Constitutional von Hippel-Lindau (VHL) gene deletions detected in VHL families by fluorescence in situ hybridization

Cancer Research

Volumn 59, Issue 21, 1999, Pages 5560-5564

  Pack, Svetlana D ^a,b   Zbar, Berton ^d   Pak, Evgenia ^b   Ault, David O ^b   Humphrey, Jeffrey S ^b   Pham, Thu ^b   Hurley, Kathy ^b   Weil, Robert J ^a   Park, Won Sang ^b   Kuzmin, Igor ^c   Stolle, Catherine ^e   Glenn, Gladys ^b   Liotta, Lance A ^b   Lerman, Michael I ^d   Klausner, Richard D ^b   Linehan, W Marston ^b   Zhuang, Zhengping ^a,b  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

^c SAIC FREDERICK INC   (United States)

^d NATIONAL CANCER INSTITUTE   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CANCER FAMILY; CANCER GENETICS; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE FREQUENCY; GENE LOCUS; GENETIC SCREENING; HUMAN; POINT MUTATION; PRIORITY JOURNAL; VON HIPPEL LINDAU DISEASE;

CHROMOSOMES, HUMAN, PAIR 3; FAMILY HEALTH; FEMALE; GENE DELETION; GENETIC SCREENING; HIPPEL-LINDAU DISEASE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MODELS, GENETIC; POINT MUTATION;

EID: 0033229894     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Linehan, W. M., Lerman, M. I., and Zbar, B. Identification of the von Hippel-Lindau (VHL) gene - its role in renal cancer. J. Am. Med. Assoc., 273: 564-570, 1995.
2. Maher, E. A., and Kaelin, W. G., Jr. von Hippel-Lindau disease. Medicine (Baltimore), 76: 381-391, 1997.
3. Linehan, W. M., and Klausner, R. D. Renal carcinoma. In: B. Vogelstein and K. Kinzler (eds.), The Genetic Basis of Human Cancer, pp. 455-473. New York: McGraw-Hill, 1998.
4. Latif, F., Tory, K., Gnarra, J., Yao, M., Dun, F-M., Orcutt, M. L., Stackhouse, T., Kuzmin, I., Modi, W., Geil, L., Schmidt, L., Zhou, F., Li, H., Wei, M. H., Chen, F., Glenn, G., Choyke, P., Walther, M. M., Weng, Y., Duan, D. R., Dean, M., Glavac, D., Richards, F. M., Crossey, P. A., Ferguson-Smith, M. A., Le Paslier, D., Chumakov, I., Cohen, D., Chinault, A. C., Maher, E. R., Linehan, W. M., Zbar, B., and Lerman, M. I. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science (Washington DC), 260: 1317-1320, 1993.
5. Whaley, J. M., Naglich, J., Gelbert, L., Hsia, Y. E., Lamiell, J. M., Green, J. S., Collins, D., Neumann, H. P. H., Laidlaw, J., Li, F. P., Kleinszanto, A. J. P., Seizinger, B. R., and Kley, N. Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. Am. J. Hum. Genet., 55: 1092-1102, 1994.
6. Clinical Research Group for Japan. Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Hum. Mol. Genet., 4: 2233-2237, 1995.
7. Chen, F., Kishida, T., Yao, M., Hustad, T., Glavac, D., Dean, M., Gnarra, J. R., Orcutt M. L., Duh F. M., Glenn G., Green J., Hsia Y. E., Lamiell J., Li, H., Wei, M. H., Schmidt L., Tory K., Kuzmin I., Stackhouse T., Latif F., Linehan W. M., Lerman M., and Zbar B. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum. Mutat., 5: 66-75, 1995.
8. Maher, E. R., Webster, A. R., Richards, F. M., Green, J. S., Crossey, P. A., Payne, S. J., and Moore, A. T. Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. J. Med. Genet., 33: 328-332, 1996.
9. Zbar, B. von Hippel-Lindau disease and sporadic renal carcinoma. Cancer Surv., 25: 219-232, 1995.
10. Yao, M., Latif, F., Orcult, M. L., Kuzmin, I., Stackhouse, T., Zhou, F. W., Tory, K., Duh, F. M., Richards, F., Maher, E., Laforgia, S., Huebner, K., Lepasilier, D., Linehan, M., Lerman, M., and Zbar, B. von Hippel-Lindau disease - identification of deletion mutations by pulsed-field gel electrophoresis. Hum. Genet., 92: 605-614, 1993.
11. Richards, F. M., Phipps, M. E., Latif, F., Yao, M., Crossey, P. A., Foster, K., Linehan, W. M., Affara, N. A., Lerman, M. I., Zbar, B., Ferguson-Smith M. A., and Maher E. R. Mapping the von Hippel-Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis. Hum. Mol. Genet., 2: 879-882, 1993.
12. Richards, F. M., Crossey, P. A., Phipps, M. E., Foster, K., Latif, F., Evans, G., Sampson, J., Lerman, M. I., Zbar, B., Affara, N. A., Ferguson-Smith, M. A., and Maher E. R. Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene. Hum. Mol. Genet., 3: 595-598, 1994.
13. Stolle, C., Glenn, G., Zbar, B., Humphrey, J. S., Choyke, P., Walther, M., Pack, S., Hurley, K., Andrey, C., Klausner, R., and Linehan, W. M. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum. Mutat., 12: 417-423, 1998.
14. Kuwano, A., Ledbetter, S. A., Dobins, W. B., Emanuel, B. S., and Ledbetter, D. H. Detection of deletions and cryptic translocations in Miller-Dicker syndrome by in situ hybridization. Am. J. Hum. Genet., 49: 707-714, 1991.
15. Hirota, H., Matsuoka, R., Kimura, M., Imamura, S., Joho, K., Ando, M., Takao, A., and Momma, K. Molecular cytogenetic diagnosis of Williams syndrome. Am. J. Med. Genet., 64: 473-477, 1996.
16. Shaffer, L. G., Kennedy, G. M., Spikes, A. S., and Lupski J. R. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am. J. Med. Genet., 69: 325-331, 1997.
17. Krantz, I. D., Rand, E. B., Genin, A., Hunt, P., Jones, M., Louis, A. A., Graham, J. M. Jr, Bhatt, S., Piccoli, D. A., and Spinner, N. B. Deletions of 20p12 in Allagille syndrome: frequency and molecular characterization. Am. J. Med. Genet., 70: 80-86, 1997.
18. Glenn, G. M., Choyke, P. L., Zbar, B., Linehan, W. M. von Hippel-Lindau disease: clinical review and molecular genetics. Problems Urol., 4: 312-330, 1990.
19. 2+-transporting adenosine triphosphatase isoform 2 genes. Cancer Res., 54: 2486-2491, 1994.
20. Pack, S. D., Karkera, J. D., Zhuang, Z., Pak, E., Hwu, P., Balan, K. W., Park, W.-S., Pham, T., Ault, D. O., Moshe, G., Liotta, L. A., Detera-Wadleigh, S. D., and Wadleigh, R. G. Molecular cytogenetic fingerprinting of esophageal squamous cell carcinoma by comparative genomic hybridization (CGH) reveals consistent pattern of chromosomal alterations. Genes Chromosomes Cancer, 25: 160-168, 1999.
21. Demetrick, D. J. The use of archival frozen tumor tissue imprint specimens for fluorescence in situ hybridization. Mod. Pathol., 9: 133-136, 1996.