Comprehensive molecular characterization of human colon and rectal cancer
- Muzny, D.
- Bainbridge, M.
- Chang, K.
- Dinh, H.
- Drummond, J.
- Fowler, G.
- Kovar, C.
- Lewis, L.
- Morgan, M.
- Newsham, I.
- Reid, J.
- Santibanez, J.
- Shinbrot, E.
- Trevino, L.
- Wu, Y.
- Wang, M.
- Gunaratne, P.
- Donehower, L.
- Creighton, C.
- Wheeler, D.
- Gibbs, R.
- Lawrence, M.
- Voet, D.
- Jing, R.
- Cibulskis, K.
- Sivachenko, A.
- Stojanov, P.
- McKenna, A.
- Lander, E.
- Gabriel, S.
- Ding, L.
- Fulton, R.
- Koboldt, D.
- Wylie, T.
- Walker, J.
- Dooling, D.
- Fulton, L.
- Delehaunty, K.
- Fronick, C.
- Demeter, R.
- Mardis, E.
- Wilson, R.
- Chu, A.
- Chun, H.
- Mungall, A.
- Pleasance, E.
- Gordon Robertson, A.
- Stoll, D.
- Balasundaram, M.
- Birol, I.
- Butterfield, Y.
- Chuah, E.
- Coope, R.
- Dhalla, N.
- Guin, R.
- Hirst, C.
- Hirst, M.
- Holt, R.
- Lee, D.
- Li, H.
- Mayo, M.
- Moore, R.
- Schein, J.
- Slobodan, J.
- Tam, A.
- Thiessen, N.
- Varhol, Richard
- Zeng, T.
- Zhao, Y.
- Jones, S.
- Marra, M.
- Bass, A.
- Ramos, A.
- Saksena, G.
- Cherniack, A.
- Schumacher, S.
- Tabak, B.
- Carter, S.
- Pho, N.
- Nguyen, H.
- Onofrio, R.
- Crenshaw, A.
- Ardlie, K.
DOIAbstract
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 µ (POLE) mutations. Excluding the hypermutated cancers, colon and rectum cancers were found to have considerably similar patterns of genomic alteration. Twenty-four genes were signifi...
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