Molecular genetics of the kidney cancers; Implication of the VHL tumor suppressor gene

Gann Monographs on Cancer Research

Volumn 46, Issue , 1999, Pages 205-214

  Yao, Masahiro ^a   Kondo, Keiichi ^a   Yoshida, Minoru ^a   Kishida, Takeshi ^a   Shun, Taro ^b  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b KOCHI MEDICAL SCHOOL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 3P; CONFERENCE PAPER; DISEASE ASSOCIATION; GENE LOCATION; GENETIC LINKAGE; HUMAN; KIDNEY CARCINOMA; MOLECULAR CLONING; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE; VON HIPPEL LINDAU DISEASE;

EID: 0033031350     PISSN: 00720151     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper

References (49)

1. Aso, T., Lane, S. W., Conaway, J. W., and Conaway, R. C. Elongin (SIII): a multisubunit regulator of elongation by RNA polymerase II. Science, 269, 1439-1443 (1995).
2. Chen, F., Kishida, T., Yao, M. et al. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum. Mutat., 5, 66-75 (1995).
3. Clinical research group for VHL in Japan. Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Hum. Mol. Genet., 4, 2233-2237 (1995).
4. Cohen, A. J., Li, F. P., Berg, S. et al. Hereditary renal-cell carcinoma associated with a chromosomal translocation. N. Engl. J. Med., 301, 592-595 (1979).
5. Duan, D. R., Humphrey, J. S., Chen, D. Y. T. et al. Characterization of the VHL tumor suppressor gene product: localization, complex formation, and the effect of natural inactivating mutations. Proc. Natl. Acad. Sci. USA, 92, 6459-6463 (1995).
6. Duan, D. R., Pause, A., Burgess, W. H. et al. Inhibition of transcription elongation by the VHL tumor suppressor protein. Science, 269, 1402-1406 (1995).
7. Gilcrease, M. Z., Schmidt, L., Zbar, B., Truong, L., Rutledge, M., and Wheeler, T. M. Somatic von Hippel-Lindau mutation in clear cell papillary cystadenoma of the epididymis. Hum. Pathol., 26, 1341-1346 (1995).
8. Glenn, G. M., Choyke, P. L, Zbar, B., and Linehan, W. M. Von Hippel-Lindau disease: clinical review and molecular genetics. Probl. Urol., 4, 312-330 (1990).
9. Gnarra, J. R., Tory, K., Weng, Y. et al. Mutations of the VHL tumour suppressor gene in renal carcinoma. Nature Genet., 7, 85-90 (1994).
10. Gnarra, J. R., Zhou, S, Merrill, M. J. et al. Post-transcriptional regulation of vascular endothelial growth factor mRNA by the product of the VHL tumor suppressor gene. Proc. Natl. Acad. Sci. USA, 93, 10589-10594 (1996).
11. Herman, J. G., Latif, F., Weng, Y. et al. Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma. Proc. Natl. Acad. Sci. USA, 91, 9700-9704 (1994).
12. Iliopoulos, O., Kibel, A., Gray, S., and Kaelin, W. G. Jr. Tumor suppression by the human von Hippel-Lindau gene product. Nature Med., 8, 822-826 (1995).
13. Iliopoulos, O., Levy, A. P., Jiang, C., Kaelin, W. G. Jr., and Goldberg, M. A. Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein. Proc. Natl. Acad. Sci. USA, 93, 10595-10599 (1996).
14. Japanese Urological Association, the Japanese Society of Pathology and Japan Radiological Society. "General Rules for Clinical and Pathological Studies on Renal Cell Carcinoma," 2nd ed. (1992). Kanehara, Tokyo (in Japanese).
15. Kanno, H., Kondo, K., Ito, S. et al. Somatic mutation of the von Hippel-Lindau tumour suppressor gene in sporadic central nervous system hemangioblastomas. Cancer Res., 54, 4845-4847 (1994).
16. Kibel, A., Iliopoulos, O., DeCaprio, J. A., and Kaelin, W. G. Jr. Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C. Science, 269, 1444-1446 (1995).
17. Kinzler K. W. and Vogelstein, B. Lessons from hereditary colorectal cancer. Cell, 87, 159-170 (1996).
18. Kishida, T., Stackhouse, T. M., Chen, F., Lerman, M. I., and Zbar, B. Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations. Cancer Res., 55, 4544-4548 (1995).
19. Knudson, A. G. Antioncogenes and human cancer. Proc. Natl. Acad. Sci. USA, 90, 10914-10921 (1993).
20. Kondo, K., Yoshida, M., Kishida, T. et al. Mutational analysis of the FHIT gene at chromosome 3p14.2, in sporadic renal cell carcinoma (submitted).
21. Kondo, K., Yoshida, M., Yao, M. et al. (unpublished data).
22. Latif, F., Tory, K., Gnarra, J. et al. Identification of von Hippel-Lindau disease tumor suppressor gene. Science, 260, 1317-1320 (1993).
23. Li, F. P., Decher, H. H., Zbar, B. et al. Clinical and genetic studies of renal cell carcinomas in a family with a constitutional chromosome 3;8 translocation: genetics of familial renal carcinoma. Ann. Int. Med., 118, 106-111 (1993).
24. Maher, E. M., Iselius, L., Yates, J. R. W. et al. Von Hippel-Lindau disease: a genetic study. J. Med. Genet., 28, 443-447 (1991).
25. Mukhopadhyay, D., Knebelmann, B., Cohen, H. T., Ananth, S., and Sukhatme, V. P. The von Hippel-Lindau tumor suppressor gene product interacts with Sp1 to repress vascular endothelial growth factor promoter activity. Mol. Cell. Biol., 17, 5629-5639 (1997).
26. Negrini, M., Monaco, C., Vorechovsky, I. et al. The FHIT gene at 3p14.2 is abnormal in breast carcinomas. Cancer Res., 56, 3173-3179 (1996).
27. Ohta, M., Inoue, H., Cotticelli, M. G. et al. The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t (3;8) breakpoint, is abnormal in digestive tract cancer. Cell, 84, 587-597 (1996).
28. Pal, S., Claffey, K. P., Dvorak, H. F., and Mukhopadhyay, D. The von Hippel-Lindau gene product inhibits vascular permeability factor/vascular endothelial factor expression in renal cell carcinoma by blocking protein kinase C pathways. J. Biol. Chem., 272, 27509-27512 (1997).
29. Pause, A., Lee, S., Worrel, R. A. et al. The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the cdc53 family of proteins. Proc. Natl. Acad. Sci. USA, 94, 2156-2161 (1997).
30. Poston, C. D., Jaffe, G. S., Lubensky, I. A. et al. Characterization of the renal pathology of a familial form of renal cell carcinoma associated with von Hippel-Lindau disease: clinical and molecular genetic implications. J. Urol., 153, 22-26 (1995).
31. Schmidt, L., Duh, F-M., Chen, F. et al. Germline and somatic mutations in the tyrosine kinase domain of the MET protooncogene in papillary renal carcinomas. Nature Genet., 16, 68-73 (1997).
32. Schmidt, L., Li. F., Brown, R. S. et al. Mechanisms of tumorigenesis of renal carcinomas associated with the constitutional chromosome 3;8 translocation. Cancer J. Sci. Am., 1, 191-196 (1995).
33. Seizinger, B. R., Rouleau, G. A., Ozelius, L. J. et al. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature, 332, 268-269 (1988).
34. Sekido, Y., Bader, S., Latif, F. et al. Molecular analysis of the von Hippel-Lindau disease tumor suppressor gene in human lung cancer cell lines. Oncogene, 9, 1599-1604 (1994).
35. Shuin, T., Kondo, K., Torigoe, S. et al. Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumour suppressor gene in primary human renal cell carcinomas. Cancer Res., 54, 2852-2855 (1994).
36. Sozzi, G., Veroness, M. L., Negrini, M. et al The FHIT gene at 3p14.2 is abnormal in lung cancer. Cell, 85, 17-26 (1996).
37. Sozzi, G., Alder, H., Tornielli, S. et al. Aberrant FHIT transcripts in Merkel cell carcinoma. Cancer Res., 56, 2472-2474 (1996).
38. Strauss, B. The origin of point mutations in human tumor cells. Cancer Res., 52, 249-253 (1992).
39. Thoenes, W., Storkel, S., and Rumpelt, H. J. Histopathology and classification of renal cell tumours (adenomas, oncocytomas and carcinomas): the basic cytological and histopathological elements and their use for diagnostics. Pathol. Res. Pract., 181, 125-143 (1986).
40. Thoenes, W., Storkel, S., Rumpelt, H. J., and Moll, R. Cytomorphological typing of renal cell carcinoma-a new approach. Eur. Urol., 18, 6-9 (1990).
41. Tsuchiya, H., Iseda, T., and Hino, O. Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor suppressor gene product. Cancer Res., 56, 2881-2885 (1996).
42. Virgilio, L., Shuster, M., Gollin, S. M. et al. FHIT gene alterations in head and neck squamous cell carcinoma. Proc. Natl. Acad. Sci. USA, 93, 9770-9775 (1996)
43. Wang, N. and Perkins, K. L. Involvement of band 3p14 in t (3;8) hereditary renal carcinoma. Cancer Genet. Cytogenet., 11, 479-481 (1984).
44. Yanagisawa, K., Kondo, M., Osada, H. et al. Molecular analysis of the FHIT gene at 3p14.2 in lung cancer cell lines. Cancer Res., 56, 5579-5582 (1996).
45. Yao, M., Latif, F., Orcutt, M. L. et al. Von Hippel-Lindau disease: identification of deletion mutations by pulsed-field gel electrophoresis. Hum. Genet., 92, 605-614 (1993).
46. Yao, M. and Shuin, T. Familial renal cell carcinoma: review of recent molecular genetics. Int. J. Urol., 2, 61-70 (1995).
47. Yoshida, M. A., Ohyashiki, K., Ochi, H. et al. Cytogenetic studies of tumor tissue from patients with nonfamilial renal cell carcinoma. Cancer Res., 46, 2139-2147 (1986).
48. Zbar, B., Brauch, H., Talmadge, C., and Linehan, M. Loss of alleles of loci on the short arm of chromosome 3 in renal cell carcinoma. Nature, 327, 721-724 (1987).
49. Zbar, B., Kishida, T., Chen, F. et al. Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum. Mutat., 8, 348-357 (1996).