Individuals with presumably hereditary uveal melanoma do not harbour germline mutations in the coding regions of either the P16(INK4A), P14(ARF) or cdk4 genes

British Journal of Cancer

Volumn 82, Issue 4, 2000, Pages 818-822

  Soufir, N ^a,c   Bressac de Paillerets, B ^a   Desjardins, L ^b   Levy C ^b   Bombled, J ^a   Gorin, I ^b   Schlienger, P ^b   Stoppa Lyonnet, D ^b  

^a INSTITUT GUSTAVE ROUSSY   (France)

^b INSTITUT CURIE   (France)

^c SAINT LOUIS HOSPITAL   (France)

Author keywords

Cdk4; Germline mutation; P14(ARF); P16(INK4A); Uveal melanoma

Indexed keywords

CELL CYCLE PROTEIN; CYCLIN DEPENDENT KINASE 4; PROTEIN P16;

ADULT; AGED; ANAMNESIS; ARTICLE; DNA POLYMORPHISM; EXON; FAMILIAL CANCER; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; UVEA MELANOMA;

EID: 0033962097     PISSN: 00070920     EISSN: None     Source Type: Journal    
DOI: 10.1054/bjoc.1999.1005     Document Type: Article

References (38)

1. Aitken J, Welch J, Duffy D, Milligan A, Green A, Martin N and Hayward N (1999) CDKN2A variants in a population-based sample of Queensland families with melanoma. J Natl Cancer Inst 91: 446-452
2. Bale SJ, Dracopoli NC, Tucker MA, Clark WH Jr, Fraser MC, Stanger BZ, Green P, Donis-Keller H, Housman DE and Greene MH (1989) Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p. N Engl J Med 320: 1367-1372
3. Bahuau M, Vidaud D, Jenkins RB, Bieche I, Kimmel DW, Assouline B, Smith JS, Alderete B, Cayuela JM, Harpey JP, Caille B and Vidaud M (1998) Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumours. Cancer Res 58: 2298-3003
4. Bataille V, Pinney E, Hungerford JL, Cuzick J, Bishop DT and Newton JA (1993) Five cases of coexistent primary ocular and cutaneous melanoma. Arch Dermatol 129: 198-201
5. Byeon IJ, Li J, Ericson K, Selby TL, Tevelev A, Kim HJ, O'Maille P and Tsai MD (1998) Tumour suppressor p16INK4A: determination of solution structure and analyses of its interaction with cyclin-dependent kinase 4. Mol Cell 1: 421-431
6. Canning CR and Hungerford J (1988) Familial uveal melanoma. Br J Ophthalmol 72: 241-243
7. Cannon-Albright LA, Goldgar DE, Meyer LJ, Lewis CM, Anderson DE, Fountain JW, Hegi ME, Wiseman RW, Petty EM, Bale AE, Olopade OI, Diaz MO, Kwiatkowski DJ, Piepkorn MW, Zone JJ and Skolnick MH (1992) Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science 258: 1148-1152
8. Chaubert P, Shaw P and Pillet N (1996) Informative MspI polymorphism adjacent to exon 3 of the p16INK4 (MTS1) gene. Mol Cell Probes 10: 467-468
9. Coleman KG, Wautlet BS, Morrissey D, Mulheron J, Sedman SA, Brinkley P, Price S and Webster K (1997) Identification of CDK4 sequences involved in cyclin D1 and p16 binding. J Biol Chem 272: 18869-18874
10. Dracopoli NC and Fountain JW (1996) CDKN2 mutations in melanoma. Cancer Surv 26: 115-132
11. Easton DF, Steele L, Fields P, Ormiston W, Averill D, Daly PA, McManus R, Neuhausen SL, Ford D, Wooster R, Cannon-Albright LA, Stratton MR and Goldgar D (1997) Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Gene: 61: 120-128
12. Goldstein AM, Dracopoli NC, Ho EC, Fraser MC, Kearns KS, Bale SJ, McBride OW, Clark WH Jr and Tucker MA (1993) Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome 1p. and evidence for genetic heterogeneity. Am J Hum Genet 52: 537-550
13. Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis NA, Ding W, Hussey C, Tran T, Miki Y, Weaver-Feldhaus J, McClure M, Aitken JF, Anderson DE, Bergman, W, Frants R, Goldgar DE, Green A, MacLennan R, Martin NG, Meyer LJ, Youl P, Zone JJ, Skolnick MH and Cannon-Albright LA (1994) Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet 8: 22-26
14. Kamijo T, Weber JD, Zambetti G, Zindy F, Roussel MF and Sherr CJ (1998) Functional and physical interactions of the ARF tumour suppressor with p53 and Mdm2. Proc Natl Acad Sci USA 95: 8292-8297
15. Kumar R, Sauroja I, Punnonen K, Jansen C and Hemminki K (1998) Selective deletion of exon 1beta of the p19ARF gene in metastatic melanoma cell lines. Genes Chromosomes Cancer 23: 273-277
16. Liu L, Goldstein AM, Tucker MA, Brill H, Gruis NA, Hogg D and Lassam NJ (1997) 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 19: 52-54
17. Liu L, Dilworth D, Gao L, Monzon J, Summers A, Lassam N and Hogg D (1999) Mutation of the CDKN2A 5′ UTR creates an aberrant initiation codon and predisposes to melanoma. Nat Genet 21: 128-132
18. Lynch HT, Anderson DE and Krush AJ (1968) Heredity and intraocular malignant melanoma. Study of two families and review of forty-five cases. Cancer 21: 119-125
19. Merbs SL and Sidransky D (1999) Analysis of p16 (CDKN2/MTS-1/INK4A) alterations in primary sporadic uveal melanoma. Invest Ophthalmol Vis Sci 40: 779-783
20. Mouriaux F, Casagrande F, Pillaire MJ, Manenti S, Malecaze F and Darbon JM (1998) Differential expression of G1 cyclins and cyclin-dependent kinase inhibitors in normal and transformed melanocytes. Invest Ophthalmol Vis Sci 39: 876-884
21. Newton Bishop JA, Bataille V, Pinney E and Bishop DT (1998) Family studies in melanoma: identification of the atypical mole syndrome (AMS) phenotype (1994). Melanoma Res 4: 199-206
22. Ohta M, Nagai H, Shimizu M, Rasio D, Berd D, Mastrangelo M, Singh AD, Shields JA, Shields CL, Croce CM, et al (1994) Rarity of somatic and germ-line mutations of the cyclin-dependent kinase 4 inhibitor gene, CDK4I, in melanoma. Cancer Res 54: 5269-5272
23. Prescher G, Bornfeld N and Becher R (1994) Two subclones in a case of uveal melanoma: relevance of monosomy 3 and multiplication of chromosome 8q. Cancer Genet Cytogenet 77: 144-146
24. Puig S, Ruiz A, Lazaro C, Castel T, Lynch M, Palou J, Vilalta A, Weissenbach J, Mascaro JM and Estivill X (1995) Chromosome 9p deletions in cutaneous malignant melanoma tumours: the minimal deleted region involves markers outside the p16 (CDKN2) gene. Am J Hum Genet 57: 395-402
25. Serrano M, Hannon GJ and Beach D (1993) A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature 366: 704-707
26. Singh AD, Wang MX, Donoso LA, Shields CL, Potter PD, Shields JA, Elston RC and Fijal B (1996a) Familial uveal melanoma, III. Is the occurrence of familial uveal melanoma coincidental? Arch Ophthalmol 114: 1101-1104
27. Singh AD, Shields CL, De Potter P, Shields JA, Trock B, Cater J and Pastore D (1996b) Familial uveal melanoma. Clinical observations on 56 patients. Arch Ophthalmol 114: 392-399
28. Singh AD, Croce CM, Wary KK, Shields JA, Donoso LA, Shields CL, Huebner K and Ohta M (1996c) Familial uveal melanoma: absence of germ-line mutations involving the cyclin-dependent kinase-4 inhibitor gene (p16). Ophthalmic Genet 17: 39-40
29. Singh AD, Shields CL, Shields JA and De Potter P (1996d) Bilateral primary uveal melanoma. Bad luck or bad genes? Ophthalmology 103: 256-262
30. Singh AD, Wang MX, Donoso LA, Shields CL, De Potter P and Shields JA (1996e) Genetic aspects of uveal melanoma: a brief review. Semin Oncol 23: 768-772
31. Sinilnikova OM, Egan KM, Quinn JL, Boutrand L, Lenoir GM, Stoppa-Lyonnet D, Desjardins L, Levy C, Goldgar D and Gragoudas ES (1999) Germ-line BRCA2 sequence variants in patients with ocular melanoma. Int J Cancer 82: 323-328
32. Speicher MR, Prescher G, du Manoir S, Jauch A, Horsthemke B, Bornfeld N, Becher R and Cremer T (1994) Chromosomal gains and losses in uveal melanomas detected by comparative genomic hybridization. Cancer Res 54: 3817-3823
33. Soulïr N, Avril MF, Chompret A, Demenais F, Bombled J, Spatz A, Stoppa-Lyonnet D, Benard J and Bressac-de Paillerets B (1998) Prevalence of p16 and CDK4 germ-line mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. Hum Mol Genet 7: 209-216
34. Stott FJ, Bates S, James MC, McConnell BB, Starborg M, Brookes S, Palmero I, Ryan K, Hara E, Vousden KH and Peters G (1998) The alternative product from the human CDKN2A locus, p14(ARF), participates in a regulatory feedback loop with p53 and MDM2. EMBO J 17: 5001-5014
35. Tsao H, Benoit E, Sober AJ, Thiele C and Haluska FG (1998) Novel mutations in the p16/CDKN2A binding region of the cyclin-dependent kinase-4 gene. Cancer Res 58: 109-113
36. Van Hees CL, Jager MJ, Blecker JC, Kemme H and Bergman W (1998) Occurrence of cutaneous and uveal melanoma in patients with uveal melanoma and their first degree relatives. Melanoma Res 8: 175-180
37. Wang X, Egan KM, Gragoudas ES and Kelsey KT (1996) Constitutional alterations in p16 in patients with uveal melanoma. Melanoma Res 6: 405-410
38. Zuo L, Weger J, Yang Q, Goldstein AM, Tucker MA, Walker GJ, Hayward N and Dracopoli NC (1996) Germ-line mutations in the P16INK4a binding domain of CDK4 in familial melanoma. Nat Genet 12: 97-99