Genetic analysis of seven Mediterranean families with multiple endocrine neoplasia type 2A

Clinical Endocrinology

Volumn 44, Issue 2, 1996, Pages 207-212

  Oriola, Josep ^a   Hernandez, Cristina ^b   Simo, Rafael ^b   Barceló, Anna ^a   Casamitjana, Roser ^a   Vilardell, Enric ^a   Rivera Fillat, Francisca ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL GENERAL DE CATALUNYA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CATECHOLAMINE; PARATHYROID HORMONE; PENTAGASTRIN;

ARTICLE; CONTROLLED STUDY; FAMILIAL DISEASE; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR BIOLOGY; MUTATION; PRIORITY JOURNAL; SIPPLE SYNDROME;

EID: 0030034851     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.1996.652473.x     Document Type: Article

References (30)

1. Barbot, N., Calmettes, C., Schuffenecker, I., Saint-André, J.P., Franc, B., Rohmer, V., Jallet, P. & Bigorgne, J.C. (1994) Pentagastrin stimulation test and early diagnosis of medullary thyroid carcinoma using an immunoradiometric assay of calcitonin: comparison with genetic screening in hereditary medullary thyroid carcinoma. Journal of Clinical Endocrinology and Metabolism, 78, 114-120.
2. Chin, K.S., Mathew, C.G.P., Fong, S.L., Bridges, C.D.B. & Ponder, B.A.J. (1988) Styl RFLP recognised by a human IRBP cDNA localised to chromosome 10. Nucleic Acids Research 16, 1645.
3. Donis-Keller, H., Dou, S., Chi, D., Carlson, K.M., Toshima, K., Lairmore, T.C., Howe, J.R., Molcy, J.R., Goodfellow, P. & Wells, S.A. (1993) Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Human Molecular Genetics, 2, 851-856.
4. Eng, C., Smith, D., Mulligan, L.M., Healey, C., Zvelebil, M.J., Stonehouse, T.J., Ponder, M.A., Jackson, C.E., Waterfield, M.D. & Ponder, B.A.J. (1995) A novel point mutation in the tyrosinc kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene, 10, 509-513.
5. Gagel, R.F., Robinson, M.F., Donovan, D.T. & Alford, B.R. (1993) Medullary thyroid carcinoma: recent progress. Journal of Clinical Endocrinology and Metabolism, 76, 809-814.
6. Gagel, R.F., Tashjian, A.H., Cummings, T., Papathanasopoulos, N., Kaplan, M.M., DeLellis, R.A., Wolfe, H.J. & Reichlin, S. (1988) The clinical outcome of prospective screening for multiple endocrine neoplasia type 2a. An 18-year experience. New England Journal of Medicine, 318, 478-484.
7. Gardner, E., Papi, L., Easton, D.F., Cummings, T., Jackson, C.E., Kaplan, M., Love, D.R., Mole, S.E., Moore, J.K., Mulligan, L.M., Norum, R.A., Ponder, M.A., Reichlin, S., Stall, G., Telenius, H., Telenius-Berg, M., Tunnacliffe, A. & Ponder, B.A.J. (1993) Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2. Human Molecular Genetics, 2, 241-246.
8. Gibson, W.G.H., Peng, T.C. & Croker, B.P. (1982) Age-associated C-cell hyperplasia in the human thyroid. American Journal of Pathology, 106, 388-393.
9. Guilloteau, D., Perdrisot, R., Calmettes, C., Baulieu, J.L., Lecomte, P., Kaphan, G., Milhaud, G., Besnard, J.C., Jallet, P. & Bigorgnc, J.C. (1990) Diagnosis of medullary carcinoma of the thyroid (MTC) by calcitonin assay using monoclonal antibodies: Criteria for the pentagastrine stimulation test in hereditary MTC. Journal Clinical Endocrinology and Metabolism, 71, 1064-1067.
10. Howe, J.R., Lairmore, T.C., Mishra, S.K., Dou, S., Veile, R., Wells, S.A. & Donis-Keller, H. (1992) Improved predictive test for MEN2, using flanking dinuclcotidc repeats and RFLPs. American Journal of Human Genetics, 51, 1430-1442.
11. Kempler, B. & Ritter, M.M. (1991) Unexpected high calcitonin concentration after pentagastrin stimulation. Clinical Chemistry, 37, 473-474.
12. Kwok, J.B., Gardner, E., Warner, J.P., Ponder, B.A. & Mulligan, L.M. (1993) Structural analysis of the human RET protooncogene using exon trapping. Oncogene, 8, 2575-2582.
13. Landsvater, R.M., Rombouts, A.G.M., Meerman, G.J., Schillhornvan Veen, J.M.J., Berends, M.J.H., Geerdink, R.A., Struyvenberg, A., Buys, Ch.H.C.M. & Lips, C.J.M. (1993) The clinical implications of a positive calcitonin test for c-cell hyperplasia in genetically unaffected members of an MEN2A kindred. American Journal of Human Genetics, 52, 335-342.
14. Lichter, J.B., Wu, J., Genel, M., Flynn, S.D., Pakstis, A.J., Kidd, J.R. & Kidd, K.K. (1992) Presymptomatic testing using DNA markers for individuals at risk for familial multiple endocrine neoplasia 2A. Journal of Clinical Endocrinology and Metabolism, 74, 368-373.
15. Liou, G.I., Li, Y., Wang, C., Fong, S.L., Bhattacharya, S. & Bridges, C.D.B. (1987) BgIII RFLP recognized by a human IRBP cDNA localized to chromosome 10. Nucleic Acids Research, 15, 3196.
16. Lips, C.J.M., Landsvater, R.M., Höppener, J.W.M., Geerdink, R.A., Blijham, G., Jansen-Schillhorn Van Veen, J.M., Van Gils, P.G., De Wit, M.J., Zewald, R.A., Berends, M.J.H., Beemer, F.A., Brouwers-Smalbraak, J.B., Jansen. R.P.M., Ploos Van Amstel, H.K., Van Vroonhoven, T.J.M.V. & Vroom, T.M. (1994) Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. New England Journal of Medicine, 331, 828-835.
17. Maniatis, T., Fritsch, E.F. & Sambrook, J. (1982) Molecular Cloning: A Laboratory Manual, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY.
18. Mathew, C.G., Easton, D.F., Nakamura, Y., Ponder, B.A. and the MEN 2A International Collaborative Group (1991) Presymptomatic screening for multiple endocrine neoplasia type 2A with linked DNA markers. Lancet, 337, 7-11.
19. Mole, S.E., Mulligan, L.M., Healey, C.S., Ponder, B.A.J. & Tunnacliffe, A. (1993) Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2. Human Molecular Genetics, 2, 247-252
20. Mulligan, L.M., Eng, C., Healey, C.S., Clayton, D., Kwok, J.B.J., Gardner, E., Ponder, M.A., Frilling, A., Jackson, C.E., Lehnert, H., Neumann, H.P.H., Thibodeau, S.N. & Ponder B.A.J. (1994) Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genetics, 6, 70-74.
21. Mulligan, L.M., Kwok, J.B., 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. & Ponder, B.A.J. (1993) Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature, 363, 458-460.
22. Nakamura, Y., Carlson, M., Krapcho, K., Gill, J., O'Connell, P., Leppert, M., Lathrop, G.M., Lalouel, J.M. & White, R. (1988) Isolation and mapping of a polymorphic DNA sequence pMCK2 on chromosome 10 [D10S15] Nucleic Acids Research, 16, 374.
23. Quadro, L., Panariello, L., Salvatore, D., Carlomagno, H., Del Prete, M., Nunziata, V., Colantuoni, V., Di Giovanni, G., Brandi, M.L., Mannelli, M., Gheri, R., Verga, U., Libroia, A., Berger, N., Fusco, A., Gricco, M. & Santoro, M. (1994) Frequent RET protooncogene mutations in multiple endocrine neoplasia type 2A. Journal Clinical Endocrinology and Metabolism, 79, 590-594.
24. Schuffenecker, I., Billaud, M., Calender, A., Chambe, B., Ginet, N., Calmettes, Cl., Modigliani, E., Lenoir, G.M. and the GETC. (1994). RET proto-oncogene mutations in French MEN 2A and FMTC families. Human Molecular Genetics, 3, 1939-1943.
25. Simpson, W.J., Carruthers, J.S. & Malkin, D. (1990) Results of a screening program for c-cell disease (Medullary thyroid cancer and c-cell hyperplasia). Cancer 65, 570-1576.
26. Takahash, M., Buma, Y., Iwamoto, T., Inaaguma, Y., Ikeda, H. & Hiai, H. (1988) Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene 3, 571-578.
27. Thakker, R.V. (1993) The molecular genetics of the multiple endocrine neoplasia syndromes. Clinical Endocrinology, 38, 1-4.
28. Tsai, M.S., Ledger, G.A., Khosla, S., Gharib, H. & Thibodeau, S.N. (1994) Identification of multiple endocrine neoplasia type 2 gene carriers using linkage analysis of the RET proto-oncogene. Journal Clinical Endocrinology and Metabolism, 78, 1261-1264.
29. Weissel, M., Kainz, H., Tyl, E., Ogunyemi, E. & Woloszczuk, W. (1991) Clinical evaluation of new assay for determination of serum calcitonin concentrations. Acta Endocrinologica, 124, 540-544.
30. Wu, J., Giuffra, L.A., Goodfellow, P.J., Myere, S., Carson, N.L., Anderson, L., Hoyle, S., Simpson, N.E. & Kidd, K. (1989) The β-subunit locus of the human fibroncctin receptor: DNA restriction fragment length polymorphism and linkage mapping studies. Human Genetics, 83, 383-390.