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Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk.
Di Lucca J, Guedj M, Lacapère JJ, Fargnoli MC, Bourillon A, Dieudé P, Dupin N, Wolkenstein P, Aegerter P, Saiag P, Descamps V, Lebbe C, Basset-Seguin N, Peris K, Grandchamp B, Soufir N. Di Lucca J, et al. Among authors: bourillon a. Eur J Cancer. 2009 Dec;45(18):3228-36. doi: 10.1016/j.ejca.2009.04.034. Epub 2009 May 26. Eur J Cancer. 2009. PMID: 19477635
Association between endothelin receptor B nonsynonymous variants and melanoma risk.
Soufir N, Meziani R, Lacapère JJ, Bertrand G, Fumeron F, Bourillon A, Gérard B, Descamps V, Crickx B, Ollivaud L, Archimbaud A, Lebbe C, Basset-Seguin N, Saiag P, Grandchamp B; Investigators of the Melan-Cohort. Soufir N, et al. Among authors: bourillon a. J Natl Cancer Inst. 2005 Sep 7;97(17):1297-301. doi: 10.1093/jnci/dji253. J Natl Cancer Inst. 2005. PMID: 16145050
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.
Guedj M, Bourillon A, Combadières C, Rodero M, Dieudé P, Descamps V, Dupin N, Wolkenstein P, Aegerter P, Lebbe C, Basset-Seguin N, Prum B, Saiag P, Grandchamp B, Soufir N; MelanCohort Investigators. Guedj M, et al. Among authors: bourillon a. Hum Mutat. 2008 Sep;29(9):1154-60. doi: 10.1002/humu.20823. Hum Mutat. 2008. PMID: 18683857
Genetic variation at KIT locus may predispose to melanoma.
Bourillon A, Hu HH, Hetet G, Lacapere JJ, André J, Descamps V, Basset-Seguin N, Ogbah Z, Puig S, Saiag P, Bagot M, Bensussan A, Grandchamp B, Dumaz N, Soufir N. Bourillon A, et al. Pigment Cell Melanoma Res. 2013 Jan;26(1):88-96. doi: 10.1111/pcmr.12032. Epub 2012 Nov 23. Pigment Cell Melanoma Res. 2013. PMID: 23020152
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C, Stary A, Armier J, Pham D, Khadir K, Roume J, Hadj-Rabia S, Bouadjar B, Taieb A, de Verneuil H, Benchiki H, Grandchamp B, Sarasin A. Soufir N, et al. Among authors: bourillon a. J Invest Dermatol. 2010 Jun;130(6):1537-42. doi: 10.1038/jid.2009.409. Epub 2010 Jan 7. J Invest Dermatol. 2010. PMID: 20054342 Free article.
32 results