Patterns and functional implications of rare germline variants across 12 cancer types
Patterns and functional implications of rare germline variants across 12 cancer types
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Author / Creator
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. and Ding, Li
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
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 my...
Alternative Titles
Full title
Patterns and functional implications of rare germline variants across 12 cancer types
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4703835
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4703835
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/ncomms10086
