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Volumn 44, Issue 2, 2003, Pages 458-462

Contribution of germline mutations in BRCA2, P16INK4a, P14ARF and P15 to uveal melanoma

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; BRCA2 PROTEIN; GLYCINE; PROTEIN P14; PROTEIN P15; PROTEIN P16;

EID: 0037311133     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.02-0026     Document Type: Article
Times cited : (70)

References (54)
  • 2
    • 0028679058 scopus 로고
    • Solar ultraviolet radiation and ocular disease: A review of the epidemiological and experimental evidence
    • Dolin PJ, Johnson GJ. Solar ultraviolet radiation and ocular disease: a review of the epidemiological and experimental evidence. Ophthalmic Epidemiol. 1994;1:155-164.
    • (1994) Ophthalmic Epidemiol , vol.1 , pp. 155-164
    • Dolin, P.J.1    Johnson, G.J.2
  • 4
    • 0027262340 scopus 로고
    • Familial malignant melanoma of the uvea and p53: A Victorian detective story
    • Jay M, McCartney AC. Familial malignant melanoma of the uvea and p53: a Victorian detective story. Surv Ophthalmol. 1993;37:457-462.
    • (1993) Surv Ophthalmol , vol.37 , pp. 457-462
    • Jay, M.1    McCartney, A.C.2
  • 5
    • 0014235559 scopus 로고
    • Heredity and intraocular malignant melanoma: Study of two families and review of forty-five cases
    • Lynch HT, Anderson DE, Krush AJ. Heredity and intraocular malignant melanoma: study of two families and review of forty-five cases. Cancer. 1968;21:119-125.
    • (1968) Cancer , vol.21 , pp. 119-125
    • Lynch, H.T.1    Anderson, D.E.2    Krush, A.J.3
  • 6
    • 0029737812 scopus 로고    scopus 로고
    • Familial uveal melanoma. III. Is the occurrence of familial uveal melanoma coincidental?
    • Singh AD, Wang MX, Donoso LA, et al. Familial uveal melanoma. III. Is the occurrence of familial uveal melanoma coincidental? Arch Ophthalmol. 1996;114:1101-1104.
    • (1996) Arch Ophthalmol , vol.114 , pp. 1101-1104
    • Singh, A.D.1    Wang, M.X.2    Donoso, L.A.3
  • 7
    • 0029917749 scopus 로고    scopus 로고
    • Familial uveal melanoma: Clinical observations on 56 patients
    • Singh AD, Shields CL, De Potter P, et al. Familial uveal melanoma: clinical observations on 56 patients. Arch Ophthalmol. 1996;114:392-399.
    • (1996) Arch Ophthalmol , vol.114 , pp. 392-399
    • Singh, A.D.1    Shields, C.L.2    De Potter, P.3
  • 9
    • 0022272597 scopus 로고
    • Second cancer following cutaneous melanoma and cancers of the brain, thyroid, connective tissue, bone, and eye in Connecticut, 1935-82
    • Tucker MA, Boice JD Jr, Hoffman DA. Second cancer following cutaneous melanoma and cancers of the brain, thyroid, connective tissue, bone, and eye in Connecticut, 1935-82. Natl Cancer Inst Monogr. 1985;68:161-189.
    • (1985) Natl Cancer Inst Monogr , vol.68 , pp. 161-189
    • Tucker, M.A.1    Boice J.D., Jr.2    Hoffman, D.A.3
  • 11
    • 0022272613 scopus 로고
    • Second cancer following cutaneous melanoma and cancers of the brain, thyroid, connective tissue, bone, and eye in Denmark, 1943-80
    • Osterlind A, Olsen JH, Lynge E, Ewertz M. Second cancer following cutaneous melanoma and cancers of the brain, thyroid, connective tissue, bone, and eye in Denmark, 1943-80. Natl Cancer Inst Monogr. 1985;68:361-388.
    • (1985) Natl Cancer Inst Monogr , vol.68 , pp. 361-388
    • Osterlind, A.1    Olsen, J.H.2    Lynge, E.3    Ewertz, M.4
  • 12
    • 0019271422 scopus 로고
    • Malignant melanoma associated with breast cancer
    • Schoenberg BS, Christine BW. Malignant melanoma associated with breast cancer. South Med J. 1980;73:1493-1497.
    • (1980) South Med J , vol.73 , pp. 1493-1497
    • Schoenberg, B.S.1    Christine, B.W.2
  • 13
    • 85069030545 scopus 로고    scopus 로고
    • Association of ocular melanoma with breast cancer but not with cutaneous melanoma: Results from the Swedish Family-Cancer Database
    • Hemminki K, Jiang Y. Association of ocular melanoma with breast cancer but not with cutaneous melanoma: results from the Swedish Family-Cancer Database. Int J Cancer. 2001;94:907-909.
    • (2001) Int J Cancer , vol.94 , pp. 907-909
    • Hemminki, K.1    Jiang, Y.2
  • 15
    • 0031945911 scopus 로고    scopus 로고
    • Occurrence of cutaneous and uveal melanoma in patients with uveal melanoma and their first degree relatives
    • van Hees CL, Jager MJ, Bleeker JC, Kemme H, Bergman W. Occurrence of cutaneous and uveal melanoma in patients with uveal melanoma and their first degree relatives. Melanoma Res. 1998;8:175-180.
    • (1998) Melanoma Res , vol.8 , pp. 175-180
    • Van Hees, C.L.1    Jager, M.J.2    Bleeker, J.C.3    Kemme, H.4    Bergman, W.5
  • 19
    • 0027769876 scopus 로고
    • A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4
    • Serrano M, Hannon GJ, Beach D. A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature. 1993;366:704-707.
    • (1993) Nature , vol.366 , pp. 704-707
    • Serrano, M.1    Hannon, G.J.2    Beach, D.3
  • 20
    • 0032169516 scopus 로고    scopus 로고
    • The alternative product from the human CDKN2A locus, p14(ARF), participates in a regulatory feedback loop with p53 and MDM2
    • Stott FJ, Bates S, James MC, et al. The alternative product from the human CDKN2A locus, p14(ARF), participates in a regulatory feedback loop with p53 and MDM2. EMBO J. 1998;17:5001-5014.
    • (1998) EMBO J , vol.17 , pp. 5001-5014
    • Stott, F.J.1    Bates, S.2    James, M.C.3
  • 21
    • 0029664339 scopus 로고    scopus 로고
    • Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma
    • Zuo L, Weger J, Yang Q, Goldstein AM, et al. Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nat Genet. 1996;12:97-99.
    • (1996) Nat Genet , vol.12 , pp. 97-99
    • Zuo, L.1    Weger, J.2    Yang, Q.3    Goldstein, A.M.4
  • 22
    • 6844226190 scopus 로고    scopus 로고
    • Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France: The French Familial Melanoma Study Group
    • Soufir N, Avril MF, Chompret A, et al. Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France: The French Familial Melanoma Study Group. Hum Mol Genet. 1998;7:209-216.
    • (1998) Hum Mol Genet , vol.7 , pp. 209-216
    • Soufir, N.1    Avril, M.F.2    Chompret, A.3
  • 23
    • 0029113837 scopus 로고
    • Genomic structure, expression and mutational analysis of the P15 (MTS2) gene
    • Stone S, Dayananth P, Jiang P, et al. Genomic structure, expression and mutational analysis of the P15 (MTS2) gene. Oncogene. 1995; 11:987-991.
    • (1995) Oncogene , vol.11 , pp. 987-991
    • Stone, S.1    Dayananth, P.2    Jiang, P.3
  • 24
    • 0026471719 scopus 로고
    • Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22
    • Cannon-Albright LA, Goldgar DE, Meyer LJ, et al. Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science. 1992;258:1148-1152.
    • (1992) Science , vol.258 , pp. 1148-1152
    • Cannon-Albright, L.A.1    Goldgar, D.E.2    Meyer, L.J.3
  • 25
    • 0027998424 scopus 로고
    • Chromosomal gains and losses in uveal melanomas detected by comparative genomic hybridization
    • Speicher MR, Prescher G, du Manoir S, et al. Chromosomal gains and losses in uveal melanomas detected by comparative genomic hybridization. Cancer Res. 1994;54:3817-3823.
    • (1994) Cancer Res , vol.54 , pp. 3817-3823
    • Speicher, M.R.1    Prescher, G.2    Du Manoir, S.3
  • 26
    • 0027946010 scopus 로고
    • Rarity of somatic and germline mutations of the cyclin-dependent kinase 4 inhibitor gene, CDK4I, in melanoma
    • Ohta M, Nagai H, Shimizu M, et al. Rarity of somatic and germline mutations of the cyclin-dependent kinase 4 inhibitor gene, CDK4I, in melanoma. Cancer Res. 1994;54:5269-5272.
    • (1994) Cancer Res , vol.54 , pp. 5269-5272
    • Ohta, M.1    Nagai, H.2    Shimizu, M.3
  • 27
    • 0032978249 scopus 로고    scopus 로고
    • Analysis of p16 (CDKN2/MTS-1/INK4A) alterations in primary sporadic uveal melanoma
    • Merbs SL, Sidransky D. Analysis of p16 (CDKN2/MTS-1/INK4A) alterations in primary sporadic uveal melanoma. Invest Ophthalmol Vis Sci. 1999;40:779-783.
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 779-783
    • Merbs, S.L.1    Sidransky, D.2
  • 28
    • 0035392955 scopus 로고    scopus 로고
    • Promoter hypermethylation: A common cause of reduced p16(INK4a) expression in uveal melanoma
    • van der Velden PA, Metzelaar-Blok JA, Bergman W, et al. Promoter hypermethylation: a common cause of reduced p16(INK4a) expression in uveal melanoma. Cancer Res. 2001;61:5303-5306.
    • (2001) Cancer Res , vol.61 , pp. 5303-5306
    • Van der Velden, P.A.1    Metzelaar-Blok, J.A.2    Bergman, W.3
  • 29
    • 16944365740 scopus 로고    scopus 로고
    • Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13
    • Easton DF, Steele L, Fields P, et al. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet. 1997;61:120-128.
    • (1997) Am J Hum Genet , vol.61 , pp. 120-128
    • Easton, D.F.1    Steele, L.2    Fields, P.3
  • 30
    • 0033026822 scopus 로고    scopus 로고
    • The dangers of atypical mole (dysplastic nevus syndrome)
    • Marghoob AA. The dangers of atypical mole (dysplastic nevus syndrome). Postgrad Med. 1999;105:147-154.
    • (1999) Postgrad Med , vol.105 , pp. 147-154
    • Marghoob, A.A.1
  • 32
    • 0034976926 scopus 로고    scopus 로고
    • Relationship between glutathione S-transferase M1, P1 and T1 polymorphisms and early onset prostate cancer
    • Kote-Jarai Z, Easton D, Edwards SM, et al. Relationship between glutathione S-transferase M1, P1 and T1 polymorphisms and early onset prostate cancer. Pharmacogenetics. 2001;11:325-330.
    • (2001) Pharmacogenetics , vol.11 , pp. 325-330
    • Kote-Jarai, Z.1    Easton, D.2    Edwards, S.M.3
  • 33
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
    • Ganguly A, Rock MJ, Prockop DJ. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA. 1993;90:10325-10329.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 34
    • 0006713602 scopus 로고
    • Identification of the breast cancer susceptibility gene BRCA2
    • Wooster R, Bignell G, Lancaster J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378:789-792.
    • (1995) Nature , vol.378 , pp. 789-792
    • Wooster, R.1    Bignell, G.2    Lancaster, J.3
  • 36
    • 0028121279 scopus 로고
    • A cell cycle regulator potentially involved in genesis of many tumor types
    • Kamb A, Gruis NA, Weaver-Feldhaus J, et al. A cell cycle regulator potentially involved in genesis of many tumor types. Science. 1994;264:436-440.
    • (1994) Science , vol.264 , pp. 436-440
    • Kamb, A.1    Gruis, N.A.2    Weaver-Feldhaus, J.3
  • 37
    • 9444276546 scopus 로고    scopus 로고
    • Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: Analysis of a clinic-based population
    • FitzGerald MG, Harkin DP, Silva-Arrieta S, et al. Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. Proc Natl Acad Sci USA. 1996;93:8541-8545.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 8541-8545
    • FitzGerald, M.G.1    Harkin, D.P.2    Silva-Arrieta, S.3
  • 38
    • 0012970475 scopus 로고    scopus 로고
    • Bethesda, MD
    • Genbank. National Center for Biotechnology Information, Bethesda, MD; available at http://www.ncbi.nlm.nih.gov/Genbank/. Accessed August 10, 2002.
  • 39
    • 84871466818 scopus 로고    scopus 로고
    • National Center for Biotechnology Information, Bethesda, MD
    • Breast Cancer Information Core Mutation databases. National Center for Biotechnology Information, Bethesda, MD; available at http://research.nhgri.nih.gov/projects/bic/. Accessed August 10, 2002.
    • Breast Cancer Information Core Mutation Databases
  • 40
    • 33846999274 scopus 로고    scopus 로고
    • Institute of Medical Genetics, Cardiff, Wales, UK
    • Human Gene Mutation Database. Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, Wales, UK; available at http://archive.uwcm.ac.uk/uwcm/mg. Accessed August 10, 2002.
    • Human Gene Mutation Database
  • 41
    • 0013027999 scopus 로고    scopus 로고
    • European Molecular Biology Laboratory, Heidelberg, Germany
    • ClustalW (ver. 1.82) multiple sequence alignment program. European Bioinformatics Institute, European Molecular Biology Laboratory, Heidelberg, Germany; available at http://www.ebi.ac.uk/clustalw/. Accessed August 10, 2001.
    • ClustalW (Ver. 1.82) Multiple Sequence Alignment Program
  • 42
    • 0033962097 scopus 로고    scopus 로고
    • Individuals with presumably hereditary uveal melanoma do not harbour germline mutations in the coding regions of either the P16INK4A, P14ARF or cdk4 genes
    • Soufir N, Bressac-de Paillerets B, Desjardins L, et al. Individuals with presumably hereditary uveal melanoma do not harbour germline mutations in the coding regions of either the P16INK4A, P14ARF or cdk4 genes. Br J Cancer. 2000;82:818-822.
    • (2000) Br J Cancer , vol.82 , pp. 818-822
    • Soufir, N.1    Bressac-de Paillerets, B.2    Desjardins, L.3
  • 43
    • 0028971713 scopus 로고
    • Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds
    • Walker GJ, Hussussian CJ, Flores JF, et al. Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. Hum Mol Genet. 1995;4:1845-1852.
    • (1995) Hum Mol Genet , vol.4 , pp. 1845-1852
    • Walker, G.J.1    Hussussian, C.J.2    Flores, J.F.3
  • 44
    • 0037134702 scopus 로고    scopus 로고
    • Geographical variation in the penetrance of CDKN2A mutations for melanoma
    • Bishop DT, Demenais F, Goldstein AM, et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002;94:894-903.
    • (2002) J Natl Cancer Inst , vol.94 , pp. 894-903
    • Bishop, D.T.1    Demenais, F.2    Goldstein, A.M.3
  • 45
    • 0030458702 scopus 로고    scopus 로고
    • Constitional alterations in p16 in patients with uveal melanoma
    • Wang X, Egan KM, Gragoudas ES, Kelsey KT. Constitional alterations in p16 in patients with uveal melanoma. Melanoma Res. 1996;6:405-410.
    • (1996) Melanoma Res , vol.6 , pp. 405-410
    • Wang, X.1    Egan, K.M.2    Gragoudas, E.S.3    Kelsey, K.T.4
  • 46
    • 0029915636 scopus 로고    scopus 로고
    • Familial uveal melanoma: Absence of germline mutations involving the cyclin-dependent kinase-4 inhibitor gene (p16)
    • Singh AD, Croce CM, Wary KK, et al. Familial uveal melanoma: absence of germline mutations involving the cyclin-dependent kinase-4 inhibitor gene (p16). Ophthalmic Genet. 1996;17:39-40.
    • (1996) Ophthalmic Genet , vol.17 , pp. 39-40
    • Singh, A.D.1    Croce, C.M.2    Wary, K.K.3
  • 47
    • 0033516265 scopus 로고    scopus 로고
    • Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer
    • Peto J, Collins N, Barfoot R, Seal S, et al. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst. 1999;91:943-949.
    • (1999) J Natl Cancer Inst , vol.91 , pp. 943-949
    • Peto, J.1    Collins, N.2    Barfoot, R.3    Seal, S.4
  • 48
    • 0032970956 scopus 로고    scopus 로고
    • Germline brca2 sequence variants in patients with ocular melanoma
    • Sinilnikova OM, Egan KM, Quinn JL, et al. Germline brca2 sequence variants in patients with ocular melanoma Int J Cancer. 1999;82:325-328.
    • (1999) Int J Cancer , vol.82 , pp. 325-328
    • Sinilnikova, O.M.1    Egan, K.M.2    Quinn, J.L.3
  • 49
    • 0033523268 scopus 로고    scopus 로고
    • Cancer risks in BRCA2 mutation carriers
    • The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999;91:1310-1316.
    • (1999) J Natl Cancer Inst , vol.91 , pp. 1310-1316
  • 50
    • 15444350658 scopus 로고    scopus 로고
    • Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors
    • Bahuau M, Vidaud D, Jenkins RB, et al. Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors. Cancer Res. 1998;58:2298-2303.
    • (1998) Cancer Res , vol.58 , pp. 2298-2303
    • Bahuau, M.1    Vidaud, D.2    Jenkins, R.B.3
  • 51
    • 0035170850 scopus 로고    scopus 로고
    • A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family
    • Randerson-Moor JA, Harland M, Williams S, et al. A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. Hum Mol Genet. 2001;10:55-56.
    • (2001) Hum Mol Genet , vol.10 , pp. 55-56
    • Randerson-Moor, J.A.1    Harland, M.2    Williams, S.3
  • 52
    • 0031963952 scopus 로고    scopus 로고
    • Novel mutations in the p16/CDKN2A binding region of the cyclin-dependent kinase-4 gene
    • Tsao H, Benoit E, Sober AJ, Thiele C, Haluska FG. Novel mutations in the p16/CDKN2A binding region of the cyclin-dependent kinase-4 gene. Cancer Res. 1998;58:109-113.
    • (1998) Cancer Res , vol.58 , pp. 109-113
    • Tsao, H.1    Benoit, E.2    Sober, A.J.3    Thiele, C.4    Haluska, F.G.5
  • 53
    • 0029017087 scopus 로고
    • Chromosome 9p deletions in cutaneous malignant melanoma tumors: The minimal deleted region involves markers outside the p16 (CDKN2) gene
    • Puig S, Ruiz A, Lazaro C, et al. Chromosome 9p deletions in cutaneous malignant melanoma tumors: the minimal deleted region involves markers outside the p16 (CDKN2) gene. Am J Hum Genet. 1995;57:395-402.
    • (1995) Am J Hum Genet , vol.57 , pp. 395-402
    • Puig, S.1    Ruiz, A.2    Lazaro, C.3
  • 54
    • 0031000617 scopus 로고    scopus 로고
    • Affected members of melanoma-prone families with linkage to 9p21 but lacking mutations in CDKN2A do not harbor mutations in the coding regions of either CDKN2B or p19ARF
    • Liu L, Goldstein AM, Tucker MA, et al. Affected members of melanoma-prone families with linkage to 9p21 but lacking mutations in CDKN2A do not harbor mutations in the coding regions of either CDKN2B or p19ARF. Genes Chromosomes Cancer. 1997; 19:52-54.
    • (1997) Genes Chromosomes Cancer , vol.19 , pp. 52-54
    • Liu, L.1    Goldstein, A.M.2    Tucker, M.A.3


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