Comprehensive molecular characterization of human colon and rectal cancer.
Details
Serval ID
serval:BIB_273903FFB87F
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Comprehensive molecular characterization of human colon and rectal cancer.
Journal
Nature
Working group(s)
Cancer Genome Atlas Network
Contributor(s)
Muzny D.M., Bainbridge M.N., Chang K., Dinh H.H., Drummond J.A., Fowler G., Kovar C.L., Lewis L.R., Morgan M.B., Newsham I.F., Reid J.G., Santibanez J., Shinbrot E., Trevino L.R., Wu Y.Q., Wang M., Gunaratne P., Donehower L.A., Creighton C.J., Wheeler D.A., Gibbs R.A., Lawrence M.S., Voet D., Jing R., Cibulskis K., Sivachenko A., Stojanov P., McKenna A., Lander E.S., Gabriel S., Getz G., Ding L., Fulton R.S., Koboldt D.C., Wylie T., Walker J., Dooling D.J., Fulton L., Delehaunty K.D., Fronick C.C., Demeter R., Mardis E.R., Wilson R.K., Chu A., Chun H.J., Mungall A.J., Pleasance E., Robertson A., Stoll D., Balasundaram M., Birol I., Butterfield Y.S., Chuah E., Coope R.J., Dhalla N., Guin R., Hirst C., Hirst M., Holt R.A., Lee D., Li H.I., Mayo M., Moore R.A., Schein J.E., Slobodan J.R., Tam A., Thiessen N., Varhol R., Zeng T., Zhao Y., Jones S.J., Marra M.A., Bass A.J., Ramos A.H., 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., Getz G., Meyerson M., Protopopov A., Zhang J., Hadjipanayis A., Lee E., Xi R., Yang L., Ren X., Zhang H., Sathiamoorthy N., Shukla S., Chen P.C., Haseley P., Xiao Y., Lee S., Seidman J., Chin L., Park P.J., Kucherlapati R., Auman J.T., Hoadley K.A., Du Y., 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., Mose L.E., Jefferys S.R., Balu S., O'Connor B.D., Prins J.F., Chiang D.Y., Hayes D., Perou C.M., Hinoue T., Weisenberger D.J., Maglinte D.T., Pan F., Berman B.P., Van Den Berg D.J., Shen H., Triche T., 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., Shukla S., Lawrence M.S., Zhou L., Sivachenko A., Lin P., Stojanov P., Jing R., Park R.W., Nazaire M.D., Robinson J., Thorvaldsdottir H., Mesirov J., Park P.J., Chin L., Thorsson V., Reynolds S.M., Bernard B., Kreisberg R., Lin J., Iype L., Bressler R., Erkkilä T., Gundapuneni M., Liu Y., Norberg A., Robinson T., Yang D., Zhang W., Shmulevich I., de Ronde J.J., Schultz N., Cerami E., Ciriello G., Goldberg A.P., Gross B., Jacobsen A., Gao J., Kaczkowski B., Sinha R., Aksoy B., Antipin Y., Reva B., Shen R., Taylor B.S., Chan T.A., Ladanyi M., Sander C., Akbani R., Zhang N., Broom B.M., Casasent T., Unruh A., Wakefield C., Hamilton S.R., Cason R., Baggerly K.A., Weinstein J.N., Haussler D., Benz C.C., Stuart J.M., Benz S.C., Sanborn J., Vaske C.J., Zhu J., Szeto C., Scott G.K., Yau C., Ng S., Goldstein T., Ellrott K., Collisson E., Cozen A.E., Zerbino D., Wilks C., Craft B., Spellman P., Penny R., Shelton T., Hatfield M., Morris S., Yena P., Shelton C., Sherman M., Paulauskis J., Gastier-Foster J.M., Bowen J., Ramirez N.C., Black A., Pyatt R., Wise L., White P., Bertagnolli M., Brown J., Chan T.A., Chu G.C., Czerwinski C., Denstman F., Dhir R., Dörner A., Fuchs C.S., Guillem J.G., Iacocca M., Juhl H., Kaufman A., Kohl B., Van Le X., Mariano M.C., Medina E.N., Meyers M., Nash G.M., Paty P.B., Petrelli N., Rabeno B., Richards W.G., Solit D., Swanson P., Temple L., Tepper J.E., Thorp R., Vakiani E., Weiser M.R., Willis J.E., Witkin G., Zeng Z., Zinner M.J., Zornig C., 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., Whitmore 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., Shaw K.R., Dillon L.A., Buetow K., Davidsen T., Demchok J.A., Eley G., Ferguson M., Fielding P., Schaefer C., Sheth M., Yang L., 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
18/07/2012
Peer-reviewed
Oui
Volume
487
Number
7407
Pages
330-337
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural
Publication Status: epublish
Publication Status: epublish
Abstract
To characterize somatic alterations in colorectal carcinoma, we conducted a genome-scale analysis of 276 samples, analysing exome sequence, DNA copy number, promoter methylation and messenger RNA and microRNA expression. A subset of these samples (97) underwent low-depth-of-coverage whole-genome sequencing. In total, 16% of colorectal carcinomas were found to be hypermutated: three-quarters of these had the expected high microsatellite instability, usually with hypermethylation and MLH1 silencing, and one-quarter had somatic mismatch-repair gene and polymerase ε (POLE) mutations. Excluding the hypermutated cancers, colon and rectum cancers were found to have considerably similar patterns of genomic alteration. Twenty-four genes were significantly mutated, and in addition to the expected APC, TP53, SMAD4, PIK3CA and KRAS mutations, we found frequent mutations in ARID1A, SOX9 and FAM123B. Recurrent copy-number alterations include potentially drug-targetable amplifications of ERBB2 and newly discovered amplification of IGF2. Recurrent chromosomal translocations include the fusion of NAV2 and WNT pathway member TCF7L1. Integrative analyses suggest new markers for aggressive colorectal carcinoma and an important role for MYC-directed transcriptional activation and repression.
Keywords
Colonic Neoplasms/genetics, DNA Copy Number Variations, DNA Methylation, Exome/genetics, Gene Expression Profiling, Humans, Mutation/genetics, Mutation Rate, Polymorphism, Single Nucleotide, Rectal Neoplasms/genetics, Sequence Analysis, DNA
Pubmed
Web of science
Open Access
Yes
Create date
13/11/2018 11:11
Last modification date
21/08/2019 6:34
Usage data
