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Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.
Shi J, Yang XR, Ballew B, Rotunno M, Calista D, Fargnoli MC, Ghiorzo P, Bressac-de Paillerets B, Nagore E, Avril MF, Caporaso NE, McMaster ML, Cullen M, Wang Z, Zhang X; NCI DCEG Cancer Sequencing Working Group; NCI DCEG Cancer Genomics Research Laboratory; French Familial Melanoma Study Group; Bruno W, Pastorino L, Queirolo P, Banuls-Roca J, Garcia-Casado Z, Vaysse A, Mohamdi H, Riazalhosseini Y, Foglio M, Jouenne F, Hua X, Hyland PL, Yin J, Vallabhaneni H, Chai W, Minghetti P, Pellegrini C, Ravichandran S, Eggermont A, Lathrop M, Peris K, Scarra GB, Landi G, Savage SA, Sampson JN, He J, Yeager M, Goldin LR, Demenais F, Chanock SJ, Tucker MA, Goldstein AM, Liu Y, Landi MT. Shi J, et al. Among authors: avril mf. Nat Genet. 2014 May;46(5):482-6. doi: 10.1038/ng.2941. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686846 Free PMC article.
CDKN2A as a uveal and cutaneous melanoma susceptibility gene.
Kannengiesser C, Avril MF, Spatz A, Laud K, Lenoir GM, Bressac-de-Paillerets B. Kannengiesser C, et al. Among authors: avril mf. Genes Chromosomes Cancer. 2003 Nov;38(3):265-8. doi: 10.1002/gcc.10286. Genes Chromosomes Cancer. 2003. PMID: 14506702
BRAF as a melanoma susceptibility candidate gene?
Laud K, Kannengiesser C, Avril MF, Chompret A, Stoppa-Lyonnet D, Desjardins L, Eychene A, Demenais F, Lenoir GM, Bressac-de Paillerets B; French Herediatary Melanoma Study Group. Laud K, et al. Among authors: avril mf. Cancer Res. 2003 Jun 15;63(12):3061-5. Cancer Res. 2003. PMID: 12810628
Characteristics of the coexistence of melanoma and renal cell carcinoma.
Maubec E, Chaudru V, Mohamdi H, Grange F, Patard JJ, Dalle S, Crickx B, Paillerets BB, Demenais F, Avril MF. Maubec E, et al. Among authors: avril mf. Cancer. 2010 Dec 15;116(24):5716-24. doi: 10.1002/cncr.25562. Cancer. 2010. PMID: 21218461 Free article.
Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.
Maubec E, Chaudru V, Mohamdi H, Blondel C, Margaritte-Jeannin P, Forget S, Corda E, Boitier F, Dalle S, Vabres P, Perrot JL, Lyonnet DS, Zattara H, Mansard S, Grange F, Leccia MT, Vincent-Fetita L, Martin L, Crickx B, Joly P, Thomas L; French Familial Melanoma Study Group; Bressac-de Paillerets B, Avril MF, Demenais F. Maubec E, et al. Among authors: avril mf. J Am Acad Dermatol. 2012 Dec;67(6):1257-64. doi: 10.1016/j.jaad.2012.05.014. Epub 2012 Jul 26. J Am Acad Dermatol. 2012. PMID: 22841127
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.
Jouenne F, Chauvot de Beauchene I, Bollaert E, Avril MF, Caron O, Ingster O, Lecesne A, Benusiglio P, Terrier P, Caumette V, Pissaloux D, de la Fouchardière A, Cabaret O, N'Diaye B, Velghe A, Bougeard G, Mann GJ, Koscielny S, Barrett JH, Harland M, Newton-Bishop J, Gruis N, Van Doorn R, Gauthier-Villars M, Pierron G, Stoppa-Lyonnet D, Coupier I, Guimbaud R, Delnatte C, Scoazec JY, Eggermont AM, Feunteun J, Tchertanov L, Demoulin JB, Frebourg T, Bressac-de Paillerets B. Jouenne F, et al. Among authors: avril mf. J Med Genet. 2017 Sep;54(9):607-612. doi: 10.1136/jmedgenet-2016-104402. Epub 2017 Jun 7. J Med Genet. 2017. PMID: 28592523 Free article.
393 results