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Page 1
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Dalmasso B, Pastorino L, Nathan V, Shah NN, Palmer JM, Howlie M, Johansson PA, Freedman ND, Carter BD, Beane-Freeman L, Hicks B, Molven A, Helgadottir H, Sankar A, Tsao H, Stratigos AJ, Helsing P, Van Doorn R, Gruis NA, Visser M, Wadt KAW, Mann G, Holland EA, Nagore E, Potrony M, Puig S, Menin C, Peris K, Fargnoli MC, Calista D, Soufir N, Harland M, Bishop T, Kanetsky PA, Elder DE, Andreotti V, Vanni I, Bruno W, Höiom V, Tucker MA, Yang XR, Andresen PA, Adams DJ, Landi MT, Hayward NK, Goldstein AM, Ghiorzo P; GenoMEL; MelaNostrum consortia. Dalmasso B, et al. Among authors: soufir n. Genet Med. 2021 Nov;23(11):2087-2095. doi: 10.1038/s41436-021-01240-8. Epub 2021 Jul 14. Genet Med. 2021. PMID: 34262154 Free PMC article.
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.
Puntervoll HE, Yang XR, Vetti HH, Bachmann IM, Avril MF, Benfodda M, Catricalà C, Dalle S, Duval-Modeste AB, Ghiorzo P, Grammatico P, Harland M, Hayward NK, Hu HH, Jouary T, Martin-Denavit T, Ozola A, Palmer JM, Pastorino L, Pjanova D, Soufir N, Steine SJ, Stratigos AJ, Thomas L, Tinat J, Tsao H, Veinalde R, Tucker MA, Bressac-de Paillerets B, Newton-Bishop JA, Goldstein AM, Akslen LA, Molven A. Puntervoll HE, et al. Among authors: soufir n. J Med Genet. 2013 Apr;50(4):264-70. doi: 10.1136/jmedgenet-2012-101455. Epub 2013 Feb 5. J Med Genet. 2013. PMID: 23384855 Free PMC article.
Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study.
Davies JR, Randerson-Moor J, Kukalizch K, Harland M, Kumar R, Madhusudan S, Nagore E, Hansson J, Höiom V, Ghiorzo P, Gruis NA, Kanetsky PA, Wendt J, Pjanova D, Puig S, Saiag P, Schadendorf D, Soufir N, Okamoto I, Affleck P, García-Casado Z, Ogbah Z, Ozola A, Queirolo P, Sucker A, Barrett JH, van Doorn R, Bishop DT, Newton-Bishop J. Davies JR, et al. Among authors: soufir n. Pigment Cell Melanoma Res. 2012 May;25(3):384-94. doi: 10.1111/j.1755-148X.2012.00982.x. Epub 2012 Mar 16. Pigment Cell Melanoma Res. 2012. PMID: 22325793 Free PMC article.
EDNRB gene variants and melanoma risk in two southern European populations.
Spica T, Fargnoli MC, Hetet G, Bertrand G, Formicone F, Descamps V, Wolkenstein P, Dupin N, Lebbe C, Basset-Seguin N, Saiag P, Cambien F, Grandchamp B, Peris K, Soufir N. Spica T, et al. Among authors: soufir n. Clin Exp Dermatol. 2011 Oct;36(7):782-7. doi: 10.1111/j.1365-2230.2011.04062.x. Epub 2011 Apr 20. Clin Exp Dermatol. 2011. PMID: 21507037
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. Among authors: soufir n. 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
MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis.
Ibarrola-Villava M, Hu HH, Guedj M, Fernandez LP, Descamps V, Basset-Seguin N, Bagot M, Benssussan A, Saiag P, Fargnoli MC, Peris K, Aviles JA, Lluch A, Ribas G, Soufir N. Ibarrola-Villava M, et al. Among authors: soufir n. Eur J Cancer. 2012 Sep;48(14):2183-91. doi: 10.1016/j.ejca.2012.03.006. Epub 2012 Mar 28. Eur J Cancer. 2012. PMID: 22464347
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: soufir n. 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
Germline BAP1 mutations predispose to renal cell carcinomas.
Popova T, Hebert L, Jacquemin V, Gad S, Caux-Moncoutier V, Dubois-d'Enghien C, Richaudeau B, Renaudin X, Sellers J, Nicolas A, Sastre-Garau X, Desjardins L, Gyapay G, Raynal V, Sinilnikova OM, Andrieu N, Manié E, de Pauw A, Gesta P, Bonadona V, Maugard CM, Penet C, Avril MF, Barillot E, Cabaret O, Delattre O, Richard S, Caron O, Benfodda M, Hu HH, Soufir N, Bressac-de Paillerets B, Stoppa-Lyonnet D, Stern MH. Popova T, et al. Among authors: soufir n. Am J Hum Genet. 2013 Jun 6;92(6):974-80. doi: 10.1016/j.ajhg.2013.04.012. Epub 2013 May 16. Am J Hum Genet. 2013. PMID: 23684012 Free PMC article.
Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition.
Ibarrola-Villava M, Kumar R, Nagore E, Benfodda M, Guedj M, Gazal S, Hu HH, Guan J, Rachkonda PS, Descamps V, Basset-Seguin N, Bensussan A, Bagot M, Saiag P, Schadendorf D, Martin-Gonzalez M, Mayor M, Grandchamp B, Ribas G, Soufir N. Ibarrola-Villava M, et al. Among authors: soufir n. Int J Cancer. 2015 May 1;136(9):2109-19. doi: 10.1002/ijc.29257. Epub 2014 Oct 24. Int J Cancer. 2015. PMID: 25303718 Free article.
80 results