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Hammerman PS, Lawrence MS, Voet D, Jing R, Cibulskis K, Sivachenko A, Stojanov P, McKenna A, Lander ES, Gabriel S, Getz G, Sougnez C, Imielinski M, Helman E, Hernandez B, Pho NH, Meyerson M, Chu A, Chun HJ, Mungall AJ, Pleasance E, Robertson AG, Sipahimalani P, Stoll D, Balasundaram M, Birol I, Butterfield YS, Chuah E, Coope RJ, Corbett R, Dhalla N, Guin R, Hirst AC, Hirst M, Holt RA, Lee D, Li HI, Mayo M, Moore RA, Mungall K, Nip KM, Olshen A, Schein JE, Slobodan JR, Tam A, Thiessen N, Varhol R, Zeng T, Zhao Y, Jones SJ, Marra MA, Saksena G, Cherniack AD, Schumacher SE, Tabak B, Carter SL, Nguyen H, Onofrio RC, Crenshaw A, Ardlie K, Beroukhim R, Winckler W, Protopopov A, Zhang JH, Hadjipanayis A, Lee S, Xi RB, Yang LX, Ren XJ, Zhang HL, Shukla S, Chen PC, Haseley P, Lee E, Chin L, Park PJ, Kucherlapati R, Socci ND, Liang YP, Schultz N, Borsu L, Lash AE, Viale A, Sander C, Ladanyi M, Auman JT, Hoadley KA, Wilkerson MD, Shi Y, Liquori C, Meng SW, Li L, Turman YJ, Topal MD, Tan DH, Waring S, Buda E, Walsh J, Jones CD, Mieczkowski PA, Singh D, Wu J, Gulabani A, Dolina P, Bodenheimer T, Hoyle AP, Simons JV, Soloway MG, Mose LE, Jefferys SR, Balu S, O'Connor BD, Prins JF, Liu J, Chiang DY, Hayes DN, Perou CM, Cope L, Danilova L, Weisenberger DJ, Maglinte DT, Pan F, den Berg DJ, Triche T, Herman JG, Baylin SB, Laird PW, Noble M, Gehlenborg N, DiCara D, Wu CJ, Liu SY, Zou LH, Lin P, Cho J, Nazaire MD, Robinson J, Thorvaldsdottir H, Mesirov J, Sinha R, Ciriello G, Cerami E, Gross B, Jacobsen A, Gao J, Aksoy BA, Weinhold N, Ramirez R, Taylor BS, Antipin Y, Reva B, Shen RL, Mo Q, Seshan V, Paik PK, Akbani R, Zhang NX, Broom BM, Casasent T, Unruh A, Wakefield C, Cason RC, Baggerly KA, Weinstein JN, Haussler D, Benz CC, Stuart JM, Zhu JC, Szeto C, Scott GK, Yau C, Ng S, Goldstein T, Waltman P, Sokolov A, Ellrott K, Collisson EA, Zerbino D, Wilks C, Ma S, Craft B, Du Y, Cabanski C, Walter V, Wu JY, Marron JS, Liu Y, Wang K, Creighton CJ, Zhang YQ, Travis WD, Rekhtman N, Yi J, Aubry MC, Cheney R, Dacic S, Flieder D, Funkhouser W, Illei P, Myers J, Tsao MS, Penny R, Mallery D, Shelton T, Hatfield M, Morris S, Yena P, Shelton C, Sherman M, Paulauskis J, Govindan R, Azodo I, Beer D, Bose R, Byers LA, Carbone D, Chang LW, Chiang D, Chun E, Collisson E, Ding L, Heymach J, Ida C, Johnson B, Jurisica I, Kaufman J, Kosari F, Kwiatkowski D, Maher CA, Mungall A, Pao W, Peifer M, Robertson G, Rusch V, Siegfried J, Stuart J, Thomas RK, Tomaszek S, Vaske C, Weisenberger D, Wheeler D, Wigle DA, Yang P, Zhang JJ, Jensen MA, Sfeir R, Kahn AB, Chu AL, Kothiyal P, Wang Z, Snyder EE, Pontius J, Pihl TD, Ayala B, Backus M, Walton J, Baboud J, Berton DL, Nicholls MC, Srinivasan D, Raman R, Girshik S, Kigonya PA, Alonso S, Sanbhadti RN, Barletta SP, Greene JM, Pot DA, Bandarchi-Chamkhaleh B, Boyd J, Weaver J, Azodo IA, Tomaszek SC, Ida CM, Brock MV, Rogers K, Rutledge M, Brown T, Lee B, Shin J, Trusty D, Dhir R, Siegfried JM, Potapova O, Fedosenko KV, Nemirovich-Danchenko E, Zakowski M, Iacocca MV, Brown J, Rabeno B, Czerwinski C, Petrelli N, Fan Z, Todaro N, Eckman J, Rathmell WK, Thorne LB, Huang M, Boice L, Hill A, Curley E, Morrison C, Gaudioso C, Bartlett JS, Kodeeswaran S, Zanke B, Sekhon H, David K, Juhl H, Van Le X, Kohl B, Thorp R, Tien NV, Van Bang N, Sussman H, Phu BD, Hajek R, PhiHung N, Khan KZ, Muley T, Shaw KR, Sheth M, Yang L, Buetow K, Davidsen T, Demchok JA, Eley G, Ferguson M, Dillon LA, Schaefer C, Guyer MS, Ozenberger BA, Palchik JD, Peterson J, Sofia HJ, Thomson E
Comprehensive genomic characterization of squamous cell lung cancers
Nature (2012) 489:519-525.
Abstract
Lung squamous cell carcinoma is a common type of lung cancer, causing approximately 400,000 deaths per year worldwide. Genomic alterations in squamous cell lung cancers have not been comprehensively characterized, and no molecularly targeted agents have been specifically developed for its treatment. As part of The Cancer Genome Atlas, here we profile 178 lung squamous cell carcinomas to provide a comprehensive landscape of genomic and epigenomic alterations. We show that the tumour type is characterized by complex genomic alterations, with a mean of 360 exonic mutations, 165 genomic rearrangements, and 323 segments of copy number alteration per tumour. We find statistically recurrent mutations in 11 genes, including mutation of TP53 in nearly all specimens. Previously unreported loss-of-function mutations are seen in the HLA-A class I major histocompatibility gene. Significantly altered pathways included NFE2L2 and KEAP1 in 34%, squamous differentiation genes in 44%, phosphatidylinositol-3-OH kinase pathway genes in 47%, and CDKN2A and RB1 in 72% of tumours. We identified a potential therapeutic target in most tumours, offering new avenues of investigation for the treatment of squamous cell lung cancers.
Note
Publication Date: 2012-09-01.
PMCID: PMC3466113
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Last updated on Thursday, July 09, 2020