Genetic predisposition to phaeochromocytoma: Analysis of candidate genes GDNF, RET and VHL

Human Molecular Genetics

Volumn 6, Issue 7, 1997, Pages 1051-1056

  Woodward, Emma R ^a   Eng, Charis ^b,d   McMahon, Rob ^c   Voutilainen, Raimo ^e   Affara, Nabeel A ^a   Ponder, Bruce A J ^d   Maher, Eamonn R ^a,f  

^a Department of Pathology ^*  (United Kingdom)

^b HARVARD MEDICAL SCHOOL   (United States)

^c CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e UNIVERSITY OF HELSINKI   (Finland)

^f UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR;

ARTICLE; CLINICAL ARTICLE; CONGENITAL DISORDER; CONTROLLED STUDY; FAMILIAL DISEASE; GENE MUTATION; GENETIC PREDISPOSITION; HUMAN; MULTIPLE ENDOCRINE NEOPLASIA; NEUROECTODERM TUMOR; NEUROFIBROMATOSIS; NUCLEIC ACID BASE SUBSTITUTION; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROTO ONCOGENE; VON HIPPEL LINDAU DISEASE;

ADRENAL GLAND NEOPLASMS; DROSOPHILA PROTEINS; FEMALE; GERM-LINE MUTATION; GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR RECEPTORS; HIPPEL-LINDAU DISEASE; HUMANS; MALE; MULTIPLE ENDOCRINE NEOPLASIA; MUTATION; NERVE GROWTH FACTORS; NERVE TISSUE PROTEINS; PHEOCHROMOCYTOMA; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES;

EID: 0030804006     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.7.1051     Document Type: Article

References (35)

1. Anderson, R.J. and Lynch, H.T. (1993) Familial risk for neurendocrine tumours. Curr. Opinion Oncol., 5, 75-84.
2. Schimke, R. (1990) Multiple endocrine neoplasia: how many syndromes? Am. J. Med. Genet., 37, 375-383.
3. Maher, E.R., Webster, A.R., Richards, F.M., Green, J.S., Crossey, P.A., Payne, S.J. and Moore, A.T. (1996) Phenotypic expression in von Hippel-Lindau disease: correlations with germlineVHL gene mutations. J. Med. Genet., 33, 328-332.
4. Riccardi, V.M. (1981) Von Recklinghausen neurofibromatosis. N. Engl. J. Med., 305, 1617-1627.
5. May, A.G., Moss, A., Gutierrez, O.H., Burday, S.Z. and Campbell, R.G. (1981) Clinical study of phaeochromocytoma. Am. J. Surg., 141, 346-352
6. Latif, F., Tory, K., Gnarra, J., Yao, M., Duh, F.M., Orcutt, M.L., Stackhouse, T., Kuzmin, I., Modi, W., Geil, L., Schmidt, L., Zhou, F., LI, H., Wei, M.W., Chen, F., Choyke, P., Walther, M.M., Weng, Y., Duan, S.R., Dean, M., Glavc, D., Richards, F.M., Crossey, P.A., Ferguson-Smith, M.A., LePaslier, D., Chumakov, I., Cohen, D., Chinault, A.C., Maher, E.R., Linehan, W.M., Zbar, B. and Lerman, M.I. (1993) Identification of the von Hippel-Lindau disease tumour suppressor gene. Science, 260, 1317-1320.
7. Crossey, P.A., Richards, F.M., Foster, K., Green, J.S., Prowse, A., Latif, F., Lerman, M.I., Zbar, B., Affara, N.A., Ferguson-Smith, M.A. and Maher, E.R. (1994) Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum. Mol. Genet., 3, 1303-1308.
8. 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, 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. (1995) Germline mutations in the von Hippel-Lindau disease tumour suppressor gene: correlations with phenotype. Hum. Mutat., 5, 66-75.
9. Mulligan, L.M., Kwok, J.B.J., Healey, C.S. Elsdon, M.J., Eng, C. Gardner, E., Love, D.R., Mole, S.E., Moore, J.K., Papi, L., Ponder, M.A., Telenius, H., Tunnacliffe, A. and Ponder, B.A.J. (1993) Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature, 363, 458-460.
10. Donis-Keller, H., Dou, S., Chi, D., Carlson, K.M., Toshima, K., Lairmore, T.C., Howe, J.R., Moley, J.F., Goodfellow, P. and Wells, S.A. (1993) Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum. Mol. Genet., 1, 851-856.
11. Carlson, K.M., Dou, S., Chi, D., Scavarda, N., Toshima, K., Jackson, C., Wells, S., Goodfellow, P. and Donis-Keller, H. (1994) Single missense mutation in the tyrosine kinase catalytic domain of the RET proto-oncogene is associated with multiple endocrine neoplasia type 2B. Proc. Natl. Acad. Sci. USA, 91, 1579-1583.
12. Eng, C., Smith, O.P., Mulligan, L.M., Nagai, M.A., Healey, C.S., Ponder, MA., Gardner, E., Scheumann, G.F.W., Jackson, C.E., Tunnacliffe, A. and Ponder, B.A.J. (1994) Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and and related sporadic tumours. Hum. Mol. Genet., 3, 237-241.
13. Hofstra, R.M.W., Landsvater, R.M., Ceccherini, I., Stulp, R.P., Stelwagen, T., Luo, Y., Pasini, B., Höppener, J.W.M., Ploos van Amstel, H.K., Romeo, G., Lips, C.J.M. and Buys, C.H.C.M. (1994) A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature, 367, 375-376.
14. Mulligan, L.M., Eng, C., Healey, C.S., Clayton, D., Kwok, J.B.J., Gardner, E., Ponder, M.A., Frilling, A., Jackson, C.E., Lehnen, H., Neumann, H.P.H., Thibodeau, S.N. and Ponder, B.A.J. (1994) Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genet., 6, 70-74.
15. Eng, C., Smith, D.P., Mulligan, L.M., Healey, C.S., Zvelbil, M.J., Stonehouse, T.J., Ponder, M.A., Jackson, C.E., Waterfield, M.D. and Ponder, B.A.J. (1995) A novel point mutation on the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene, 10, 509-513.
16. Bolino, A., Schuffenecker, I., Luo, Y., Seri, M., Silengo, M., Tocco, T., Chabrier, G., Houdent, C., Murat, A., Schlumberger, M., Tourniaire, J., Lenoir, G.M. and Romeo, G. (1995) RET mutations in exons 13 and 14 of FMTC patients. Oncogene, 10, 2415-2419.
17. Eng, C., Clayton, D., Schuffenecker, I., Lenoir, G., Cote, G., Gagel, R.F., Ploos van Amstel, H.K., Lips, C.J.M., Nishisho, I., Takai, S.I., Marah, D.J., Robinson, B.C., Frank-Raue, K., Xue, F., Noll, W.W., Romei, C., Pacini, F., Fink, M., Niederle, B., Zedenius, J., Nordenskjöld, M., Komminoth, P., Hendy, G.N., Gharib, H., Thibodeau, S.N., Lacroix, A., Frilling, A., Ponder, B.A.J. and Mulligan, L.M. (1996) The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation consortium analysis. J Am. Med. Assoc., 276, 1575-1579.
18. Luo, Y., Barone, V., Seri, M., Bolino, A., Bocciardi, R., Ceccherini, I., Pasini, B., Toco, T., Lerone, M., Cywes, S., Moore, S., Vanderwinden, J.M., Abramowicz, M.J., Kristofferson, U., Larsson, L.T., Silengo, M., Martuciello, G. and Romeo, G. (1994) Heterogeneity and low detection rate of RET mutations in Hirschprung disease. Eur. J. Hum. Genet., 2, 272-280.
19. Angrist, M., Bolk, S., Thiel, B., Puffenberger, E.G., Hofstra, R.M., Buys, C.H.C.M., Cass, D.T. and Chakravarti, A. (1995) Mutation analysis of the RET receptor tyrosine kinase in Hirschprung disease. Hum. Mol. Genet., 4, 821-830.
20. Attie, T., Pelet, A., Edery P., Eng, C., Mulligan, L.M., Amiel, J., Boutrand, L., Neldjord, C., Nihoulfekete, C., Munnich, A., Ponder, B.A.J. and Lyonnet, S. (1995) Diversity of ret proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum. Mol. Genet., 4, 1381-1386.
21. Trupp, M., Arenas, E., Fainzilber, M., Nilsson, A., Sieber, B., Grigoriou, M., Kilkenny, C., Salazar-Grueso, E., Pachnis, V., Arumäe, U., Saarma, M. and Ibárez, C.F. (1996) Functional receptor for GDNF encoded by the c-ret proto-oncogene. Nature, 381, 785-789.
22. Durbec, P., Marcos-Gutierrez, C.V., Kilkenny, C., Grigoriou, M., Wartiowaara, K., Suvanto, P., Smith, D., Ponder, B., Constanti, F, Saarma, M., Sariola, H. and Pachnis, V. (1996) GDNF signalling through the RET receptor tyrosine kinase. Nature, 381, 789-793.
23. Treanor, J.J.S., Goodman, L., de Sauvage, F., Stone, D.M., Poulsen, K.T., Beck, C.D., Gray, C., Armani, M.P., Pollock, R.A., Hefti, F., Phillips, H.S., Goddard, A., Moore, M.W., Buj-bello, A., Davies, A.M., Asai, N., Takahashi, M., Vandlen, R., Henderson, C.E. and Rosenthal, A. (1996) Characterization of a multicomponent receptor for GDNF. Nature. 382, 80-83.
24. Jing, S.,Wen, D., Yu, Y.,Holst, PL., Luo, Y, Fang, M., Tamir, R., Antonio, L., Hu, Z., Cupples, R., Louis, J., Hu, S., Altrock, B.W. and Fox, G.M. (1996) GDNF-induced activation of the RET protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF. Cell, 85, 1113-1124.
25. Ivanchuk, S.M., Myers, S.M., Eng, C. and Mulligan, L.M. (1996) De novo mutation of GDNF, ligand for RET/GDNFR-alpha receptor complex, in Hirschsprung disease. Hum. Mol. Genet., 5, 2023-2026.
26. Salomon, R., Attié, T, Pelt, A., Bidaud, C., Eng, C., Amiel, J., Sarnacki, S., Goulet, O., Ricour, C., Nihoul-Fékété, C., Munnich, A. and Lyonnet, S. (1996) Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschprung disease. Nature Genet., 14, 345-347.
27. Angrist, M., Bolk, S., Halushka, M., Lapchak, P.A. and Chakravarti, A. (1996) Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschprung disease patient. Nature Genet., 14, 341-343.
28. Crossey, P.A., Eng, C., Ginalska-Malinowska, M., Lennard, T.W.J., Sampson, J.R., Ponder, B.A.J. and Maher E.R. (1995) Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. J. Med. Genet., 32, 885-886.
29. Neumann, H.P.H., Eng, C., Mulligan, L.M., Glavac, D., Ponder, B.A.J., Maher, E.R., Crossey, P.A. and Brauch, H. (1995) Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia type 2. J. Am. Med Assoc., 274, 1149-51.
30. Gross, D.J., Avishai, N., Meiner, V., Filon, D., Zbar, B. and Abeliovich, S. (1996) Familial phaeochromocytoma associated with a novel mutation in the von Hippel-Lindau gene. J. Clin. Endocrinol. Metab., 81, 147-149.
31. Eng, C., Crossey, P.A., Mulligan, L.M., Healey, C.S., Houghton, C., Prowse, A., Chew, S.L., Dahia, P.L.M., O'Riordan, J.L.H., Toledo, S.P.A., Smith, D.P., Maher, E.R. and Ponder, B.A.J. (1995b) Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J. Med. Genet., 32, 934-937.
32. Hofstra, R.M.W., Stelwagen, T., Stulp, R.P., de Jong, D., Hulsbeek, M., Kamsteeg, E.J., van den Berg, A., Landsvater, R.M., Vermey, A., Molenaar, W.M., Lips, C.J.M. and Buys, C.H.C.M. (1996) Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic phaeochromocytomas reveals involvement of these genes in only a minority of cases. J. Clin. Endocrinol. Metab., 81, 2881-2884.
33. Dahia, P.L.M., Toledo, S.P.A., Mulligan, L.M., Maher, E.R., Grossman, A.B. and Eng, C. (1997) Mutation analysis of GDNF, a ligand for the RET/GDFR-alpha receptor complex, in sporadic phaeochromocytomas. Cancer Res. 57, 310-313.
34. Moley, J.F., Brother, M.B., Fong, C. White, P.S., Baylin, S.B., Nelkin, B., Wells, S.A. and Brodeur, G.M. (1992) Consistent association of 1p loss of heterozygosity with pheochromocytomas from patients with multiple endocrine neoplasia type 2 syndromes. Cancer Res., 52, 770-774.
35. Khosla, S., Patel, V.M., Hay, I.D., Schaid, D.J., Grant, C.S., van Heerden, J.A. and Thibodeau, S.N. (1991) Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas. J. Clin. Invest., 87, 1691-1699.