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Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

2010 January 21 | Gillian L. Dalglish, Kyle Furge, Chris Greenman, Lina Chen, Graham Bignell, Adam Butler, Helen Davies, Sarah Edkins, Claire Hardy, Calli Latimer, Jon Teague, Jenny Andrews, Syd Barthorpe, Dave Beare, Gemma Buck, Peter J. Campbell, Simon Forbes, Mingming Jia, David Jones, Henry Knott, Chai Yin Kok, King Wai Lau, Catherine Leroy, Meng-Lay Lin, David J McBride, Mark Madison, Simon Maguire, Kirsten McLay, Andrew Menzies, Tatiana Mironenko, Lee Mulderigg, Laura Mudie, Sarah O'Meara, Erin Pleasance, Arjunan Rajasingham, Rebecca Shepherd, Raffaella Smith, Lucy Stebbings, Philip Stephens, Gurpreet Tang, Patrick S Tarpey, Kelly Turrell, Karl J. Dykema, Sok Kean Khoo, David Petillo, Bill Wondergem, John Anema, Richard J. Kahnoski, Bin Tean Teh, Michael R. Stratton, P. Andrew Futreal
The study sequenced 101 cases of clear cell renal cell carcinoma (ccRCC) through 3544 protein-coding genes to elucidate the genetics of this common form of kidney cancer. In addition to previously identified *VHL* mutations, the researchers identified inactivating mutations in *SETD2* and *JARID1C*, genes encoding histone modification enzymes. These findings highlight the role of chromatin modification machinery in ccRCC. The study also found *NF2* mutations in non-*VHL*-mutated ccRCC and identified several other potential cancer genes. The results suggest that ccRCC has substantial genetic heterogeneity and that systematic screens are crucial for fully understanding its somatic genetic architecture.The study sequenced 101 cases of clear cell renal cell carcinoma (ccRCC) through 3544 protein-coding genes to elucidate the genetics of this common form of kidney cancer. In addition to previously identified *VHL* mutations, the researchers identified inactivating mutations in *SETD2* and *JARID1C*, genes encoding histone modification enzymes. These findings highlight the role of chromatin modification machinery in ccRCC. The study also found *NF2* mutations in non-*VHL*-mutated ccRCC and identified several other potential cancer genes. The results suggest that ccRCC has substantial genetic heterogeneity and that systematic screens are crucial for fully understanding its somatic genetic architecture.
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