Please use this identifier to cite or link to this item: https://doi.org/10.1038/nature09639
Title: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma
Authors: Varela, I.
Tarpey, P.
Raine, K.
Huang, D.
Ong, C.K.
Stephens, P.
Davies, H.
Jones, D.
Lin, M.-L.
Teague, J.
Bignell, G.
Butler, A.
Cho, J.
Dalgliesh, G.L.
Galappaththige, D.
Greenman, C.
Hardy, C.
Jia, M.
Latimer, C.
Lau, K.W.
Marshall, J.
McLaren, S.
Menzies, A.
Mudie, L.
Stebbings, L.
Largaespada, D.A.
Wessels, L.F.A.
Richard, S.
Kahnoski, R.J.
Anema, J.
A.tuveson, D.
Perez-Mancera, P.A.
Mustonen, V.
Fischer, A.
Adams, D.J.
Rust, A.
Chan-On, W.
Subimerb, C.
Dykema, K.
Furge, K.
Campbell, P.J.
Teh, B.T. 
Stratton, M.R.
Futreal, P.A.
Issue Date: 27-Jan-2011
Citation: Varela, I., Tarpey, P., Raine, K., Huang, D., Ong, C.K., Stephens, P., Davies, H., Jones, D., Lin, M.-L., Teague, J., Bignell, G., Butler, A., Cho, J., Dalgliesh, G.L., Galappaththige, D., Greenman, C., Hardy, C., Jia, M., Latimer, C., Lau, K.W., Marshall, J., McLaren, S., Menzies, A., Mudie, L., Stebbings, L., Largaespada, D.A., Wessels, L.F.A., Richard, S., Kahnoski, R.J., Anema, J., A.tuveson, D., Perez-Mancera, P.A., Mustonen, V., Fischer, A., Adams, D.J., Rust, A., Chan-On, W., Subimerb, C., Dykema, K., Furge, K., Campbell, P.J., Teh, B.T., Stratton, M.R., Futreal, P.A. (2011-01-27). Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature 469 (7331) : 539-542. ScholarBank@NUS Repository. https://doi.org/10.1038/nature09639
Abstract: The genetics of renal cancer is dominated by inactivation of the VHL tumour suppressor gene in clear cell carcinoma (ccRCC), the commonest histological subtype. A recent large-scale screen of ∼3,300 genes by PCR-based exon re-sequencing identified several new cancer genes in ccRCC including UTX (also known as KDM6A), JARID1C (also known as KDM5C) and SETD2 (ref. 2). These genes encode enzymes that demethylate (UTX, JARID1C) or methylate (SETD2) key lysine residues of histone H3. Modification of the methylation state of these lysine residues of histone H3 regulates chromatin structure and is implicated in transcriptional control. However, together these mutations are present in fewer than 15% of ccRCC, suggesting the existence of additional, currently unidentified cancer genes. Here, we have sequenced the protein coding exome in a series of primary ccRCC and report the identification of the SWI/SNF chromatin remodelling complex gene PBRM1 (ref. 4) as a second major ccRCC cancer gene, with truncating mutations in 41% (92/227) of cases. These data further elucidate the somatic genetic architecture of ccRCC and emphasize the marked contribution of aberrant chromatin biology. © 2011 Macmillan Publishers Limited. All rights reserved.
Source Title: Nature
URI: http://scholarbank.nus.edu.sg/handle/10635/126489
ISSN: 00280836
DOI: 10.1038/nature09639
Appears in Collections:Staff Publications

Show full item record
Files in This Item:
There are no files associated with this item.

SCOPUSTM   
Citations

788
checked on Jul 21, 2019

WEB OF SCIENCETM
Citations

726
checked on Jul 12, 2019

Page view(s)

34
checked on Jul 19, 2019

Google ScholarTM

Check

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.