Retention of the CDKN2A locus and low frequency of point mutations in primary and metastasic cutaneous malignant melanoma

International Journal of Cancer

Volumn 76, Issue 3, 1998, Pages 312-316

  Ruiz, Anna ^a   Puig, Susana ^b   Lynch, Michael ^a   Castel, Teresa ^b   Estivill, Xavier ^a  

^a HOSPITAL DURAN I REYNALS   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 9P; CLINICAL ARTICLE; CONTROLLED STUDY; GENE LOCUS; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; MELANOMA; MUTATION RATE; POINT MUTATION; PRIORITY JOURNAL;

GENE DELETION; GENES, P16; HUMANS; LOSS OF HETEROZYGOSITY; MELANOMA; POINT MUTATION; POLYMERASE CHAIN REACTION; SKIN NEOPLASMS;

EID: 0031777910     PISSN: 00207136     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0215(19980504)76:3<312::AID-IJC4>3.0.CO;2-Y     Document Type: Article

References (29)

1. CAIRNS. P., MAO, L., MERLO, A., LEE, D.J., SCHWAB. D., EBY. Y, TOKINO, K., VAN DER RIET, P., BLAUGRUND, J.E. and SIDRANSKY, D., Rates of p16 (MTSI) mutations in primary tumours with 9p loss. Science, 265, 415-416 (1994).
2. CALDAS, C, HAHN, S.A., DA COSTA. L.T., REDSTON, M.S., SCHUTTE. M., SEYMOUR, A.B., WEINSTEIN, C.L., HRUBAN, R.H., YEO. C.J. and KERN. S.E., Frequent somatic mutations and homozygous deletions of the pl6 (MTSI) gene in pancreatic adenocarcinoma. Nature Genet., 8, 27-32 (1994).
3. CANNON-ALBRIGHT, L.A. and 15 OTHERS, Assignment of a locus for familial melanoma, MLM, to chromosome 9p 13-22. Science, 258, 1148-1152 (1992).
4. INK4b genes, as well as neighboring 9p21 markers, in sporadic melanoma. Cancer Res., 56, 5023-5032 (1996).
5. FOUNTAIN, J.W. and 12 OTHERS, Homozygous deletions within human chromosome band 9p21 in melanoma. Proc. nat. Acad. Sct. (Wash.), 89, 10557-10561 (1992).
6. GLENDENING. J.M., FLORES, J.F., WALKER. G.J., STONE. S., ALBINO, A.P. and FOUNTAIN, J.W., Homozygous loss of the p15INK4B gene (and not the pl6INK4 gene) during tumour progression in a sporadic-melanoma patient. Cancer Res., 55, 5531-5535 (1995).
7. HAYASHI, N., SUGIMOTA, Y., TSUCHIYA, E., OGAWA, M. and NAKAMURA, Y., Somatic mutations of the MTS (multiple tumor-suppressor) I/CDK4I (cyclin-dependent-kinase-4 inhibitor) gene in human primary non-small-cell lung carcinomas. Biochem. biophys. Res. Comm., 202, 1426-1430 (1994).
8. INK4 in sporadic melanoma. J. invest. Denmitol, 107, 318-321 (1996).
9. HOLLAND. E.A., BEATON, S.C., EDWARDS. B.G., KHFHORD, R.F. and MANN. G.J., Loss of heterozygosity and homozygous deletions on 9p21-22 in melanoma. Oncogene. 9, 1361-1365 (1994).
10. HUSSUSSIAN. C.J., STRUEWING. J.P., GOLDSTEIN. A.M., HIGGINS. P.A.T., ALLY, D.S., SHEAHAN. M.D., CLARK. JR. W.H., TUCKER. M.A. and DRACO-POLI, N.C.,Germline pi6 mutations in familial melanoma. Nature Genet., 8, 15-21 (1994).
11. KAMB. A., GRUIS, N.A., WEAVER-FELDHAUS J., Liu. Q., HARSHMAN. K., TAVTIGIAN. S.V., STUCKERT, E., KINZLER. K.W. and VOGELSTEIN. B., A cell-cycle regulator potentially involved in genesis of many tumor types. Science. 264, 436-440 (1994a).
12. KAMB, A. and 22 OTHERS, Analysis of the p 16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nature Genet., 8, 22-26(1994b).
13. ink4-inhibitory activity. Int. J. Cancer, 66, 249-254 (1996).
14. ARF. Genes, Chromosomes Cancer, 19,52-54(1997).
15. MAO, L., MERLO, A., GAURI, B., SHAPIRO, G.I., EDWARDS, C.D., ROLLINS, B.J. and SIDRANSKY, D., A novel p16INK4A transcript. Cancer Res., 55, 2995-2997 (1995).
16. MERLO, A., HERMAN. J.G., MAO. L., LEE, D.J., GABRIELSON, E., BURGER, P.C., BAYLIN, S.B. and SIDRANSKY, D., 5' CpG island methylation is associated with transcriptional silencing of the tumour suppressor p16/ CDKN2/MTSI in human cancer. Nature Med., 1,686-692 (1995).
17. MORI, T., MIURA. K., AOKI, T., NISHIHIRA, T., MORI. S. and NAKAMURA, Y., Frequent somatic mutations of the MTSI/CDK41 (multiple tumour-suppressor/cyclin-dependent-kinase-4 inhibitor) gene in esophageal squa-mous-cell carcinoma. Cancer Res., 54, 3396-3397 (1994).
18. NOBORI, T., MIURA, K., Wu, D.J., Lois, A., TAKABAYASHI, K. and CARSON, D.A., Deletions of the cyclin-dependent-kinase-4 inhibitor gene in multiple human cancers. Nature (Lond.), 368, 753-756 (1994).
19. OHTA, M., BERD, D., SHIMIZU. M., NAGAI, H., COTICELLI, M.G., MASTRAN-GELO, M., SHIELDS, J.A., SHIELDS, C.L., CROCE, C.M. and HUEBNER, K., Deletion mapping of chromosome region 9p21-9p22 surrounding the CDKN2 locus in melanoma. Int. J. Cancer, 65, 762-767 (1996).
20. OHTA, M., NAGAI, H., SHIMIZU, M., RASIO, D., BERD. D., MASTRANGELO, M., SINGH. A.D., SHIELDS, J.A., CROCE, C.M. and HUEBNER, K., Rarity of somatic and germline mutations of the cyclin-dependent-kinase-4-inhibitor gene, CDK4I, in melanoma. Cancer Res., 54, 5269-5272 (1994).
21. OLOPADE. O.I., BOHLANDER. S.K., POMYKALA, H., MALTERE, E., VAN MELLE, E., LE BEAU, M.M. and DIAZ, M.O., Mapping of the shortest region of overlap of deletions of the short arm of chromosome 9 associated with human neoplasia. Genomics, 14, 437-443 (1992).
22. PLATZ, A., RINGBORG, U., LAGERLÖF. B., LUNDQVIST, E., SEVIGNY, P. and INGANÄS. M., Mutational analysis of the CDKN2 gene in metastases from patients with cutaneous malignant melanoma. Brit. J. Cancer, 73, 344-348 (1996).
23. PUIG, S., Ruiz. A., LAZARO. C. CASTEL. T., LYNCH. M., PALOU, J., VILALTA, A., WEISSENBACH, J., MASCARO. J.M. and ESTIVILL, X., Chromosome 9p deletions in cutaneous malignant melanoma tumours: the minimal deleted region involves markers outside the p16 (CDKN2) gene. Amer. J. hum. Genet., 57, 395-402(1995).
24. QUELLE. D.E., CHENG, M., ASHMUN, R.A. and SHERR. C.J., Cancer-associated mutations at the INK4a locus cancel cell-cycle arrest by p16INK4a but not by the alternative-reading-frame protein p19ARF. Proc. not. Acad. Sci (Wash.), 94, 669-673 (1997).
25. QUELLE, D.E., ZINDY, K. ASHMUN. R.A. and SHERR, C.J., Alternative reading frames of the INK4a tumour-suppressor gene encode two unrelated proteins capable of inducing cell-cycle arrest. Cell, 83, 993-1000 (1995).
26. REED, J.A., LOGANZO, F., SHEA. C.R., WALKER, G.J., FLORES, J.F, GLENDENING, J.M., BOGDANY, J.K., SHIEL, M.J., HALUSKA, F.G., FOUNTAIN. J.W. and ALBINO, A.P., Loss of expression of the p16/cyclin-dependent-kinase-inhibitor-2 tumour-suppressor gene in melanocytic lesions correlates with invasive stage of tumour progression. Cancer Res., 55, 2713-2718 (1995).
27. STONE, S., JIANG, P., DAYANANTH, P., TAVTIGIAN. S.V., KATCHER, H., PARRY, D., PETERS. G. and KAMB. A., Complex structure and regulation of the p16 (MTS1) locus. Cancer Res., 55, 2988-2994 (1995).
28. INK4/CDKN2A gene in cutaneous malignant melanoma correlates with tumour-cell proliferation and invasive stage. Int. J. Cancer (Pred. Oncol), 74, 255-259 (1997).
29. UEKI, K., RUBIO, M.P., RAMESH, V., CORREA, K.M., RUTTER, J.L., VON DEIMLING, A., BUCKLER, A.J., GUSELLA, J.F. and Louis, D.N., MTS1/ CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p. Hum. mol. Genet., 3, 1841-1845(1994).