메뉴 건너뛰기




Volumn 44, Issue 2, 2007, Pages 99-106

Features associated with germline CDKN2A mutations: A GenoMEL study of melanoma-prone families from three continents

(89)  Goldstein, Alisa M a   Chan, May b   Harland, Mark b   Hayward, Nicholas K c   Demenais, Florence d   Bishop, D Timothy b   Azizi, Esther e   Bergman, Wilma f   Bianchi Scarra, Giovanna g   Bruno, William g   Calista, Donato h   Cannon Albright, Lisa A i   Chaudru, Valerie d   Chompret, Agnes j   Cuellar, Francisco k   Elder, David E l   Ghiorzo, Paola g   Gillanders, Elizabeth M m   Gruis, Nelleke A a   Hansson, Johan n   more..


Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR; CYCLIN DEPENDENT KINASE INHIBITOR 2A; UNCLASSIFIED DRUG;

EID: 33847282821     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.043802     Document Type: Article
Times cited : (337)

References (48)
  • 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
  • 3
    • 0030584195 scopus 로고    scopus 로고
    • Correspondence: Familial melanoma and pancreatic cancer
    • Bergman W, Gruis N. Correspondence: familial melanoma and pancreatic cancer. N Engl J Med 1996;334:471.
    • (1996) N Engl J Med , vol.334 , pp. 471
    • Bergman, W.1    Gruis, N.2
  • 5
    • 4544274825 scopus 로고    scopus 로고
    • Goldstein AM. Familial melanoma, pancreatic cancer and germline CDKN2A mutations. Hum Mut 2004;23:630 [Mutation in Brief #718].
    • Goldstein AM. Familial melanoma, pancreatic cancer and germline CDKN2A mutations. Hum Mut 2004;23:630 [Mutation in Brief #718].
  • 6
    • 6844226190 scopus 로고    scopus 로고
    • Soufir N, Avril M-F, Chompret A, Demenais F, Bombled J, Spatz A, Stoppa-Lyonnet D, the French Familial Melanoma Study Group, Benard J, Bressac-de Paillerets B. Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. Hum Mol Genet 1998;7:209-16.
    • Soufir N, Avril M-F, Chompret A, Demenais F, Bombled J, Spatz A, Stoppa-Lyonnet D, the French Familial Melanoma Study Group, Benard J, Bressac-de Paillerets B. Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. Hum Mol Genet 1998;7:209-16.
  • 7
    • 0032887878 scopus 로고    scopus 로고
    • Tucker MA on behalf of the Melanoma Genetics Consortium. Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: A consensus statement of the Melanoma Genetics Consortium
    • Kefford RF, Newton-Bishop JA, Bergman W, Tucker MA on behalf of the Melanoma Genetics Consortium. Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: a consensus statement of the Melanoma Genetics Consortium. J Clin Oncol 1999;17:3245-51.
    • (1999) J Clin Oncol , vol.17 , pp. 3245-3251
    • Kefford, R.F.1    Newton-Bishop, J.A.2    Bergman, W.3
  • 9
    • 0031879641 scopus 로고    scopus 로고
    • CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas
    • MacKie RM, Andrew N, Lanyon WG, Connor JM. CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. J Invest Dermatol 1998;111:269-72.
    • (1998) J Invest Dermatol , vol.111 , pp. 269-272
    • MacKie, R.M.1    Andrew, N.2    Lanyon, W.G.3    Connor, J.M.4
  • 10
    • 0032784037 scopus 로고    scopus 로고
    • CDKN2A. (p16INK4a) and CDK4 mutation analysis in 131 Australian melanoma probands: Effect of family history and multiple primary melanomas
    • Holland EA, Schmid H, Kefford RF, Mann GJ. CDKN2A. (p16INK4a) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas, Genes Chromosomes Cancer, 1999;25:1-10.
    • (1999) Genes Chromosomes Cancer , vol.25 , pp. 1-10
    • Holland, E.A.1    Schmid, H.2    Kefford, R.F.3    Mann, G.J.4
  • 13
    • 0033836334 scopus 로고    scopus 로고
    • Vasen HFA, Gruis NA, Fronts RR, van der Velden PA, Hille ETM, Bergman W. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer 2000;87:809-11.
    • Vasen HFA, Gruis NA, Fronts RR, van der Velden PA, Hille ETM, Bergman W. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer 2000;87:809-11.
  • 18
    • 4143092719 scopus 로고    scopus 로고
    • A novel methionine-53-valine mutation of p16 in a hereditary melanoma kindred
    • Yang G, Niendorf KB, Tsao H. A novel methionine-53-valine mutation of p16 in a hereditary melanoma kindred. J Invest Dermatol 2004;123:574-5.
    • (2004) J Invest Dermatol , vol.123 , pp. 574-575
    • Yang, G.1    Niendorf, K.B.2    Tsao, H.3
  • 20
    • 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
  • 22
    • 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. Human Genet 1997;101:359-64.
    • (1997) Human 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
  • 27
    • 28844487925 scopus 로고    scopus 로고
    • CDKN2A. mutations in Scottish families with cutaneous melanoma: Results from 32 newly identified families
    • Lang J, Boxer M, MacKie RM. CDKN2A. mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families, Br J Dermatol, 2005;153:1121-5.
    • (2005) Br J Dermatol , vol.153 , pp. 1121-1125
    • Lang, J.1    Boxer, M.2    MacKie, R.M.3
  • 31
    • 0026584353 scopus 로고
    • The Dutch FAMMM family material - Clinical and genetic data
    • Bergman W, Gruis NA, Frants RR. The Dutch FAMMM family material - Clinical and genetic data. Cytogenet Cell Genet 1992;59:161-4.
    • (1992) Cytogenet Cell Genet , vol.59 , pp. 161-164
    • Bergman, W.1    Gruis, N.A.2    Frants, R.R.3
  • 34
    • 2942683037 scopus 로고    scopus 로고
    • Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unseleded 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 unseleded 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
  • 37
    • 0031818039 scopus 로고    scopus 로고
    • Screening of germline mutations in the CDK4, CDKN2C, and TP53 genes in familial melanoma: A clinic-based population study
    • Plato A, Hansson J, Ringborg U. Screening of germline mutations in the CDK4, CDKN2C, and TP53 genes in familial melanoma: a clinic-based population study. Int J Cancer 1998;78:13-15.
    • (1998) Int J Cancer , vol.78 , pp. 13-15
    • Plato, A.1    Hansson, J.2    Ringborg, U.3
  • 38
    • 0032900203 scopus 로고    scopus 로고
    • Melanoma development in relation to non-functional p16/INK4A protein and dysplastic nevus syndrome in Swedish melanoma kindreds
    • Hashemi J, Linder S, Platz A, Hansson J. Melanoma development in relation to non-functional p16/INK4A protein and dysplastic nevus syndrome in Swedish melanoma kindreds. Melanoma Res 1999;9:21-30.
    • (1999) Melanoma Res , vol.9 , pp. 21-30
    • Hashemi, J.1    Linder, S.2    Platz, A.3    Hansson, J.4
  • 44
    • 0030612751 scopus 로고    scopus 로고
    • Differential expression of p16(INK4a) and p16 beta transcripts in B-lymphoblastoid cells from members of hereditary melanoma families without CDKN2A exon mutations
    • Rizos H, Becker TM, Holland EA, Kefford RF, Mann GJ. Differential expression of p16(INK4a) and p16 beta transcripts in B-lymphoblastoid cells from members of hereditary melanoma families without CDKN2A exon mutations. Oncogene 1997;15:515-23.
    • (1997) Oncogene , vol.15 , pp. 515-523
    • Rizos, H.1    Becker, T.M.2    Holland, E.A.3    Kefford, R.F.4    Mann, G.J.5
  • 45
    • 33847287130 scopus 로고    scopus 로고
    • Parkin DM, Whelan SL, Ferlay J, Storm H. Cancer Incidence in Five Continents. I to VIII. CANCERMondial, http://www-dep.iarc.fr; Lyon, IARC CancerBase No, 7, 2005;(France).
    • Parkin DM, Whelan SL, Ferlay J, Storm H. Cancer Incidence in Five Continents. Vol I to VIII. CANCERMondial, http://www-dep.iarc.fr; Lyon, IARC CancerBase No, 7, 2005;(France).
  • 47
    • 0742281529 scopus 로고    scopus 로고
    • Shafey O, Dolwick S, Guindon GE, eds, Atlanta, GA: American Cancer Society
    • Shafey O, Dolwick S, Guindon GE, eds. Tobacco control country Profiles, 2003. Atlanta, GA: American Cancer Society, 2003.
    • (2003) Tobacco control country Profiles, 2003
  • 48
    • 27144531061 scopus 로고    scopus 로고
    • Editorial: A piece of the melanoma puzzle
    • Goldstein AM, Tucker MA. Editorial: a piece of the melanoma puzzle. J Natl Cancer Inst 2005;97:1486-7.
    • (2005) J Natl Cancer Inst , vol.97 , pp. 1486-1487
    • Goldstein, A.M.1    Tucker, M.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.