
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), with a notably...
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