Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors

Cancer Research

Volumn 58, Issue 11, 1998, Pages 2298-2303

  Bahuau, Michel ^a   Vidaud, Dominique ^a   Jenkins, Robert B ^b   Bièche, Ivan ^a   Kimmel, David W ^b   Assouline, Brigitte ^a   Smith, Justin S ^b   Alderete, Benjamin ^b   Cayuela, Jean Michel ^c   Harpey, Jean Paul ^d   Caille, Bernard ^d   Vidaud, Michel ^a  

^a FACULTÉ DES SCIENCES PHARMACEUTIQUES ET BIOLOGIQUES   (France)

^b MAYO CLINIC   (United States)

^c SAINT LOUIS HOSPITAL   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CANCER SUSCEPTIBILITY; CHROMOSOME 16P; CHROMOSOME MAP; GENE DELETION; GENE DISRUPTION; GENETIC LINKAGE; GERM LINE; HEMIZYGOSITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MELANOMA; NERVOUS SYSTEM TUMOR; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

ADULT; AGED; ALLELES; CARRIER PROTEINS; CELL CYCLE PROTEINS; CHROMOSOMES, HUMAN, PAIR 9; CYCLIN-DEPENDENT KINASE INHIBITOR P15; CYCLIN-DEPENDENT KINASE INHIBITOR P16; CYCLIN-DEPENDENT KINASE INHIBITOR P19; FEMALE; GENE DELETION; GENES, P16; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MELANOMA; MICROSATELLITE REPEATS; NEOPLASMS, SECOND PRIMARY; NEOPLASTIC SYNDROMES, HEREDITARY; NERVOUS SYSTEM NEOPLASMS; PEDIGREE; SEQUENCE ANALYSIS, DNA; TUMOR SUPPRESSOR PROTEINS;

EID: 15444350658     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Challa, V. R., Goodman, H. O., and Davis, C. H. Familial brain tumors: studies of two families and review of recent literature. Neurosurgery (Baltimore), 12: 18-23, 1983.
2. Lynch, H. T., Fusaro, R. M., Pester, J., and Lynch, J. F. Familial atypical multiple mole melanoma (FAMMM) syndrome: genetic heterogeneity and malignant melanoma. Br. J. Cancer, 42: 58-70, 1980.
3. Foulkes, W. D., Flanders, T. Y., Pollock, P. M., and Hayward, N. K. The CDKN2A (p16) gene and human cancer. Mol. Med., 3: 5-20, 1997.
4. Goldstein, A. M., Dracopoli, N. C., Ho, E. C., Fraser, M. C., Kearns, K. S., Bale, S. J., McBride, O. W., Clark, W. H., and Tucker, M. A. Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus on chromosome Ip, and evidence for genetic heterogeneity. Am. J. Hum. Genet., 52: 537-550, 1993.
5. INK4a binding domain of CDK4 in familial melanoma. Nat. Genet., 12: 97-99, 1996.
6. Azizi, E., Friedman, J., Pavlotsky, F., Iscovich, J., Bornstein, A., Shafir, R., Trau, H., Brenner, H., and Nass, D. Familial cutaneous malignant melanoma and tumors of the nervous system - a hereditary cancer syndrome. Cancer (Phila.), 76: 1571-1578, 1995.
7. Bahuau, M., Vidaud, D., Kujas, M., Palangié, A., Assouline, B., Chaignaud-Lebreton, M., Prieur, M., Vidaud, M., Harpey, J-P., Lafourcade, J., and Caille, B. Familial aggregation of malignant melanoma/dysplastic nævi and tumours of the nervous system: an original syndrome of tumour proneness. Ann. Genet., 4: 78-91, 1997.
8. Kaufman, D. K., Kimmel, D. W., Parisi, J. E., and Michels, V. V. A familial syndrome with cutaneous malignant melanoma and cerebral astrocytoma. Neurology, 43: 1728-1731, 1993.
9. Jen, J., Harper, J. W., Bigner, S. H., Bigner, D. D., Papadopoulos, N., Markowitz, S., Willson, J. K. V., Kinzler, K. W., and Vogelstein, B. Deletion of p16 and p15 genes in brain tumors. Cancer Res., 54: 6353-6358, 1994.
10. Kamb, A., Gruis, N. A., Weaver-Feldhaus, J., Liu, Q., Harshman, K., Tavtigian, S. V., Stockert, E., Day, R. S., Johnson, B. E., and Skolnick, M. H. A cell cycle regulator potentially involved in genesis of many tumor types. Science (Washington DC), 264: 436-440, 1994.
11. 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.
12. Cairns, P., Polascik, T. J., Eby, Y., Tokino, K., Califano, J., Merlo, A., Mao, L., Herath, J., Jenkins, R., Westra, W., Rutter, J. L., Buckler, A., Gabrielson, E., Tockman, M., Cho, K. R., Hedrick, L., Bova, G. S., Isaacs, W., Koch, W., Schwab, D., and Sidransky, D. Frequency of homozygous deletion at p16/CDKN2 in primary human tumours. Nat. Genet., 11: 210-212, 1995.
13. Ohta, M., Berd, D., Shimizu, M., Nagai, H., Cotticelli, M-G., Mastrangelo, M., Shields, J. A., Shields, C. L., Croce, C. M., and Huebner, K. Deletion mapping of chromosome region 9p21-p22 surrounding the CDKN2 locus in melanoma. Int. J. Cancer, 65: 762-767, 1996.
14. 1 control. Cancer Res., 55: 4818-4823, 1995.
15. Quelle, D. E., Zindy, F., Ashmun, R. A., and Sherr, C. J. Alternative reading frames of the INK4a tumor suppressor gene encode two unrelated proteins capable of inducing cell cycle arrest. Cell, 83: 993-1000, 1995.
16. ARF. Cell, 91: 649-659, 1997.
17. Stone, S., Dayananth, P., Jiang, P., Weaver-Feldhaus, J. M., Tavtigian, S. V., Cannon-Albright, L., and Kamb, A. Genomic structure, expression and mutational analysis of the P15 (MTS2) gene. Oncogene, 11: 987-991, 1995.
18. Bartkova, J., Lukas, J., Guldberg, P., Alsner, J., Kirkin, A. F., Zeuthen, J., and Bartek, J. The p16-cyclin D/Cdk4-pRb pathway as a functional unit frequently altered in melanoma pathogenesis. Cancer Res., 56: 5475-5483, 1996.
19. Mælandsmo, G. M., Flørens, V. A., Hovig, E., Øyjord, T., Engebraaten, O., Holm, R., Børresen, A-L., and Fodstad, Ø. Involvement of the pRB/p16/cdk4/cyclin D1 pathway in the tumorigenesis of sporadic malignant melanoma. Br. J. Cancer, 73: 909-916, 1996.
20. 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 tumor suppressor gene in melanocytic lesions correlates with invasive stage of tumor progression. Cancer Res., 55: 2713-2718, 1995.
21. Sonoda, Y., Yoshimoto, T., and Sekiya, T. Homozygous deletion of the MTS1/p16 and MTS2/p15 genes and amplification of the CDK4 gene in glioma. Oncogene, 11: 2145-2149, 1995.
22. Ueki, K., Ono, Y., Henson, J. W., Efird, J. T., von Deimling, A., and Louis, D. N. CDKN2/p16 or RB alterations occur in the majority of glioblastomas and are inversely correlated. Cancer Res., 56: 150-153, 1996.
23. Whelan, A. J., Bartsch, D., and Goodfellow, P. J. A familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor suppressor gene. N. Engl. J. Med., 333: 975-977, 1995.
24. INK4a allele. J. Natl. Cancer Inst., 88: 1489-1491, 1996.
25. ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. Proc. Natl. Acad. Sci. USA, 93: 8541-8545, 1996.
26. ARF Proc. Natl. Acad. Sci. USA, 94: 669-673, 1997.
27. Serrano, M., Lee, H-W., Chin, L., Cordon-Cardo, C., Beach, D., and DePinho, R. A. Role of the INK4a locus in tumor suppression and cell mortality. Cell, 85: 27-37, 1996.
28. INK4A/MTS2 genes in glioma cells and primary glioma tissues. Cancer Lett., 97: 241-247, 1995.
29. INK4b genes, as well as neighboring 9p21 markers, in sporadic melanoma. Cancer Res., 56: 5023-5032, 1996.
30. INk4B. Cancer Res., 56: 722-727, 1996.
31. Platz, A., Hansson, J., Månsson-Brahme, E., Lagerlöf, B., Linder, S., Lundqvist, E., Sevigny, P., Inganäs, M., and Ringborg, U. Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma. J. Natl. Cancer Inst., 89: 697-702, 1997.
32. INK4B in families with glioma. Clin. Cancer Res., 3: 977-981, 1997.
33. INK4A mutation and protein dysfunction in a family with inherited melanoma. Oncogene, 11: 405-412, 1995.
34. Petty, E. M., Gibson, L. H., Fountain, J. W., Bolognia, J. L., Yang-Feng, T. L., Housman, D. E., and Bale, A. E. Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumor suppressor gene(s). Am. J. Hum. Genet., 53: 96-104, 1993.
35. Puig, S., Ruiz, A., Lázaro, C., Castel, T., Lynch, M., Palou, J., Vilalta, A., Weissenbach, J., Mascaro, J-M., and Estivill, X. Chromosome 9p deletions in cutaneous malignant melanoma tumors: the minimal deleted region involves markers outside the p16 (CDKN2) gene. Am. J. Hum. Genet., 57: 395-402, 1995.
36. INK4a/CDKN2 by illegitimate V(D)J recombinase activity in T-cell acute lymphoblastic leukemias. Blood, 90: 3720-3726, 1997.