Germline mutations of the CDKN2 gene in UK melanoma families

Human Molecular Genetics

Volumn 6, Issue 12, 1997, Pages 2061-2067

  Harland, Mark ^a   Meloni, Rolando ^b   Gruis, Nelleke ^c   Pinney, Elizabeth ^d   Brookes, Sharon ^d   Spurr, Nigel K ^a,f   Frischauf, Anna Marie ^d   Bataille, Veronique ^e   Peters, Gordon ^d   Cuzick, Jack ^d   Selby, Peter ^a   Bishop, D Timothy ^a   Bishop, Julia Newton ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b CNRS   (France)

^c LEIDEN UNIVERSITY   (Netherlands)

^d IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^e ROYAL LONDON HOSPITAL   (United Kingdom)

^f GLAXOSMITHKLINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 9P; EXON; FAMILIAL CANCER; GENE MUTATION; GENETIC PREDISPOSITION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MELANOMA; PENETRANCE; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; DISEASE SUSCEPTIBILITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, P16; GERM-LINE MUTATION; GREAT BRITAIN; HUMANS; MALE; MELANOMA; MIDDLE AGED; PEDIGREE; POLYMORPHISM, GENETIC; PROTEIN BINDING; SEQUENCE ANALYSIS, DNA; VARIATION (GENETICS);

EID: 9844219745     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.12.2061     Document Type: Article

References (31)

1. Kamb, A., Gruis, N.A., Weaver-Feldhaus, J., Liu, Q., Harshman, K., Tavtigian, S.V., Stockert, E., Day III, R.S., Johnson, B.E. and Skolnick, M.H. (1994) A cell cycle regulator potentially involved in genesis of many tumour types. Science, 264, 436-440.
2. Serrano, M., Hannon, G.J. and Beach, D. (1993) A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature, 366, 704-707
3. Cannon-Albright, L.A., Goldgar, D.E., Meyer, L.J., Lewis, C.M., Anderson, D.E., Fountain, J.W., Hegi, M.E., Wiseman, R.W, Petty, E.M., Bale, A.E., Olopade, O.I., Diaz, M.I., Kwiatkowski, D.J., Piepkom, M.W., Zone, J.J. and Skolnick, M.H. (1992) Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science, 258, 1148-1152.
4. Cannon-Albright, L.A., Goldgar, D.E., Neuhausen, S., Gruis, N.A., Anderson, D.E., Lewis, C.M., Jost, M., Tran, T.D., Nyguen, K., Kamb, A., Weaver-Feldhaus, J., Meyer, L.J., Zone, T. and Skolnick, M.H. (1994) Localisation of the melanoma susceptibility locus (MLM) to a 2-cm region between D9S736 and D9S171. Genomics, 23, 265-268.
5. Gruis, N.A., Sandkuijl, L.A., Weber, J.L., van der Zee, A., Borgstein, A.M., Bergman, W. and Frants, R.R. (1993) Linkage analysis in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families. Effect of naevus count. Melanoma Res., 3, 271-277.
6. Nancarrow, D.J. Mann, G.J., Holland, E.A., Walker, G.J., Beaton, S.C., Walters, M.K., Luxford, C., Palmer, J.M., Donald, J.A., Weber, J.A., Fountain, J.W., Kefford, R.F. and Hayward, N.K. 942 (1993) Confirmation of chromosome 9p linkage in familial melanoma. Am. J. Hum. Genet., 53, 936-942.
7. Goldstein, A.M., Dracopoli, N.C., Engelstein, M., Fraser, M.C., Clark, W.H.,Jr and Tucker, M.A. (1994) Linkage of cutaneous malignant melanoma to chromosome 9p, and evidence for genetic heterogeneity. Am. J. Hum. Genet., 54, 489-496.
8. MacGeoch, C., Newton Bishop, J.A., Bataille, V., Bishop, D.T., Frischauf A-M., Meloni, R., Cuzick, J., Pinney, E. and Spurr, N.K. (1994) Genetic heterogeneity in familial malignant melanoma. Hum. Mol. Genet., 3, 2195-2200.
9. Walker, G.J., Nancarrow, D.J., Palmer, J.M., Walters, M.K. and Hayward, N.K. (1994) Haplotype analysis limits the position of the familial melanoma locus on 9p to the D9S169-D9S156 interval. Melanoma Res., 4, 29-34.
10. Nobori, T., Miura, K., Wu, D.J., Lois, A., Takabayashi, K. and Carson, D.A. (1994) Deletions of the cyclin dependant kinase-4 inhibitor gene in multiple human cancers. Nature, 368, 753-756.
11. Okamoto, A., Demetrick, D.J., Spillare, E.A., Hagiwara, K., Hussussian, S.P., Bennett, W.P., Forrester, K., Gerwin, B., Serrano, M., Beach, D.H. and Harris, C.C. (1994) Mutations and altered expression of p16 INK4 in human cancer. Proc. Natl. Acad. Sci. USA, 91, 11045-11049.
12. Liu, Q., Neuhausen, S., McClure, M., Frye, C., Weaver-Feldhaus, J., Gruis, N.A., Eddington, K., Allalunis-Turner, M.J., Skolnick, M.H., Fujimura, F.K. and Kamb, A. (1995) CDKN2 (MTS1) tumor suppressor gene mutations in human tumor cell lines. Oncogene, 10, 1061-1067.
13. Serrano, M., Lee, H., Chin, L., Cordon-Cardo, C., Beach, D. and DePinho, R.A. (1996) Role of the INK4a locus in tumor suppression and cell mortality. Cell, 85, 27-37.
14. Dracopoli, N.C. and Fountain, J.W. (1996) CDKN2 mutations in melanoma. Cancer Surveys, 26, 115-132.
15. Fitzgerald, M.G., Harkin, D.P., Silva-Arrieta S., MacDonald, R.J., Lucchina, L.C., Unsal, H., O'Neill, E., Koh, J., Finkelstein, D.M., Isselbacher, K.J., Sober, A.J. and Haber, D.A. (1996) Prevalence of germline mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic based population. Proc. Natl. Acad. Sci. USA, 93, 8541-8545.
16. Zuo, L., Weger, J., Yang, Q., Goldstein, A.M., Tucker, M.A., Walker, G.J., Hayward, N. and Dracopoli, N.C. (1996) Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nature Genet., 12, 97-99.
17. Wölfel, T., Hauer, M., Schneider, J., Serrano, M., Wolfel, C., Klehmann-Hieb, E., De Piaen, E., Meyer zum Büschenfelde, K. H. and Beach, D. (1995) A p16INK4a-insensitive CDK4 mutant targeted by cytolylic T lymphocytes in a human melanoma. Science, 269, 1281-1284.
18. Bressac-de Paillerets, B., Soufir, N., Chompret, A., Bombled, J., Demenais, F., Spatz, A. and Avril, M.F. (1997) Germ-line mutations in p16 and CDK4 genes in 38 melanoma families. Melanoma Res., 7 supplement I, S132.
19. Parry, D. and Peters, G. (1996) Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. Mol. Cell. Biol., 16, 3844-3852.
20. Kamb, A., Shattuck-Eidens, D., Eeles, R., Liu, Q., Gruis, N.A., Ding, W., Hussey, C., Tran, T., Miki, Y., Weaver-Feldhaus, J., McClure, M., Aitken, J.F., Anderson, D.E., Bergman, W., Frants, R., Goldgar, D.E., Green, A., MacLennan, R., Martin, N.G., Meyer, L.J., Youl, P., Zone, J.J., Skolnick, M.H. and Cannon-Albright, L.A. (1994) Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nature Genet., 8, 22-26.
21. Hussussian, C.J., Struewing, J.P., Goldstein, A.M., Higgins, P.A.T., Ally, D.S., Sheahan, M.D., Clarke, W.H., Tucker, M.A. and Dracopoli, N.C. (1994). Germline p16 mutations in familial melanoma. Nature Genet., 8, 15-21.
22. Walker, G.J., Hussussian, C.J., Flores, J.F., Glendening, J.M., Haluska, F.G., Dracopoli, N.C., Hayward, N.K. and Fountain, J.W. (1995) Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. Hum. Mol. Genet., 4, 1845-1852.
23. Ueki, K., Rubio, M.P., Ramesh, V., Correa, K.M., von Deimling, A., Buckler, A.J., Gusella, J.F. and Louis, D.N. (1994) MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p. Hum. Mol. Genet., 3, 1841-1845.
24. Lukas, J., Parry, D., Aagaard, L., Mann, D.J., Bartkova, J., Strauss, M., Peters, G. and Bartek, J. (1995) Retinoblastoma-protein-dependant cell-cycle inhibition by the tumour suppressor p16. Nature, 375, 503-506.
25. Holland, E.A., Beaton, S.C., Becker, T.M., Grulet, O.M., Peters, B.A., Rizos, H., Kefford, R.F. and Mann, G.J. (1995) Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. Oncogene, 11, 2289-2294.
26. Michaely, P. and Bennett, V. (1993) The membrane binding-domain of ankyrin contains four independently folded subdomains, each comprised of six ankyrin repeats. J. Biol. Chem., 268, 22703-22709.
27. Lilischkis, R., Sarcevic, B., Kennedy, C., Warlters, A. and Sutherland, R.L. (1996) Cancer-associated mis-sense and deletion mutations impair p16INK4 CDK inhibitory activity. Int. J. Cancer, 66, 249-254.
28. Yang, R., Gombart, A.F., Serrano, M. and Koeffler, H.P. (1995) Mutational effects on the p16INK4a tumor suppressor protein. Cancer Res., 55, 2503-2506.
29. Reymond, A. and Brent, R. (1995) p16 proteins from melanoma-prone families are deficient in binding to Cdk4. Oncogene, 11, 1173-1178.
30. Shapiro, G.I., Park, J.E., Edwards, C.D., Mao, L., Merlo, A., Sidransky, D., Ewan, M.E. and Rollins, B.J. (1995) Multiple mechanisms of p16INK4A inactivation in non-small cell lung cancer cell lines. Cancer Res., 55, 6200-6209.
31. Parry, D., Bates, S., Mann, D.J. and Peters, G. (1995) Lack of cyclin D-Cdk complexes in Rb-negative cells correlates with high levels of p16INK4/MTS1 tumour suppressor product. EMBO J., 14, 503-511.