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603 results

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Page 1
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.
Pastorino L, Andreotti V, Dalmasso B, Vanni I, Ciccarese G, Mandalà M, Spadola G, Pizzichetta MA, Ponti G, Tibiletti MG, Sala E, Genuardi M, Chiurazzi P, Maccanti G, Manoukian S, Sestini S, Danesi R, Zampiga V, La Starza R, Stanganelli I, Ballestrero A, Mastracci L, Grillo F, Sciallero S, Cecchi F, Tanda ET, Spagnolo F, Queirolo P, Italian Melanoma Intergroup (IMI), Goldstein AM, Bruno W, Ghiorzo P. Pastorino L, et al. Among authors: goldstein am. Cancers (Basel). 2020 Apr 19;12(4):1007. doi: 10.3390/cancers12041007. Cancers (Basel). 2020. PMID: 32325837 Free PMC article.
High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.
Mantelli M, Barile M, Ciotti P, Ghiorzo P, Lantieri F, Pastorino L, Catricalà C, Torre GD, Folco U, Grammatico P, Padovani L, Pasini B, Rovini D, Queirolo P, Rainero ML, Santi PL, Sertoli RM, Goldstein AM, Bianchi-Scarrà G; Società Italiana Dermatologia; Gruppo Italiano Studi Epidemiologici in Dermatologia. Mantelli M, et al. Among authors: goldstein am. Am J Med Genet. 2002 Jan 22;107(3):214-21. Am J Med Genet. 2002. PMID: 11807902
Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.
Ghiorzo P, Gargiulo S, Pastorino L, Nasti S, Cusano R, Bruno W, Gliori S, Sertoli MR, Burroni A, Savarino V, Gensini F, Sestini R, Queirolo P, Goldstein AM, Scarrà GB. Ghiorzo P, et al. Among authors: goldstein am. Hum Mol Genet. 2006 Sep 15;15(18):2682-9. doi: 10.1093/hmg/ddl199. Epub 2006 Aug 7. Hum Mol Genet. 2006. PMID: 16893909
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Goldstein AM, Chan M, Harland M, Gillanders EM, Hayward NK, Avril MF, Azizi E, Bianchi-Scarra G, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cannon Albright LA, Demenais F, Elder DE, Ghiorzo P, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, Mackie RM, Magnusson V, Mann GJ, Niendorf K, Newton Bishop J, Palmer JM, Puig S, Puig-Butille JA, de Snoo FA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E; Melanoma Genetics Consortium (GenoMEL). Goldstein AM, et al. Cancer Res. 2006 Oct 15;66(20):9818-28. doi: 10.1158/0008-5472.CAN-06-0494. Cancer Res. 2006. PMID: 17047042 Free article.
Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries.
Goldstein AM, Chaudru V, Ghiorzo P, Badenas C, Malvehy J, Pastorino L, Laud K, Hulley B, Avril MF, Puig-Butille JA, Miniere A, Marti R, Chompret A, Cuellar F, Kolm I, Mila M, Tucker MA, Demenais F, Bianchi-Scarra G, Puig S, de-Paillerets BB. Goldstein AM, et al. Int J Cancer. 2007 Aug 15;121(4):825-31. doi: 10.1002/ijc.22712. Int J Cancer. 2007. PMID: 17397031
Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family.
Yang XR, Brown K, Landi MT, Ghiorzo P, Badenas C, Xu M, Hayward NK, Calista D, Landi G, Bruno W, Bianchi-Scarrà G, Aguilera P, Puig S, Goldstein AM, Tucker MA. Yang XR, et al. Among authors: goldstein am. Pigment Cell Melanoma Res. 2012 Mar;25(2):243-7. doi: 10.1111/j.1755-148X.2012.00969.x. Epub 2012 Jan 23. Pigment Cell Melanoma Res. 2012. PMID: 22225770 Free PMC article.
Association of genetic variants in CDK6 and XRCC1 with the risk of dysplastic nevi in melanoma-prone families.
Liang X, Pfeiffer RM, Li WQ, Brossard M, Burke LS, Wheeler W, Calista D, Fargnoli MC, Ghiorzo P, Peris K, Bianchi-Scarra G, Chaudru V, Zelenika D, Maeder D, Burdette L, Yeager M, Chanock S, Landi MT, Demenais F, Tucker MA, Goldstein AM, Yang XR. Liang X, et al. Among authors: goldstein am. J Invest Dermatol. 2014 Feb;134(2):481-487. doi: 10.1038/jid.2013.316. Epub 2013 Jul 26. J Invest Dermatol. 2014. PMID: 23892592 Free PMC article.
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: goldstein am. 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.
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.
Yang XR, Rotunno M, Xiao Y, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Bennett H, Graham C, Sampson JN, Malasky M, Vogt A, Zhu B, Bianchi-Scarra G, Bruno W, Queirolo P, Fornarini G, Hansson J, Tuominen R, Burdett L, Hicks B, Hutchinson A, Jones K, Yeager M, Chanock SJ, Landi MT, Höiom V, Olsson H, Gruis N, Ghiorzo P, Tucker MA, Goldstein AM. Yang XR, et al. Among authors: goldstein am. Hum Genet. 2016 Nov;135(11):1241-1249. doi: 10.1007/s00439-016-1715-1. Epub 2016 Jul 23. Hum Genet. 2016. PMID: 27449771 Free PMC article.
603 results