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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703835/
https://www.ncbi.nlm.nih.gov/pubmed/26689913
http://dx.doi.org/10.1038/ncomms10086

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