دورية أكاديمية

Pathogenic Germline Variants in 10,389 Adult Cancers

التفاصيل البيبلوغرافية
العنوان: Pathogenic Germline Variants in 10,389 Adult Cancers
المؤلفون: Huang, K., Mashl, R.J., Yige, W., Ritter, D.I., Wang, J., Clara, O., Paczkowska, M., Reynolds, S., Wyczalkowski, M.A., Oak, N., Scott, A.D., Krassowski, M., Cherniack, A.D., Houlahan, K.E., Jayasinghe, R., Wang, L., Zhou, D.C., Liu, D., Cao, S., Kim, Y.W., Koire, A., McMichael, J.F., Hucthagowder, V., Kim, T., Hahn, A., Wang, C., McLellan, M.D., Al-Mulla, F., Johnson, K.J., Lichtarge, O., Boutros, P.C., Raphael, B., Lazar, A.J., Zhang, W., Wendl, M.C., Govindan, R., Jain, S., Wheeler, D., Kulkarni, S., Dipersio, J.F., Reimand, J., Meric-Bernstam, F., Chen, K., Shmulevich, I., Plon, S.E., Chen, F., Ding, L., Caesar-Johnson, S.J., Demchok, J.A., Felau, I., Kasapi, M., Ferguson, M.L., Hutter, C.M., Sofia, H.J., Tarnuzzer, R., Wang, Z., Yang, L., Zenklusen, J.C., Zhang, J.(., Chudamani, S., Liu, J., Lolla, L., Naresh, R., Pihl, T., Sun, Q., Wan, Y., Ye, W., Cho, J., DeFreitas, T., Frazer, S., Gehlenborg, N., Getz, G., Heiman, D.I., Kim, J., Lawrence, M.S., Lin, P., Meier, S., Noble, M.S., Saksena, G., Voet, D., Zhang, H., Bernard, B., Chambwe, N., Dhankani, V., Knijnenburg, T., Kramer, R., Leinonen, K., Liu, Y., Miller, M., Thorsson, V., Akbani, R., Broom, B.M., Hegde, A.M., Zhenlin, J., Kanchi, R.S., Korkut, A., Jun, L., Liang, H., Ling, S., Liu, W., Yiling, L., Mills, G.B., Kwok-Shing, N., Rao, A., Ryan, M., Weinstein, J.N., Zhang, J., Abeshouse, A., Armenia, J., Chakravarty, D., Chatila, W.K., de Bruijn, I., Gao, J., Gross, B.E., Heins, Z.J., Kundra, R., Konnor, L., Ladanyi, M., Luna, A., Nissan, M.G., Ochoa, A., Phillips, S.M., Reznik, E., Sanchez-Vega, F., Sander, C., Schultz, N., Sheridan, R., Sumer, S.O., Sun, Y., Taylor, B.S., Anur, P., Peto, M., Spellman, P., Benz, C., Stuart, J.M., Wong, C.K., Yau, C., Hayes, D.N., Parker, J.S., Wilkerson, M.D., Ally, A., Balasundaram, M., Bowlby, R., Brooks, D., Carlsen, R., Chuah, E., Dhalla, N., Holt, R., Jones, S.J.M., Kasaian, K., Lee, D., Yussanne, M., Marra, M.A., Mayo, M., Moore, R.A., Mungall, A.J., Mungall, K., Robertson, A.G., Sadeghi, S., Schein, J.E., Sipahimalani, P., Tam, A., Thiessen, N., Tse, K., Wong, T., Berger, A.C., Beroukhim, R., Cibulskis, C., Gabriel, S.B., Gao, G.F., Gavin, H., Meyerson, M., Schumacher, S.E., Shih, J., Kucherlapati, M.H., Kucherlapati, R.S., Baylin, S., Cope, L., Danilova, L., Bootwalla, M.S., Lai, P.H., Maglinte, D.T., Van Den Berg, D.J., Weisenberger, D.J., Auman, J.T., Balu, S., Bodenheimer, T., Fan, C., Hoadley, K.A., Hoyle, A.P., Jefferys, S.R., Jones, C.D., Meng, S., Mieczkowski, P.A., Mose, L.E., Perou, A.H., Perou, C.M., Roach, J., Shi, Y., Simons, J.V., Skelly, T., Soloway, M.G., Tan, D., Veluvolu, U., Fan, H., Hinoue, T., Laird, P.W., Shen, H., Zhou, W., Bellair, M., Chang, K., Covington, K., Creighton, C.J., Dinh, H., Doddapaneni, H., Donehower, L.A., Drummond, J., Gibbs, R.A., Glenn, R., Hale, W., Han, Y., Jianhong, H., Korchina, V., Lee, S., Lewis, L., Wei, L., Liu, X., Morgan, M., Morton, D., Muzny, D., Santibanez, J., Sheth, M., Shinbrot, E., Wang, M., Wheeler, D.A., Zhao, F., Hess, J., Appelbaum, E.L., Bailey, M., Cordes, M.G., Fronick, C.C., Fulton, L.A., Fulton, R.S., Kandoth, C., Mardis, E.R., Miller, C.A., Schmidt, H.K., Wilson, R.K., Crain, D., Curley, E., Gardner, J., Lau, K., Mallery, D., Morris, S., Paulauskis, J., Penny, R., Shelton, C., Shelton, T., Sherman, M., Thompson, E., Yena, P., Bowen, J., Gastier-Foster, J.M., Gerken, M., Leraas, K.M., Lichtenberg, T.M., Ramirez, N.C., Wise, L., Zmuda, E., Corcoran, N., Costello, T., Hovens, C., Carvalho, A.L., de Carvalho, A.C., Fregnani, J.H., Longatto-Filho, A., Reis, R.M., Scapulatempo-Neto, C., Silveira, H.C.S., Vidal, D.O., Burnette, A., Eschbacher, J., Hermes, B., Noss, A., Singh, R., Anderson, M.L., Castro, P.D., Ittmann, M., Huntsman, D., Kohl, B., Xuan, L., Thorp, R., Andry, C., Duffy, E.R., Lyadov, V., Paklina, O., Setdikova, G., Shabunin, A., Tavobilov, M., McPherson, C., Warnick, R., Berkowitz, R., Cramer, D., Feltmate, C., Horowitz, N., Kibel, A., Muto, M., Raut, C.P., Malykh, A., Barnholtz-Sloan, J.S., Barrett, W., Devine, K., Fulop, J., Ostrom, Q.T., Shimmel, K., Wolinsky, Y., Sloan, A.E., De Rose, A., Giuliante, F., Goodman, M., Karlan, B.Y., Hagedorn, C.H., Eckman, J., Harr, J., Myers, J., Tucker, K., Zach, L.A., Deyarmin, B., Hai, H., Kvecher, L., Larson, C., Mural, R.J., Somiari, S., Vicha, A., Zelinka, T., Bennett, J., Iacocca, M., Rabeno, B., Swanson, P., Latour, M., Lacombe, L., T #234, tu, B., Bergeron, A., McGraw, M., Staugaitis, S.M., Chabot, J., Hibshoosh, H., Sepulveda, A., Tao, S., Wang, T., Potapova, O., Voronina, O., Desjardins, L., Mariani, O., Roman-Roman, S., Sastre, X., Stern, M., Cheng, F., Signoretti, S., Berchuck, A., Bigner, D., Lipp, E., Marks, J., McCall, S., McLendon, R., Secord, A., Sharp, A., Behera, M., Brat, D.J., Chen, A., Delman, K., Force, S., Khuri, F., Magliocca, K., Maithel, S., Olson, J.J., Owonikoko, T., Pickens, A., Ramalingam, S., Shin, D.M., Sica, G., Van Meir, E.G., Eijckenboom, W., Gillis, A., Korpershoek, E., Looijenga, L., Oosterhuis, W., Stoop, H., van Kessel, K.E., Zwarthoff, E.C., Calatozzolo, C., Cuppini, L., Cuzzubbo, S., DiMeco, F., Finocchiaro, G., Mattei, L., Perin, A., Pollo, B., Chen, C., Houck, J., Lohavanichbutr, P., Hartmann, A., Stoehr, C., Stoehr, R., Taubert, H., Wach, S., Wullich, B., Kycler, W., Murawa, D., Wiznerowicz, M., Chung, K., Edenfield, W.J., Martin, J., Baudin, E., Bubley, G., Bueno, R., De Rienzo, A., Richards, W.G., Kalkanis, S., Mikkelsen, T., Noushmehr, H., Scarpace, L., Girard, N., Aymerich, M., Campo, E., Gin #233, E., Guillermo, A.L., Van Bang, N., Hanh, P.T., Phu, B.D., Tang, Y., Colman, H., Evason, K., Dottino, P.R., Martignetti, J.A., Gabra, H., Juhl, H., Akeredolu, T., Stepa, S., Hoon, D., Ahn, K., Kang, K.J., Beuschlein, F., Breggia, A., Birrer, M., Bell, D., Borad, M., Bryce, A.H., Castle, E., Chandan, V., Cheville, J., Copland, J.A., Farnell, M., Flotte, T., Giama, N., Thai, H., Kendrick, M., Kocher, J., Kopp, K., Moser, C., Nagorney, D., O #8217, Brien, D., Neill, B.P., Patel, T., Petersen, G., Que, F., Rivera, M., Roberts, L., Smallridge, R., Smyrk, T., Stanton, M., Thompson, R.H., Torbenson, M., Yang, J.D., Zhang, L., Brimo, F., Ajani, J.A., Gonzalez, A.M.A., Behrens, C., Bondaruk, J., Broaddus, R., Czerniak, B., Esmaeli, B., Fujimoto, J., Gershenwald, J., Guo, C., Logothetis, C., Moran, C., Ramondetta, L., Rice, D., Sood, A., Tamboli, P., Thompson, T., Troncoso, P., Tsao, A., Wistuba, I., Carter, C., Haydu, L., Hersey, P., Jakrot, V., Kakavand, H., Kefford, R., Lee, K., Long, G., Mann, G., Quinn, M., Saw, R., Scolyer, R., Shannon, K., Spillane, A., Stretch, J., Synott, M., Thompson, J., Wilmott, J., Al-Ahmadie, H., Chan, T.A., Ghossein, R., Gopalan, A., Levine, D.A., Reuter, V., Singer, S., Singh, B., Tien, N.V., Broudy, T., Mirsaidi, C., Nair, P., Drwiega, P., Miller, J., Smith, J., Zaren, H., Park, J., Hung, N.P., Kebebew, E., Linehan, W.M., Metwalli, A.R., Pacak, K., Pinto, P.A., Schiffman, M., Schmidt, L.S., Vocke, C.D., Wentzensen, N., Worrell, R., Yang, H., Moncrieff, M., Goparaju, C., Melamed, J., Pass, H., Botnariuc, N., Caraman, I., Cernat, M., Chemencedji, I., Clipca, A., Doruc, S., Gorincioi, G., Mura, S., Pirtac, M., Stancul, I., Tcaciuc, D., Albert, M., Alexopoulou, I., Arnaout, A., Bartlett, J., Engel, J., Gilbert, S., Parfitt, J., Sekhon, H., Thomas, G., Rassl, D.M., Rintoul, R.C., Bifulco, C., Tamakawa, R., Urba, W., Hayward, N., Timmers, H., Antenucci, A., Facciolo, F., Grazi, G., Marino, M., Merola, R., de Krijger, R., Gimenez-Roqueplo, A., Pich #233, A., Chevalier, S., McKercher, G., Birsoy, K., Barnett, G., Brewer, C., Farver, C., Naska, T., Pennell, N.A., Raymond, D., Schilero, C., Smolenski, K., Williams, F., Morrison, C., Borgia, J.A., Liptay, M.J., Pool, M., Seder, C.W., Junker, K., Omberg, L., Dinkin, M., Manikhas, G., Alvaro, D., Bragazzi, M.C., Cardinale, V., Carpino, G., Gaudio, E., Chesla, D., Cottingham, S., Dubina, M., Moiseenko, F., Dhanasekaran, R., Becker, K., Janssen, K., Slotta-Huspenina, J., Abdel-Rahman, M.H., Aziz, D., Bell, S., Cebulla, C.M., Davis, A., Duell, R., Elder, J.B., Hilty, J., Kumar, B., Lang, J., Lehman, N.L., Mandt, R., Nguyen, P., Pilarski, R., Rai, K., Schoenfield, L., Senecal, K., Wakely, P., Hansen, P., Lechan, R., Powers, J., Tischler, A., Grizzle, W.E., Sexton, K.C., Kastl, A., Henderson, J., Porten, S., Waldmann, J., Fassnacht, M., Asa, S.L., Schadendorf, D., Couce, M., Graefen, M., Huland, H., Sauter, G., Schlomm, T., Simon, R., Tennstedt, P., Olabode, O., Nelson, M., Bathe, O., Carroll, P.R., Chan, J.M., Disaia, P., Glenn, P., Kelley, R.K., Landen, C.N., Phillips, J., Prados, M., Simko, J., Smith-McCune, K., VandenBerg, S., Roggin, K., Fehrenbach, A., Kendler, A., Sifri, S., Steele, R., Jimeno, A., Carey, F., Forgie, I., Mannelli, M., Carney, M., Hernandez, B., Campos, B., Herold-Mende, C., Jungk, C., Unterberg, A., von Deimling, A., Bossler, A., Galbraith, J., Jacobus, L., Knudson, M., Knutson, T., Deqin, M., Milhem, M., Sigmund, R., Godwin, A.K., Madan, R., Rosenthal, H.G., Adebamowo, C., Adebamowo, S.N., Boussioutas, A., Beer, D., Giordano, T., Mes-Masson, A., Saad, F., Bocklage, T., Landrum, L., Mannel, R., Moore, K., Moxley, K., Postier, R., Walker, J., Zuna, R., Feldman, M., Valdivieso, F., Dhir, R., Luketich, J., Pinero, E.M.M., Quintero-Aguilo, M., Carlotti, C.G., Dos Santos, J.S., Kemp, R., Sankarankuty, A., Tirapelli, D., Catto, J., Agnew, K., Swisher, E., Creaney, J., Robinson, B., Shelley, C.S., Godwin, E.M., Kendall, S., Shipman, C., Bradford, C., Carey, T., Haddad, A., Moyer, J., Peterson, L., Prince, M., Rozek, L., Wolf, G., Bowman, R., Fong, K.M., Yang, I., Korst, R., Rathmell, W.K., Fantacone-Campbell, J.L., Hooke, J.A., Kovatich, A.J., Shriver, C.D., DiPersio, J., Drake, B., Heath, S., Ley, T., Van Tine, B., Westervelt, P., Rubin, M.A., Lee, J.I., Aredes, N.D., Mariamidze, A.
المساهمون: SAIC-F-Frederick, Inc, Leidos Biomedical Research, Inc.
المصدر: S0092867418303635 ; 10.1016/j.cell.2018.03.039 ; 2796208126 ; 10.7892/boris.126374 ; oai:boris.unibe.ch:126374 ; oai:spiral.imperial.ac.uk:10044/1/71219 ; oai:pubmedcentral.nih.gov:5949147 ; oai:air.unimi.it:2434/586845 ; oai:cris.unibo.it:11585/743155 ; 10|openaire____::081b82f96300b6a6e3d282bad31cb6e2 ; 10|issn___print::2fc4090b73f588b1733352da5f49a1c6 ; 10|openaire____::8ac8380272269217cb09a928c8caa993 ; 10|openaire____::5f532a3fc4f1ea403f37070f59a7a53a ; 10|openaire____::9e3be59865b2c1c335d32dae2fe7b254 ; 10|openaire____::55045bd2a65019fd8e6741a755395c8c ; 10|opendoar____::6917ff2a7b53421ff4066020e2d89eec ; 10|opendoar____::995e1fda4a2b5f55ef0df50868bf2a8f ; 10|openaire____::8f87e10869299a5fe80b315695296b88 ; openaire____::1256f046-bf1f-4afc-8b47-d0b147148b18 ; 10|opendoar____::eda80a3d5b344bc40f3bc04f65b7a357 ; 10|opendoar____::8b6dd7db9af49e67306feb59a8bdc52c ; 10|opendoar____::17326d10d511828f6b34fa6d751739e2 ; 10|opendoar____::64c53a52cb3bd1a01c03a64db985c0cc ; 10|openaire____::806360c771262b4d6770e7cdf04b5c5a
بيانات النشر: Elsevier BV
سنة النشر: 2018
مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, 610 Medicine &, health, 610 Medicine & health, Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Cell Biology, MUTATIONS, KINASE, DISCOVERY, BRCA1, GUIDELINES, GENOMICS, SITES, RISK, LOH, cancer predisposition, germline and somatic genomes, variant pathogenicity, DNA Copy Number Variations, Databases, Genetic, Gene Deletion, Gene Frequency, Genetic Predisposition to Disease, Germ Cells, Germ-Line Mutation, Humans
الوصف: 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 PALB2 in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletions in tumor suppressors, including ATM, BRCA1, and NF1, showed low gene expression and frequent (43%) loss of heterozygosity or biallelic two-hit events. We also discovered 33 such variants in oncogenes, including missenses in MET, RET, and PTPN11 associated with high gene expression. We nominated 47 additional predisposition variants from prioritized VUSs supported by multiple evidences involving case-control frequency, loss of heterozygosity, expression effect, and co-localization with mutations and modified residues. Our integrative approach links rare predisposition variants to functional consequences, informing future guidelines of variant classification and germline genetic testing in cancer. A pan-cancer analysis identifies hundreds of predisposing germline variants.
نوع الوثيقة: article in journal/newspaper
اللغة: unknown
العلاقة: https://api.elsevier.com/content/article/PII:S0092867418303635?httpAccept=text/xmlTest; https://api.elsevier.com/content/article/PII:S0092867418303635?httpAccept=text/plainTest; http://dx.doi.org/10.1016/j.cell.2018.03.039Test; http://www.cell.com/article/S0092867418303635/pdfTest; https://pubmed.ncbi.nlm.nih.gov/29625052Test/; https://www.cell.com/cell/fulltext/S0092-8674Test(18)30363-5; https://www.sciencedirect.com/science/article/pii/S0092867418303635Test; https://www.ncbi.nlm.nih.gov/pubmed/29625052Test; https://escholarship.org/uc/item/9vw091q0Test; https://espace.library.uq.edu.au/view/UQ:1a1f1e7Test; https://dialnet.unirioja.es/servlet/articulo?codigo=6557739Test; https://digitalcommons.psjhealth.org/publications/385Test/; https://repositorio.usp.br/item/002937427Test; http://www.cell.com/cell/fulltext/S0092-8674Test(18)30363-5?dgcid=STMJ_1522958526_SC; https://hsrc.himmelfarb.gwu.edu/smhs_path_facpubs/648Test/; http://mediatum.ub.tum.de/1439403Test; https://pesquisa.bvsalud.org/brasil/resource/pt/mdl-29625052Test; https://academic.microsoft.com/#/detail/2796208126Test; http://dx.doi.org/10.7892/boris.126374Test; https://dx.doi.org/10.7892/boris.126374Test; https://boris.unibe.ch/126374Test/; http://hdl.handle.net/10044/1/71219Test; https://dx.doi.org/10.1016/j.cell.2018.03.039Test; https://europepmc.org/articles/PMC5949147Test/; http://hdl.handle.net/2434/586845Test; http://hdl.handle.net/11585/743155Test
DOI: 10.1016/j.cell.2018.03.039
DOI: 10.7892/boris.126374
الإتاحة: https://doi.org/10.1016/j.cell.2018.03.039Test
https://doi.org/10.7892/boris.126374Test
https://api.elsevier.com/content/article/PII:S0092867418303635?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0092867418303635?httpAccept=text/plainTest
http://www.cell.com/article/S0092867418303635/pdfTest
https://pubmed.ncbi.nlm.nih.gov/29625052Test/
https://www.cell.com/cell/fulltext/S0092-8674Test(18)30363-5
https://www.sciencedirect.com/science/article/pii/S0092867418303635Test
https://www.ncbi.nlm.nih.gov/pubmed/29625052Test
https://escholarship.org/uc/item/9vw091q0Test
حقوق: lic_creative-commons
رقم الانضمام: edsbas.1E65121E
قاعدة البيانات: BASE