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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: fargnoli mc. 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.
Heterogeneity of BRAF, NRAS, and TERT Promoter Mutational Status in Multiple Melanomas and Association with MC1R Genotype: Findings from Molecular and Immunohistochemical Analysis.
Pellegrini C, Di Nardo L, Cipolloni G, Martorelli C, De Padova M, Antonini A, Maturo MG, Del Regno L, Strafella S, Micantonio T, Leocata P, Peris K, Fargnoli MC. Pellegrini C, et al. Among authors: fargnoli mc. J Mol Diagn. 2018 Jan;20(1):110-122. doi: 10.1016/j.jmoldx.2017.10.002. Epub 2017 Oct 20. J Mol Diagn. 2018. PMID: 29061376 Free article.
298 results