Comprehensive genomic characterization of squamous cell lung cancers.
Details
Serval ID
serval:BIB_C6A905D4766B
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Comprehensive genomic characterization of squamous cell lung cancers.
Journal
Nature
Working group(s)
Cancer Genome Atlas Research Network
Contributor(s)
Hammerman P.S., Lawrence M.S., Voet D., Jing R., Cibulskis K., Sivachenko A., Stojanov P., McKenna A., Lander E.S., Gabriel S., Getz G., Sougnez C., Imielinski M., Helman E., Hernandez B., Pho N.H., Meyerson M., Chu A., Chun H.J., Mungall A.J., Pleasance E., Robertson A., Sipahimalani P., Stoll D., Balasundaram M., Birol I., Butterfield Y.S., Chuah E., Coope R.J., Corbett R., Dhalla N., Guin R., He A., Hirst C., Hirst M., Holt R.A., Lee D., Li H.I., Mayo M., Moore R.A., Mungall K., Nip K.M., Olshen A., Schein J.E., Slobodan J.R., Tam A., Thiessen N., Varhol R., Zeng T., Zhao Y., Jones S.J., Marra M.A., Saksena G., Cherniack A.D., Schumacher S.E., Tabak B., Carter S.L., Pho N.H., Nguyen H., Onofrio R.C., Crenshaw A., Ardlie K., Beroukhim R., Winckler W., Hammerman P.S., Getz G., Meyerson M., Protopopov A., Zhang J., Hadjipanayis A., Lee S., Xi R., Yang L., Ren X., Zhang H., Shukla S., Chen P.C., Haseley P., Lee E., Chin L., Park P.J., Kucherlapati R., Socci N.D., Liang Y., Schultz N., Borsu L., Lash A.E., Viale A., Sander C., Ladanyi M., Auman T., Hoadley K.A., Wilkerson M.D., Shi Y., Liquori C., Meng S., Li L., Turman Y.J., Topal M.D., Tan D., Waring S., Buda E., Walsh J., Jones C.D., Mieczkowski P.A., Singh D., Wu J., Gulabani A., Dolina P., Bodenheimer T., Hoyle A.P., Simons J.V., Soloway M.G., Mose L.E., Jefferys S.R., Balu S., O'Connor B.D., Prins J.F., Liu J., Chiang D.Y., Hayes D., Perou C.M., Cope L., Danilova L., Weisenberger D.J., Maglinte D.T., Pan F., Van Den Berg D.J., Triche T., Herman J.G., Baylin S.B., Laird P.W., Getz G., Noble M., Voet D., Saksena G., Gehlenborg N., DiCara D., Zhang J., Zhang H., Wu C.J., Liu S.Y., Lawrence M.S., Zou L., Sivachenko A., Lin P., Stojanov P., Jing R., Cho J., Nazaire M.D., Robinson J., Thorvaldsdottir H., Mesirov J., Park P.J., Chin L., Schultz N., Sinha R., Ciriello G., Cerami E., Gross B., Jacobsen A., Gao J., Aksoy B., Weinhold N., Ramirez R., Taylor B.S., Antipin Y., Reva B., Shen R., Mo Q., Seshan V., Paik P.K., Ladanyi M., Sander C., Akbani R., Zhang N., Broom B.M., Casasent T., Unruh A., Wakefield C., Cason R., Baggerly K.A., Weinstein J.N., Haussler D., Benz C.C., Stuart J.M., Zhu J., Szeto C., Scott G.K., Yau C., Ng S., Goldstein T., Waltman P., Sokolov A., Ellrott K., Collisson E.A., Zerbino D., Wilks C., Ma S., Craft B., Wilkerson M.D., Auman J., Hoadley K.A., Du Y., Cabanski C., Walter V., Singh D., Wu J., Gulabani A., Bodenheimer T., Hoyle A.P., Simons J.V., Soloway M.G., Mose L.E., Jefferys S.R., Balu S., Marron J., Liu Y., Wang K., Liu J., Prins J.F., Hayes D., Perou C.M., Creighton C.J., Zhang Y., Travis W.D., Rekhtman N., Yi J., Aubry M.C., Cheney R., Dacic S., Flieder D., Funkhouser W., Illei P., Myers J., Tsao M.S., Penny R., Mallery D., Shelton T., Hatfield M., Morris S., Yena P., Shelton C., Sherman M., Paulauskis J., Meyerson M., Baylin S.B., Govindan R., Akbani R., Azodo I., Beer D., Bose R., Byers L.A., Carbone D., Chang L.W., Chiang D., Chu A., Chun E., Collisson E., Cope L., Creighton C.J., Danilova L., Ding L., Getz G., Hammerman P.S., Hayes D., Hernandez B., Herman J.G., Heymach J., Ida C., Imielinski M., Johnson B., Jurisica I., Kaufman J., Kosari F., Kucherlapati R., Kwiatkowski D., Ladanyi M., Lawrence M.S., Maher C.A., Mungall A., Ng S., Pao W., Peifer M., Penny R., Robertson G., Rusch V., Sander C., Schultz N., Shen R., Siegfried J., Sinha R., Sivachenko A., Sougnez C., Stoll D., Stuart J., Thomas R.K., Tomaszek S., Tsao M.S., Travis W.D., Vaske C., Weinstein J.N., Weisenberger D., Wheeler D., Wigle D.A., Wilkerson M.D., Wilks C., Yang P., Zhang J.J., Jensen M.A., Sfeir R., Kahn A.B., Chu A.L., Kothiyal P., Wang Z., Snyder E.E., Pontius J., Pihl T.D., Ayala B., Backus M., Walton J., Baboud J., Berton D.L., Nicholls M.C., Srinivasan D., Raman R., Girshik S., Kigonya P.A., Alonso S., Sanbhadti R.N., Barletta S.P., Greene J.M., Pot D.A., Tsao M.S., Bandarchi-Chamkhaleh B., Boyd J., Weaver J., Wigle D.A., Azodo I.A., Tomaszek S.C., Aubry M.C., Ida C.M., Yang P., Kosari F., Brock M.V., Rodgers K., Rutledge M., Brown T., Lee B., Shin J., Trusty D., Dhir R., Siegfried J.M., Potapova O., Fedosenko K.V., Nemirovich-Danchenko E., Rusch V., Zakowski M., Iacocca M.V., Brown J., Rabeno B., Czerwinski C., Petrelli N., Fan Z., Todaro N., Eckman J., Myers J., Rathmell W., Thorne L.B., Huang M., Boice L., Hill A., Penny R., Mallery D., Curley E., Shelton C., Yena P., Morrison C., Gaudioso C., Bartlett J.M., Kodeeswaran S., Zanke B., Sekhon H., David K., Juhl H., Van Le X., Kohl B., Thorp R., Nguyen V.T., Nguyen V.B., Sussman H., Phu B.D., Hajek R., Nguyen P.H., Khan K.Z., Muley T., Shaw K.R., Sheth M., Yang L., Buetow K., Davidsen T., Demchok J.A., Eley G., Ferguson M., Dillon L.A., Schaefer C., Guyer M.S., Ozenberger B.A., Palchik J.D., Peterson J., Sofia H.J., Thomson E.
ISSN
1476-4687 (Electronic)
ISSN-L
0028-0836
Publication state
Published
Issued date
27/09/2012
Peer-reviewed
Oui
Volume
489
Number
7417
Pages
519-525
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural
Publication Status: ppublish
Publication Status: ppublish
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.
Keywords
Adenocarcinoma/drug therapy, Adenocarcinoma/genetics, Adenocarcinoma/metabolism, Carcinoma, Squamous Cell/drug therapy, Carcinoma, Squamous Cell/genetics, Carcinoma, Squamous Cell/metabolism, DNA Mutational Analysis, Gene Deletion, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Genes, p16, Genes, p53/genetics, Genome, Human/genetics, Genomics, Humans, Lung Neoplasms/drug therapy, Lung Neoplasms/genetics, Lung Neoplasms/metabolism, Molecular Targeted Therapy, Mutation/genetics, Mutation Rate, Phosphatidylinositol 3-Kinases/metabolism, Signal Transduction/genetics
Pubmed
Web of science
Open Access
Yes
Create date
06/07/2018 12:02
Last modification date
21/08/2019 6:34
Usage data
