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149 results

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Page 1
Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family.
Brown KM, Xu M, Sargen M, Jang H, Zhang M, Zhang T, Zhu B, Jones K, Kim J, Mendoza L, Hayward NK, Tucker MA, Goldstein AM, Yang XR, Stewart DR, Hicks B, Consonni D, Pesatori AC, Fargnoli MC, Peris K, Stratigos A, Menin C, Ghiorzo P, Puig S, Nagore E; MelaNostrum Consortium; Andresson T, Nussinov R, Calista D, Landi MT. Brown KM, et al. Among authors: ghiorzo p. Fam Cancer. 2022 Jul;21(3):347-355. doi: 10.1007/s10689-021-00267-9. Epub 2021 Jul 3. Fam Cancer. 2022. PMID: 34215961 Free PMC article.
Mutation screening of the CDKN2A promoter in melanoma families.
Harland M, Holland EA, Ghiorzo P, Mantelli M, Bianchi-Scarrà G, Goldstein AM, Tucker MA, Ponder BA, Mann GJ, Bishop DT, Newton Bishop J. Harland M, et al. Among authors: ghiorzo p. Genes Chromosomes Cancer. 2000 May;28(1):45-57. Genes Chromosomes Cancer. 2000. PMID: 10738302
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressac-de Paillerets B, Chompret A, Ghiorzo P, Gruis N, Hansson J, Harland M, Hayward N, Holland EA, Mann GJ, Mantelli M, Nancarrow D, Platz A, Tucker MA; Melanoma Genetics Consortium. Bishop DT, et al. Among authors: ghiorzo p. J Natl Cancer Inst. 2002 Jun 19;94(12):894-903. doi: 10.1093/jnci/94.12.894. J Natl Cancer Inst. 2002. PMID: 12072543
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. 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
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. Among authors: ghiorzo p. 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. Among authors: ghiorzo p. 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. Among authors: ghiorzo p. Int J Cancer. 2007 Aug 15;121(4):825-31. doi: 10.1002/ijc.22712. Int J Cancer. 2007. PMID: 17397031 Free article.
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: ghiorzo p. 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.
Common sequence variants on 20q11.22 confer melanoma susceptibility.
Brown KM, Macgregor S, Montgomery GW, Craig DW, Zhao ZZ, Iyadurai K, Henders AK, Homer N, Campbell MJ, Stark M, Thomas S, Schmid H, Holland EA, Gillanders EM, Duffy DL, Maskiell JA, Jetann J, Ferguson M, Stephan DA, Cust AE, Whiteman D, Green A, Olsson H, Puig S, Ghiorzo P, Hansson J, Demenais F, Goldstein AM, Gruis NA, Elder DE, Bishop JN, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Martin NG, Trent JM, Mann GJ, Hayward NK. Brown KM, et al. Among authors: ghiorzo p. Nat Genet. 2008 Jul;40(7):838-40. doi: 10.1038/ng.163. Epub 2008 May 18. Nat Genet. 2008. PMID: 18488026 Free PMC article.
149 results