Pathogenic germline variants in 10,389 adult cancers

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...

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Pubblicato in:Cell
Autori principali: Huang, Kuan-lin, Mashl, R. Jay, Wu, Yige, Ritter, Deborah I., Wang, Jiayin, Oh, Clara, Paczkowska, Marta, Reynolds, Sheila, Wyczalkowski, Matthew A., Oak, Ninad, Scott, Adam D., Krassowski, Michal, Cherniack, Andrew D., Houlahan, Kathleen E., Jayasinghe, Reyka, Wang, Liang-Bo, Zhou, Daniel Cui, Liu, Di, Cao, Song, Kim, Young Won, Koire, Amanda, McMichael, Joshua F., Hucthagowder, Vishwanathan, Kim, Tae-Beom, Hahn, Abigail, Wang, Chen, McLellan, Michael D., Al-Mulla, Fahd, Johnson, Kimberly J., Lichtarge, Olivier, Boutros, Paul C., Raphael, Benjamin, Lazar, Alexander J., Zhang, Wei, Wendl, Michael C., Govindan, Ramaswamy, Jain, Sanjay, Wheeler, David, Kulkarni, Shashikant, Dipersio, John F., Reimand, Jüri, Meric-Bernstam, Funda, Chen, Ken, Shmulevich, Ilya, Plon, Sharon E., Chen, Feng, Ding, Li
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2018
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5949147/
https://ncbi.nlm.nih.gov/pubmed/29625052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2018.03.039
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