Patterns and functional implications of rare germline variants across 12 cancer types

  title={Patterns and functional implications of rare germline variants across 12 cancer types},
  author={Charles Lu and Mingchao Xie and Michael C. Wendl and Jiayin Wang and Michael D. McLellan and Mark D. M. Leiserson and Kuan-Lin Huang and Matthew A. Wyczalkowski and Reyka Jayasinghe and Tapahsama Banerjee and Jie Ning and Piyush Tripathi and Qunyuan Zhang and Beifang Niu and Kai Ye and Heather K. Schmidt and Robert S. Fulton and Joshua F. McMichael and Prag Batra and Cyriac Kandoth and Maheetha Bharadwaj and Daniel C. Koboldt and Christopher A Miller and Krishna Latha Kanchi and James M. Eldred and David E. Larson and John S. Welch and Ming You and Bradley A Ozenberger and Ramaswamy Govindan and Matthew J. Walter and Matthew J. Ellis and Elaine R. Mardis and Timothy A. Graubert and John F. DiPersio and Timothy J. Ley and Richard K. Wilson and Paul J Goodfellow and Benjamin J. Raphael and Feng Chen and Kimberly J Johnson and Jeffrey D. Parvin and Li Ding},
  booktitle={Nature communications},
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 high frequency of 11% in stomach cancer. Burden testing identifies 13 cancer genes… CONTINUE READING
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