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Page 1
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: scarra gb. 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
Genetics of melanoma susceptibility.
Ghiorzo P, Scarrà GB. Ghiorzo P, et al. Among authors: scarra gb. Forum (Genova). 2003;13(2):114-22; quiz 187. Forum (Genova). 2003. PMID: 14732879 Review.
CDKN2A and MC1R analysis in amelanotic and pigmented melanoma.
Ghiorzo P, Pastorino L, Pizzichetta MA, Bono R, Queirolo P, Talamini R, Annessi G, Bruno W, Nasti S, Gargiulo S, Battistuzzi L, Sini MC, Palmieri G, Scarrà GB; Italian Melanoma Intergroup. Ghiorzo P, et al. Among authors: scarra gb. Melanoma Res. 2009 Jun;19(3):142-5. doi: 10.1097/CMR.0b013e32832a1e18. Melanoma Res. 2009. PMID: 19339902
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families.
Ghiorzo P, Fornarini G, Sciallero S, Battistuzzi L, Belli F, Bernard L, Bonelli L, Borgonovo G, Bruno W, De Cian F, Decensi A, Filauro M, Faravelli F, Gozza A, Gargiulo S, Mariette F, Nasti S, Pastorino L, Queirolo P, Savarino V, Varesco L, Scarrà GB; Genoa Pancreatic Cancer Study Group. Ghiorzo P, et al. Among authors: scarra gb. J Med Genet. 2012 Mar;49(3):164-70. doi: 10.1136/jmedgenet-2011-100281. J Med Genet. 2012. PMID: 22368299
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: scarra gb. 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.
Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.
Pastorino L, Cusano R, Baldo C, Forzano F, Nasti S, Di Rocco M, Carta M, Bricarelli FD, Faravelli F, Scarrà GB. Pastorino L, et al. Among authors: scarra gb. Child Care Health Dev. 2005 May;31(3):351-4. doi: 10.1111/j.1365-2214.2005.00514.x. Child Care Health Dev. 2005. PMID: 15840155
A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).
Harland M, Goldstein AM, Kukalizch K, Taylor C, Hogg D, Puig S, Badenas C, Gruis N, ter Huurne J, Bergman W, Hayward NK, Stark M, Tsao H, Tucker MA, Landi MT, Scarra GB, Ghiorzo P, Kanetsky PA, Elder D, Mann GJ, Holland EA, Bishop DT, Bishop JN; GenoMEL, the Melanoma Genetics Consortium. Harland M, et al. Among authors: scarra gb. Eur J Cancer. 2008 Jun;44(9):1269-74. doi: 10.1016/j.ejca.2008.03.005. Epub 2008 Apr 3. Eur J Cancer. 2008. PMID: 18394881 Free PMC article.
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.
Law MH, Bishop DT, Lee JE, Brossard M, Martin NG, Moses EK, Song F, Barrett JH, Kumar R, Easton DF, Pharoah PDP, Swerdlow AJ, Kypreou KP, Taylor JC, Harland M, Randerson-Moor J, Akslen LA, Andresen PA, Avril MF, Azizi E, Scarrà GB, Brown KM, Dębniak T, Duffy DL, Elder DE, Fang S, Friedman E, Galan P, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Helsing P, Hočevar M, Höiom V, Ingvar C, Kanetsky PA, Chen WV; GenoMEL Consortium; Essen-Heidelberg Investigators; SDH Study Group; Q-MEGA and QTWIN Investigators; AMFS Investigators; ATHENS Melanoma Study Group; Landi MT, Lang J, Lathrop GM, Lubiński J, Mackie RM, Mann GJ, Molven A, Montgomery GW, Novaković S, Olsson H, Puig S, Puig-Butille JA, Qureshi AA, Radford-Smith GL, van der Stoep N, van Doorn R, Whiteman DC, Craig JE, Schadendorf D, Simms LA, Burdon KP, Nyholt DR, Pooley KA, Orr N, Stratigos AJ, Cust AE, Ward SV, Hayward NK, Han J, Schulze HJ, Dunning AM, Bishop JAN, Demenais F, Amos CI, MacGregor S, Iles MM. Law MH, et al. Among authors: scarra gb. Nat Genet. 2015 Sep;47(9):987-995. doi: 10.1038/ng.3373. Epub 2015 Aug 3. Nat Genet. 2015. PMID: 26237428 Free PMC article.
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