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Volumn 46, Issue 8, 2010, Pages 1413-1420

MC1R variants increase melanoma risk in families with CDKN2A mutations: A meta-analysis

Author keywords

Cyclin dependent kinase inhibitor 2A; Familial melanoma; Genetic epidemiology; Melanocortin 1 receptor

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A; MELANOCORTIN 1 RECEPTOR;

EID: 77951667623     PISSN: 09598049     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejca.2010.01.027     Document Type: Article
Times cited : (87)

References (35)
  • 2
    • 33750567811 scopus 로고    scopus 로고
    • High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL
    • Goldstein A.M., Chan M., Harland M., et al. High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res 66 (2006) 9818-9828
    • (2006) Cancer Res , vol.66 , pp. 9818-9828
    • Goldstein, A.M.1    Chan, M.2    Harland, M.3
  • 3
    • 27144522283 scopus 로고    scopus 로고
    • Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample
    • Begg C.B., Orlow I., Hummer A.J., et al. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst 97 (2005) 1507-1515
    • (2005) J Natl Cancer Inst , vol.97 , pp. 1507-1515
    • Begg, C.B.1    Orlow, I.2    Hummer, A.J.3
  • 4
    • 38049021654 scopus 로고    scopus 로고
    • Population-based prevalence of CDKN2A and CDK4 mutations in patients with multiple primary melanomas
    • Helsing P., Nymoen D.A., Ariansen S., et al. Population-based prevalence of CDKN2A and CDK4 mutations in patients with multiple primary melanomas. Genes Chromosomes Cancer 47 (2008) 175-184
    • (2008) Genes Chromosomes Cancer , vol.47 , pp. 175-184
    • Helsing, P.1    Nymoen, D.A.2    Ariansen, S.3
  • 5
    • 0037134702 scopus 로고    scopus 로고
    • Geographical variation in the penetrance of CDKN2A mutations for melanoma
    • Bishop D.T., Demenais F., Goldstein A.M., et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 94 (2002) 894-903
    • (2002) J Natl Cancer Inst , vol.94 , pp. 894-903
    • Bishop, D.T.1    Demenais, F.2    Goldstein, A.M.3
  • 6
    • 0034697655 scopus 로고    scopus 로고
    • Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations
    • Goldstein A.M., Struewing J.P., Chidambaram A., Fraser M.C., and Tucker M.A. Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations. J Natl Cancer Inst 92 (2000) 1006-1010
    • (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
  • 7
    • 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., et al. 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 96 (2004) 785-795
    • (2004) J Natl Cancer Inst , vol.96 , pp. 785-795
    • Chaudru, V.1    Chompret, A.2    Bressac-de Paillerets, B.3
  • 8
    • 43049148341 scopus 로고    scopus 로고
    • MC1R variants, melanoma and red hair color phenotype: a meta-analysis
    • Raimondi S., Sera F., Gandini S., et al. MC1R variants, melanoma and red hair color phenotype: a meta-analysis. Int J Cancer 122 (2008) 2753-2760
    • (2008) Int J Cancer , vol.122 , pp. 2753-2760
    • Raimondi, S.1    Sera, F.2    Gandini, S.3
  • 9
    • 63149157274 scopus 로고    scopus 로고
    • Molecular genetics of human pigmentation diversity
    • Sturm R.A. Molecular genetics of human pigmentation diversity. Hum Mol Genet 18 (2009) R9-R17
    • (2009) Hum Mol Genet , vol.18
    • Sturm, R.A.1
  • 10
    • 0035722059 scopus 로고    scopus 로고
    • Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color
    • Kennedy C., ter Huurne J., Berkhout M., et al. Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color. J Invest Dermatol 117 (2001) 294-300
    • (2001) J Invest Dermatol , vol.117 , pp. 294-300
    • Kennedy, C.1    ter Huurne, J.2    Berkhout, M.3
  • 11
    • 21244446712 scopus 로고    scopus 로고
    • MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population
    • Landi M.T., Kanetsky P.A., Tsang S., et al. MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. J Natl Cancer Inst 97 (2005) 998-1007
    • (2005) J Natl Cancer Inst , vol.97 , pp. 998-1007
    • Landi, M.T.1    Kanetsky, P.A.2    Tsang, S.3
  • 12
    • 33746121511 scopus 로고    scopus 로고
    • Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population
    • Stratigos A.J., Dimisianos G., Nikolaou V., et al. Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population. J Invest Dermatol 126 (2006) 1842-1849
    • (2006) J Invest Dermatol , vol.126 , pp. 1842-1849
    • Stratigos, A.J.1    Dimisianos, G.2    Nikolaou, V.3
  • 13
    • 0034837773 scopus 로고    scopus 로고
    • MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations
    • Box N.F., Duffy D.L., Chen W., et al. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am J Hum Genet 69 (2001) 765-773
    • (2001) Am J Hum Genet , vol.69 , pp. 765-773
    • Box, N.F.1    Duffy, D.L.2    Chen, W.3
  • 14
    • 0034834961 scopus 로고    scopus 로고
    • Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma
    • van der Velden P.A., Sandkuijl L.A., Bergman W., et al. Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. Am J Hum Genet 69 (2001) 774-779
    • (2001) Am J Hum Genet , vol.69 , pp. 774-779
    • van der Velden, P.A.1    Sandkuijl, L.A.2    Bergman, W.3
  • 15
    • 26444597589 scopus 로고    scopus 로고
    • Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees
    • Chaudru V., Laud K., Avril M.F., et al. Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees. Cancer Epidemiol Biomarkers Prev 14 (2005) 2384-2390
    • (2005) Cancer Epidemiol Biomarkers Prev , vol.14 , pp. 2384-2390
    • Chaudru, V.1    Laud, K.2    Avril, M.F.3
  • 16
    • 27744479731 scopus 로고    scopus 로고
    • Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations
    • Goldstein A.M., Landi M.T., Tsang S., et al. Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations. Cancer Epidemiol Biomarkers Prev 14 (2005) 2208-2212
    • (2005) Cancer Epidemiol Biomarkers Prev , vol.14 , pp. 2208-2212
    • Goldstein, A.M.1    Landi, M.T.2    Tsang, S.3
  • 17
    • 34547101440 scopus 로고    scopus 로고
    • Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries
    • Goldstein A.M., Chaudru V., Ghiorzo P., et al. Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries. Int J Cancer 121 (2007) 825-831
    • (2007) Int J Cancer , vol.121 , pp. 825-831
    • Goldstein, A.M.1    Chaudru, V.2    Ghiorzo, P.3
  • 18
    • 0037186429 scopus 로고    scopus 로고
    • Advanced methods in meta-analysis: multivariate approach and meta-regression
    • van Houwelingen H.C., Arends L.R., and Stijnen T. Advanced methods in meta-analysis: multivariate approach and meta-regression. Stat Med 21 (2002) 589-624
    • (2002) Stat Med , vol.21 , pp. 589-624
    • van Houwelingen, H.C.1    Arends, L.R.2    Stijnen, T.3
  • 19
    • 0026777701 scopus 로고
    • Methods for trend estimation from summarized dose-response data, with applications to meta-analysis
    • Greenland S., and Longnecker M. Methods for trend estimation from summarized dose-response data, with applications to meta-analysis. Am J Epidemiol 135 (1992) 1301-1309
    • (1992) Am J Epidemiol , vol.135 , pp. 1301-1309
    • Greenland, S.1    Longnecker, M.2
  • 20
    • 0037098199 scopus 로고    scopus 로고
    • Quantifying heterogeneity in a meta-analysis
    • Higgins J.P., and Thompson S.G. Quantifying heterogeneity in a meta-analysis. Stat Med 21 (2002) 1539-1558
    • (2002) Stat Med , vol.21 , pp. 1539-1558
    • Higgins, J.P.1    Thompson, S.G.2
  • 21
    • 0030922816 scopus 로고    scopus 로고
    • Bias in meta-analysis detected by a simple, graphical test
    • Egger M., Davey S.G., Schneider M., and Minder C. Bias in meta-analysis detected by a simple, graphical test. BMJ 315 (1997) 629-634
    • (1997) BMJ , vol.315 , pp. 629-634
    • Egger, M.1    Davey, S.G.2    Schneider, M.3    Minder, C.4
  • 22
    • 33750626267 scopus 로고    scopus 로고
    • MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk
    • Debniak T., Scott R., Masojc B., et al. MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk. Int J Cancer 119 (2006) 2597-2602
    • (2006) Int J Cancer , vol.119 , pp. 2597-2602
    • Debniak, T.1    Scott, R.2    Masojc, B.3
  • 23
    • 56249147495 scopus 로고    scopus 로고
    • CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma
    • Pastorino L., Bonelli L., Ghiorzo P., et al. CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma. Pigment Cell Melanoma Res 21 (2008) 700-709
    • (2008) Pigment Cell Melanoma Res , vol.21 , pp. 700-709
    • Pastorino, L.1    Bonelli, L.2    Ghiorzo, P.3
  • 24
    • 70449518191 scopus 로고    scopus 로고
    • Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes
    • Chaudru V., Lo M.T., Lesueur F., et al. Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes. Fam Cancer 8 (2009) 371-377
    • (2009) Fam Cancer , vol.8 , pp. 371-377
    • Chaudru, V.1    Lo, M.T.2    Lesueur, F.3
  • 25
    • 65249108089 scopus 로고    scopus 로고
    • Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients
    • Council M.L., Gardner J.M., Helms C., et al. Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients. Exp Dermatol 18 (2009) 485-487
    • (2009) Exp Dermatol , vol.18 , pp. 485-487
    • Council, M.L.1    Gardner, J.M.2    Helms, C.3
  • 26
    • 62149096757 scopus 로고    scopus 로고
    • MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters
    • Höiom V., Tuominen R., Käller M., et al. MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters. Pigment Cell Melanoma Res 22 (2009) 196-204
    • (2009) Pigment Cell Melanoma Res , vol.22 , pp. 196-204
    • Höiom, V.1    Tuominen, R.2    Käller, M.3
  • 27
    • 2442564280 scopus 로고    scopus 로고
    • CDKN2A and MC1R mutations in patients with sporadic multiple primary melanoma
    • Peris K., Fargnoli M.C., Pacifico A., et al. CDKN2A and MC1R mutations in patients with sporadic multiple primary melanoma. J Invest Dermatol 122 (2004) 1327-1330
    • (2004) J Invest Dermatol , vol.122 , pp. 1327-1330
    • Peris, K.1    Fargnoli, M.C.2    Pacifico, A.3
  • 28
    • 57649227248 scopus 로고    scopus 로고
    • Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers
    • Cuéllar F., Puig S., Kolm I., et al. Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers. Br J Dermatol 160 (2009) 48-53
    • (2009) Br J Dermatol , vol.160 , pp. 48-53
    • Cuéllar, F.1    Puig, S.2    Kolm, I.3
  • 29
    • 67449150186 scopus 로고    scopus 로고
    • Cutaneous melanoma in childhood and adolescence shows frequent loss of INK4A and gain of KIT
    • Daniotti M., Ferrari A., Frigerio S., et al. Cutaneous melanoma in childhood and adolescence shows frequent loss of INK4A and gain of KIT. J Invest Dermatol 129 (2009) 1759-1768
    • (2009) J Invest Dermatol , vol.129 , pp. 1759-1768
    • Daniotti, M.1    Ferrari, A.2    Frigerio, S.3
  • 30
    • 67849103685 scopus 로고    scopus 로고
    • CDKN2A and MC1R analysis in amelanotic and pigmented melanoma
    • Ghiorzo P., Pastorino L., Pizzichetta M.A., et al. CDKN2A and MC1R analysis in amelanotic and pigmented melanoma. Melanoma Res 19 (2009) 142-145
    • (2009) Melanoma Res , vol.19 , pp. 142-145
    • Ghiorzo, P.1    Pastorino, L.2    Pizzichetta, M.A.3
  • 31
    • 69149085083 scopus 로고    scopus 로고
    • CDKN2A mutations in melanoma families from Uruguay
    • Borges A.L., Cuéllar F., Puig-Butillé J.A., et al. CDKN2A mutations in melanoma families from Uruguay. Br J Dermatol 161 (2009) 536-541
    • (2009) Br J Dermatol , vol.161 , pp. 536-541
    • Borges, A.L.1    Cuéllar, F.2    Puig-Butillé, J.A.3
  • 32
    • 53049099753 scopus 로고    scopus 로고
    • Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families
    • Peric B., Cerkovnik P., Novakovic S., et al. Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families. BMC Med Genet 9 (2008) 86
    • (2008) BMC Med Genet , vol.9 , pp. 86
    • Peric, B.1    Cerkovnik, P.2    Novakovic, S.3
  • 33
    • 34247647905 scopus 로고    scopus 로고
    • Comprehensive evaluation of allele frequency differences of MC1R variants across populations
    • Gerstenblith M.R., Goldstein A.M., Fargnoli M.C., Peris K., and Landi M.T. Comprehensive evaluation of allele frequency differences of MC1R variants across populations. Hum Mutat 28 (2007) 495-505
    • (2007) Hum Mutat , vol.28 , pp. 495-505
    • Gerstenblith, M.R.1    Goldstein, A.M.2    Fargnoli, M.C.3    Peris, K.4    Landi, M.T.5
  • 34
    • 7244247169 scopus 로고    scopus 로고
    • Novel MC1R variants in Ligurian melanoma patients and controls
    • Pastorino L., Cusano R., Bruno W., et al. Novel MC1R variants in Ligurian melanoma patients and controls. Hum Mutat 2 (2004) 103
    • (2004) Hum Mutat , vol.2 , pp. 103
    • Pastorino, L.1    Cusano, R.2    Bruno, W.3
  • 35
    • 72449211941 scopus 로고    scopus 로고
    • Identification of modifier genes for cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations
    • Yang X.R., Pfeiffer R.M., Wheeler W., et al. Identification of modifier genes for cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations. Int J Cancer 125 (2009) 2912-2917
    • (2009) Int J Cancer , vol.125 , pp. 2912-2917
    • Yang, X.R.1    Pfeiffer, R.M.2    Wheeler, W.3


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