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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. Am J Med Genet. 2002 Jan 22;107(3):214-21. Am J Med Genet. 2002. PMID: 11807902
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
Goldstein AM, Chan M, Harland M, Hayward NK, Demenais F, Bishop DT, Azizi E, Bergman W, Bianchi-Scarra G, Bruno W, Calista D, Albright LA, Chaudru V, Chompret A, Cuellar F, Elder DE, Ghiorzo P, Gillanders EM, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, MacKie RM, Magnusson V, Mann GJ, Bishop JN, Palmer JM, Puig S, Puig-Butille JA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E; Lund Melanoma Study Group; Melanoma Genetics Consortium (GenoMEL). Goldstein AM, et al. J Med Genet. 2007 Feb;44(2):99-106. doi: 10.1136/jmg.2006.043802. Epub 2006 Aug 11. J Med Genet. 2007. PMID: 16905682 Free PMC article.
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.
CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.
Scaini MC, Minervini G, Elefanti L, Ghiorzo P, Pastorino L, Tognazzo S, Agata S, Quaggio M, Zullato D, Bianchi-Scarrà G, Montagna M, D'Andrea E, Menin C, Tosatto SC. Scaini MC, et al. Among authors: bianchi scarra g. Hum Mutat. 2014 Jul;35(7):828-40. doi: 10.1002/humu.22550. Epub 2014 May 21. Hum Mutat. 2014. PMID: 24659262
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: bianchi scarra g. 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.
Clinical genetic testing for familial melanoma in Italy: a cooperative study.
Bruno W, Ghiorzo P, Battistuzzi L, Ascierto PA, Barile M, Gargiulo S, Gensini F, Gliori S, Guida M, Lombardo M, Manoukian S, Menin C, Nasti S, Origone P, Pasini B, Pastorino L, Peissel B, Pizzichetta MA, Queirolo P, Rodolfo M, Romanini A, Scaini MC, Testori A, Tibiletti MG, Turchetti D, Leachman SA, Bianchi Scarrà G; IMI, Italian Melanoma Intergroup. Bruno W, et al. J Am Acad Dermatol. 2009 Nov;61(5):775-82. doi: 10.1016/j.jaad.2009.03.039. Epub 2009 Jun 4. J Am Acad Dermatol. 2009. PMID: 19500876
92 results