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Volumn 121, Issue 4, 2007, Pages 825-831

Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries

(21)  Goldstein, Alisa M a   Chaudru, Valerie b   Ghiorzo, Paola c   Badenas, Celia d   Malvehy, Josep d   Pastorino, Lorenza c   Laud, Karine e   Hulley, Benjamin a   Avril, Marie Francoise f   Puig Butille, Joan A d   Miniere, Annie e   Marti, Rosa g   Chompret, Agnes e   Cuellar, Francisco d   Kolm, Isabel d   Mila, Montserrat d   Tucker, Margaret A a   Demenais, Florence b   Bianchi Scarra, Giovanna c   Puig, Susana d   more..


Author keywords

CDKN2A; G101W; MC1R; Melanoma

Indexed keywords

ARTICLE; CDKN2A GENE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; EVALUATION; EYE COLOR; FEMALE; FOUNDER EFFECT; FRANCE; G101W GENE; GENE MUTATION; GENETIC COUNSELING; GENETIC VARIABILITY; GEOGRAPHIC ORIGIN; GERM LINE GENE THERAPY; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MC1R GENE; MELANOMA; MULTICENTER STUDY; MUTATOR GENE; NEVUS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SPAIN; UNITED STATES;

EID: 34547101440     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.22712     Document Type: Article
Times cited : (42)

References (36)
  • 1
    • 0038795172 scopus 로고    scopus 로고
    • Genetics of melanoma predisposition
    • Hayward NK. Genetics of melanoma predisposition. Oncogene 2003;22:3053-62.
    • (2003) Oncogene , vol.22 , pp. 3053-3062
    • Hayward, N.K.1
  • 6
    • 26444597589 scopus 로고    scopus 로고
    • Demenais Fandthe French Familial Melanoma Study Group. Melanocortin-1 (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees
    • Chaudru V, Laud K, Avril M-F, Miniere A, Chompret A, Bressac-de Paillerets B, Demenais Fandthe French Familial Melanoma Study Group. Melanocortin-1 (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees. Cancer Epidemiol Biomarkers Prev 2005;14:2384-90.
    • (2005) Cancer Epidemiol Biomarkers Prev , vol.14 , pp. 2384-2390
    • Chaudru, V.1    Laud, K.2    Avril, M.-F.3    Miniere, A.4    Chompret, A.5    Bressac-de Paillerets, B.6
  • 9
    • 0028039027 scopus 로고
    • CDK6 (PLSTIRE) and CDK4 (PSK-J3) are a distinct subset of the cyclin-dependent kinases that associate with cyclin D1
    • Bates S, Bonetta L, Macallan D, Parry D, Holder A, Dickson C, Peters G. CDK6 (PLSTIRE) and CDK4 (PSK-J3) are a distinct subset of the cyclin-dependent kinases that associate with cyclin D1. Oncogene 1994;9:71-9.
    • (1994) Oncogene , vol.9 , pp. 71-79
    • Bates, S.1    Bonetta, L.2    Macallan, D.3    Parry, D.4    Holder, A.5    Dickson, C.6    Peters, G.7
  • 10
    • 0034650542 scopus 로고    scopus 로고
    • Effects of cyclin D1 polymorphism on age of onset of hereditary nonpolyposis colorectal cancer
    • Kong S, Amos CI, Luthra R, Lynch PM, Levin B, Frazier ML. Effects of cyclin D1 polymorphism on age of onset of hereditary nonpolyposis colorectal cancer. Cancer Res 2000;60:249-52.
    • (2000) Cancer Res , vol.60 , pp. 249-252
    • Kong, S.1    Amos, C.I.2    Luthra, R.3    Lynch, P.M.4    Levin, B.5    Frazier, M.L.6
  • 12
    • 0036645091 scopus 로고    scopus 로고
    • Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease
    • Zatyka M, da Silva NF, Clifford SC, Morris MR, Wiesener MS, Eckardt KU, Houlston RS, Richards FM, Latif F, Maher ER. Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease. Cancer Res 2002;62:3803-11.
    • (2002) Cancer Res , vol.62 , pp. 3803-3811
    • Zatyka, M.1    da Silva, N.F.2    Clifford, S.C.3    Morris, M.R.4    Wiesener, M.S.5    Eckardt, K.U.6    Houlston, R.S.7    Richards, F.M.8    Latif, F.9    Maher, E.R.10
  • 14
    • 0035923248 scopus 로고    scopus 로고
    • A single nucleotide polymorphism in the 3′untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare
    • Kumar R, Smeds J, Berggren P, Straume O, Rozell BL, Akslen LA, Hemminki K. A single nucleotide polymorphism in the 3′untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare. Int J Cancer 2001;95:388-93.
    • (2001) Int J Cancer , vol.95 , pp. 388-393
    • Kumar, R.1    Smeds, J.2    Berggren, P.3    Straume, O.4    Rozell, B.L.5    Akslen, L.A.6    Hemminki, K.7
  • 16
    • 0028981523 scopus 로고
    • Absence of cyclin D1/PRAD1 point mutations in human breast cancers and parathyroid adenomas and identification of a new cyclin D1 gene polymorphism
    • Hosokawa Y, Tu T, Tahara H, Smith AP, Arnold A. Absence of cyclin D1/PRAD1 point mutations in human breast cancers and parathyroid adenomas and identification of a new cyclin D1 gene polymorphism. Cancer Lett 1995;93:165-70.
    • (1995) Cancer Lett , vol.93 , pp. 165-170
    • Hosokawa, Y.1    Tu, T.2    Tahara, H.3    Smith, A.P.4    Arnold, A.5
  • 19
    • 0031448010 scopus 로고    scopus 로고
    • Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene
    • Puig S, Ruiz A, Castel T, Volpini V, Malvehy J, Cardellach F, Lynch M, Mascaro JM, Estivill X. Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene. Hum Genet 1997;101:359-64.
    • (1997) Hum Genet , vol.101 , pp. 359-364
    • Puig, S.1    Ruiz, A.2    Castel, T.3    Volpini, V.4    Malvehy, J.5    Cardellach, F.6    Lynch, M.7    Mascaro, J.M.8    Estivill, X.9
  • 24
    • 2942683037 scopus 로고    scopus 로고
    • Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families
    • Chaudru V, Chompret A, Bressac-de Paillerets B, Spatz A, Avril M-F, Demenais F. Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families. J Natl Cancer Inst 2004;96:785-95.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 785-795
    • Chaudru, V.1    Chompret, A.2    Bressac-de Paillerets, B.3    Spatz, A.4    Avril, M.-F.5    Demenais, F.6
  • 25
    • 0034697655 scopus 로고    scopus 로고
    • Genotype-phenotype relationships in American melanoma-prone families with CDKN2A and CDK4 mutations
    • Goldstein AM, Struewing JP, Chidambaram A, Fraser MC, Tucker MA. Genotype-phenotype relationships in American melanoma-prone families with CDKN2A and CDK4 mutations. J Natl Cancer Inst 2000;92:1006-10.
    • (2000) J Natl Cancer Inst , vol.92 , pp. 1006-1010
    • Goldstein, A.M.1    Struewing, J.P.2    Chidambaram, A.3    Fraser, M.C.4    Tucker, M.A.5
  • 26
    • 34547113603 scopus 로고    scopus 로고
    • Statxact-4, Version 4.0.1. Cambridge, MA: Cytel Software Corporation, 1989-1999
    • Statxact-4, Version 4.0.1. Cambridge, MA: Cytel Software Corporation, 1989-1999.
  • 27
    • 34547101069 scopus 로고    scopus 로고
    • Stata 8.2, Version 8.2. College Station, TX: StataCorp, Copyright, 1994-2004
    • Stata 8.2, Version 8.2. College Station, TX: StataCorp, Copyright, 1994-2004.
  • 30
    • 31544458930 scopus 로고    scopus 로고
    • Fargnoli MC, Spica T, Sera F, Pellacani G, Chiarugi A, Seidenari S, Carli P, Chimenti S, Peris K. Re: MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. J Natl Cancer Inst 2006;98:144-5.
    • Fargnoli MC, Spica T, Sera F, Pellacani G, Chiarugi A, Seidenari S, Carli P, Chimenti S, Peris K. Re: MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. J Natl Cancer Inst 2006;98:144-5.
  • 31
    • 33745881916 scopus 로고    scopus 로고
    • Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: A case-control study
    • Fargnoli MC, Altobelli E, Keller G, Chimenti S, Hofler H, Peris K. Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study. Melanoma Res 2006;16:175-82.
    • (2006) Melanoma Res , vol.16 , pp. 175-182
    • Fargnoli, M.C.1    Altobelli, E.2    Keller, G.3    Chimenti, S.4    Hofler, H.5    Peris, K.6
  • 34
    • 0035068231 scopus 로고    scopus 로고
    • Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair
    • for the Leiden Skin Cancer Study Team
    • Bastiaens MT, ter Huurne JA, Kielich C, Gruis NA, Westendorp RG, Vermeer BJ, Bavinck JN for the Leiden Skin Cancer Study Team. Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. Am J Hum Genet 2001;68:884-94.
    • (2001) Am J Hum Genet , vol.68 , pp. 884-894
    • Bastiaens, M.T.1    ter Huurne, J.A.2    Kielich, C.3    Gruis, N.A.4    Westendorp, R.G.5    Vermeer, B.J.6    Bavinck, J.N.7
  • 35
    • 0035722059 scopus 로고    scopus 로고
    • Melanocortin 1 receptor (MC1R) gen variants are associated with an increased risk for cutaneous melanoma wich is largely independent of skin type and hair color
    • Kennedy C, ter Huurne J, Berkhout M, Gruis N, Bastiaens M, Bergman W, Willemze R, Bavinck JN. Melanocortin 1 receptor (MC1R) gen variants are associated with an increased risk for cutaneous melanoma wich is largely independent of skin type and hair color. J Invest Dermatol 2001;117:294-300.
    • (2001) J Invest Dermatol , vol.117 , pp. 294-300
    • Kennedy, C.1    ter Huurne, J.2    Berkhout, M.3    Gruis, N.4    Bastiaens, M.5    Bergman, W.6    Willemze, R.7    Bavinck, J.N.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.