Integrated genomic characterization of endometrial carcinoma.
Details
Serval ID
serval:BIB_3261EC88BD7B
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Integrated genomic characterization of endometrial carcinoma.
Journal
Nature
Working group(s)
Cancer Genome Atlas Research Network
Contributor(s)
Getz G., Gabriel S.B., Cibulskis K., Lander E., Sivachenko A., Sougnez C., Lawrence M., Kandoth C., Dooling D., Fulton R., Fulton L., Kalicki-Veizer J., McLellan M.D., O'Laughlin M., Schmidt H., Wilson R.K., Ye K., Ding L., Mardis E.R., Ally A., Balasundaram M., Birol I., Butterfield Y.S., Carlsen R., Carter C., Chu A., Chuah E., Chuah H.J., Dhalla N., Guin R., Hirst C., Holt R.A., Jones S.J., Lee D., Li H.I., Marra M.A., Mayo M., Moore R.A., Mungall A.J., Plettner P., Schein J.E., Sipahimalani P., Tam A., Varhol R.J., Robertson A., Cherniack A.D., Pashtan I., Saksena G., Onofrio R.C., Schumacher S.E., Tabak B., Carter S.L., Hernandez B., Gentry J., Salvesen H.B., Ardlie K., Getz G., Winckler W., Beroukhim R., Gabriel S.B., Meyerson M., Hadjipanayis A., Lee S., Mahadeshwar H.S., Park P., Protopopov A., Ren X., Seth S., Song X., Tang J., Xi R., Yang L., Zeng D., Kucherlapati R., Chin L., Zhang J., Auman T., Balu S., Bodenheimer T., Buda E., Hayes D., Hoyle A.P., Jefferys S.R., Jones C.D., Meng S., Mieczkowski P.A., Mose L.E., Parker J.S., Perou C.M., Roach J., Shi Y., Simons J.V., Soloway M.G., Tan D., Topal M.D., Waring S., Wu J., Hoadley K.A., Baylin S.B., Bootwalla M.S., Lai P.H., Triche T.J., Van Den Berg D.J., Weisenberger D.J., Laird P.W., Shen H., Chin L., Zhang J., Getz G., Cho J., DiCara D., Frazer S., Heiman D., Jing R., Lin P., Mallard W., Stojanov P., Voet D., Zhang H., Zou L., Noble M., Lawrence M., Reynolds S.M., Shmulevich I., Aksoy B., Antipin Y., Ciriello G., Dresdner G., Gao J., Gross B., Jacobsen A., Ladanyi M., Reva B., Sander C., Sinha R., Sumer S., Taylor B.S., Cerami E., Weinhold N., Schultz N., Shen R., Benz S., Goldstein T., Haussler D., Ng S., Szeto C., Stuart J., Benz C.C., Yau C., Zhang W., Annala M., Broom B.M., Casasent T.D., Ju Z., Liang H., Liu G., Lu Y., Unruh A.K., Wakefield C., Weinstein J.N., Zhang N., Liu Y., Broaddus R., Akbani R., Mills G.B., Adams C., Barr T., Black A.D., Bowen J., Deardurff J., Frick J., Gastier-Foster J.M., Grossman T., Harper H.A., Hart-Kothari M., Helsel C., Hobensack A., Kuck H., Kneile K., Leraas K.M., Lichtenberg T.M., McAllister C., Pyatt R.E., Ramirez N.C., Tabler T.R., Vanhoose N., White P., Wise L., Zmuda E., Barnabas N., Berry-Green C., Blanc V., Boice L., Button M., Farkas A., Green A., MacKenzie J., Nicholson D., Kalloger S.E., Gilks C.B., Karlan B.Y., Lester J., Orsulic S., Borowsky M., Cadungog M., Czerwinski C., Huelsenbeck-Dill L., Iacocca M., Petrelli N., Rabeno B., Witkin G., Nemirovich-Danchenko E., Potapova O., Rotin D., Berchuck A., Birrer M., DiSaia P., Monovich L., Curley E., Gardner J., Mallery D., Penny R., Dowdy S.C., Winterhoff B., Dao L., Gostout B., Meuter A., Teoman A., Dao F., Olvera N., Bogomolniy F., Garg K., Soslow R.A., Levine D.A., Abramov M., Bartlett J.M., Kodeeswaran S., Parfitt J., Moiseenko F., Clarke B.A., Goodman M.T., Carney M.E., Matsuno R.K., Fisher J., Huang M., Rathmell W., Thorne L., Van Le L., Dhir R., Edwards R., Elishaev E., Zorn K., Broaddus R., Goodfellow P.J., Mutch D., Schultz N., Liu Y., Akbani R., Cherniack A.D., Cerami E., Weinhold N., Shen H., Hoadley K.A., Kahn A.B., Bell D.W., Pollock P.M., Wang C., Wheeler D.A., Shinbrot E., Karlan B.Y., Berchuck A., Dowdy S.C., Winterhoff B., Goodman M.T., Robertson A., Beroukhim R., Pashtan I., Salvesen H.B., Laird P.W., Noble M., Stuart J., Ding L., Kandoth C., Gilks C., Soslow R.A., Goodfellow P.J., Mutch D., Broaddus R., Zhang W., Mills G.B., Kucherlapati R., Mardis E.R., Levine D.A., Ayala B., Chu A.L., Jensen M.A., Kothiyal P., Pihl T.D., Pontius J., Pot D.A., Snyder E.E., Srinivasan D., Kahn A.B., Shaw K.R., Sheth M., Davidsen T., Eley G., Ferguson M.L., Demchok J.A., Yang L., Guyer M.S., Ozenberger B.A., Sofia H.J.
ISSN
1476-4687 (Electronic)
ISSN-L
0028-0836
Publication state
Published
Issued date
02/05/2013
Peer-reviewed
Oui
Volume
497
Number
7447
Pages
67-73
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural
Publication Status: ppublish
Publication Status: ppublish
Abstract
We performed an integrated genomic, transcriptomic and proteomic characterization of 373 endometrial carcinomas using array- and sequencing-based technologies. Uterine serous tumours and ∼25% of high-grade endometrioid tumours had extensive copy number alterations, few DNA methylation changes, low oestrogen receptor/progesterone receptor levels, and frequent TP53 mutations. Most endometrioid tumours had few copy number alterations or TP53 mutations, but frequent mutations in PTEN, CTNNB1, PIK3CA, ARID1A and KRAS and novel mutations in the SWI/SNF chromatin remodelling complex gene ARID5B. A subset of endometrioid tumours that we identified had a markedly increased transversion mutation frequency and newly identified hotspot mutations in POLE. Our results classified endometrial cancers into four categories: POLE ultramutated, microsatellite instability hypermutated, copy-number low, and copy-number high. Uterine serous carcinomas share genomic features with ovarian serous and basal-like breast carcinomas. We demonstrated that the genomic features of endometrial carcinomas permit a reclassification that may affect post-surgical adjuvant treatment for women with aggressive tumours.
Keywords
Breast Neoplasms/genetics, Chromosome Aberrations, DNA Copy Number Variations/genetics, DNA Mutational Analysis, DNA Polymerase II/genetics, DNA-Binding Proteins/genetics, Endometrial Neoplasms/classification, Endometrial Neoplasms/genetics, Exome/genetics, Female, Gene Expression Regulation, Neoplastic, Genome, Human/genetics, Genomics, Humans, Ovarian Neoplasms/genetics, Poly-ADP-Ribose Binding Proteins, Signal Transduction, Transcription Factors/genetics
Pubmed
Web of science
Open Access
Yes
Create date
06/07/2018 12:02
Last modification date
20/08/2019 14:18
Usage data
