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Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, Davies H, Jones D, Lin ML, Teague J, Bignell G, Butler A, Cho J, Dalgliesh GL, Galappaththige D, Greenman C, Hardy C, Jia M, Latimer C, Lau KW, Marshall J, McLaren S, Menzies A, Mudie L, Stebbings L, Largaespada DA, Wessels LF, Richard S, Kahnoski RJ, Anema J, Tuveson DA, Perez-Mancera PA, Mustonen V, Fischer A, Adams DJ, Rust A, Chan-on W, Subimerb C, Dykema K, Furge K, Campbell PJ, Teh BT, Stratton MR, Futreal PA. Varela I, et al. Among authors: richard s. Nature. 2011 Jan 27;469(7331):539-42. doi: 10.1038/nature09639. Epub 2011 Jan 19. Nature. 2011. PMID: 21248752 Free PMC article.
Inactivation of BHD in sporadic renal tumors.
Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjöld M, Teh BT. Khoo SK, et al. Among authors: richard s. Cancer Res. 2003 Aug 1;63(15):4583-7. Cancer Res. 2003. PMID: 12907635
Somatic pairing of chromosome 19 in renal oncocytoma is associated with deregulated EGLN2-mediated [corrected] oxygen-sensing response.
Koeman JM, Russell RC, Tan MH, Petillo D, Westphal M, Koelzer K, Metcalf JL, Zhang Z, Matsuda D, Dykema KJ, Houseman HL, Kort EJ, Furge LL, Kahnoski RJ, Richard S, Vieillefond A, Swiatek PJ, Teh BT, Ohh M, Furge KA. Koeman JM, et al. Among authors: richard s. PLoS Genet. 2008 Sep 5;4(9):e1000176. doi: 10.1371/journal.pgen.1000176. PLoS Genet. 2008. PMID: 18773095 Free PMC article.
Genomic expression and single-nucleotide polymorphism profiling discriminates chromophobe renal cell carcinoma and oncocytoma.
Tan MH, Wong CF, Tan HL, Yang XJ, Ditlev J, Matsuda D, Khoo SK, Sugimura J, Fujioka T, Furge KA, Kort E, Giraud S, Ferlicot S, Vielh P, Amsellem-Ouazana D, Debré B, Flam T, Thiounn N, Zerbib M, Benoît G, Droupy S, Molinié V, Vieillefond A, Tan PH, Richard S, Teh BT. Tan MH, et al. Among authors: richard s. BMC Cancer. 2010 May 12;10:196. doi: 10.1186/1471-2407-10-196. BMC Cancer. 2010. PMID: 20462447 Free PMC article.
Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression.
Klomp JA, Petillo D, Niemi NM, Dykema KJ, Chen J, Yang XJ, Sääf A, Zickert P, Aly M, Bergerheim U, Nordenskjöld M, Gad S, Giraud S, Denoux Y, Yonneau L, Méjean A, Vasiliu V, Richard S, MacKeigan JP, Teh BT, Furge KA. Klomp JA, et al. Among authors: richard s. BMC Med Genomics. 2010 Dec 16;3:59. doi: 10.1186/1755-8794-3-59. BMC Med Genomics. 2010. PMID: 21162720 Free PMC article.
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P; French Familial Melanoma Study Group; Aubin F, Bachollet B, Becuwe C, Berthet P, Bignon YJ, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d'Incan M, Dugast C, Faivre L, Vincent-Fétita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Matéus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B. Bertolotto C, et al. Among authors: richard s. Nature. 2011 Oct 19;480(7375):94-8. doi: 10.1038/nature10539. Nature. 2011. PMID: 22012259
A germline mutation in PBRM1 predisposes to renal cell carcinoma.
Benusiglio PR, Couvé S, Gilbert-Dussardier B, Deveaux S, Le Jeune H, Da Costa M, Fromont G, Memeteau F, Yacoub M, Coupier I, Leroux D, Méjean A, Escudier B, Giraud S, Gimenez-Roqueplo AP, Blondel C, Frouin E, Teh BT, Ferlicot S, Bressac-de Paillerets B, Richard S, Gad S. Benusiglio PR, et al. Among authors: richard s. J Med Genet. 2015 Jun;52(6):426-30. doi: 10.1136/jmedgenet-2014-102912. Epub 2015 Apr 24. J Med Genet. 2015. PMID: 25911086
1,460 results