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Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.
Landi MT, Bishop DT, MacGregor S, Machiela MJ, Stratigos AJ, Ghiorzo P, Brossard M, Calista D, Choi J, Fargnoli MC, Zhang T, Rodolfo M, Trower AJ, Menin C, Martinez J, Hadjisavvas A, Song L, Stefanaki I, Scolyer R, Yang R, Goldstein AM, Potrony M, Kypreou KP, Pastorino L, Queirolo P, Pellegrini C, Cattaneo L, Zawistowski M, Gimenez-Xavier P, Rodriguez A, Elefanti L, Manoukian S, Rivoltini L, Smith BH, Loizidou MA, Del Regno L, Massi D, Mandala M, Khosrotehrani K, Akslen LA, Amos CI, Andresen PA, Avril MF, Azizi E, Soyer HP, Bataille V, Dalmasso B, Bowdler LM, Burdon KP, Chen WV, Codd V, Craig JE, Dębniak T, Falchi M, Fang S, Friedman E, Simi S, Galan P, Garcia-Casado Z, Gillanders EM, Gordon S, Green A, Gruis NA, Hansson J, Harland M, Harris J, Helsing P, Henders A, Hočevar M, Höiom V, Hunter D, Ingvar C, Kumar R, Lang J, Lathrop GM, Lee JE, Li X, Lubiński J, Mackie RM, Malt M, Malvehy J, McAloney K, Mohamdi H, Molven A, Moses EK, Neale RE, Novaković S, Nyholt DR, Olsson H, Orr N, Fritsche LG, Puig-Butille JA, Qureshi AA, Radford-Smith GL, Randerson-Moor J, Requena C, Rowe C, Samani NJ, Sanna M, Schadendorf D, Schulze HJ, Simms LA, Smithers M, Song F, Swerdlow AJ, van der S… See abstract for full author list ➔ Landi MT, et al. Among authors: pastorino l. Nat Genet. 2020 May;52(5):494-504. doi: 10.1038/s41588-020-0611-8. Epub 2020 Apr 27. Nat Genet. 2020. PMID: 32341527 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: pastorino l. Am J Med Genet. 2002 Jan 22;107(3):214-21. Am J Med Genet. 2002. PMID: 11807902
Novel MC1R variants in Ligurian melanoma patients and controls.
Pastorino L, Cusano R, Bruno W, Lantieri F, Origone P, Barile M, Gliori S, Shepherd GA, Sturm RA, Bianchi-Scarra G. Pastorino L, et al. Hum Mutat. 2004 Jul;24(1):103. doi: 10.1002/humu.9253. Hum Mutat. 2004. PMID: 15221796
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: pastorino l. 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
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. Among authors: pastorino l. Int J Cancer. 2007 Aug 15;121(4):825-31. doi: 10.1002/ijc.22712. Int J Cancer. 2007. PMID: 17397031 Free article.
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: pastorino l. Melanoma Res. 2009 Jun;19(3):142-5. doi: 10.1097/CMR.0b013e32832a1e18. Melanoma Res. 2009. PMID: 19339902
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. Among authors: pastorino l. 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
181 results