Mutations of ret proto-oncogene in 3 Korean families with MEN 2A: Clinical use of new restriction sites for genetic diagnosis

Endocrine Journal

Volumn 45, Issue 4, 1998, Pages 555-561

  Lee, Myung Shik ^a   Hwang, Dae Youn ^a   Kim, Yun Hee ^a   Chung, Jae Hoon ^a   Oh, Yeon Sang ^b   Lee, Moon Kyu ^a   Kim, Kwang Won ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Chung Ang University College of Medicine   (South Korea)

Author keywords

Genetic diagnosis; MEN; Restriction sites; Ret

Indexed keywords

ARGININE; CYSTEINE; GENE PRODUCT; TYROSINE; TYROSINE KINASE RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; EARLY DIAGNOSIS; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; NUCLEOTIDE SEQUENCE; PHEOCHROMOCYTOMA; POINT MUTATION; PROTO ONCOGENE; RESTRICTION SITE; SIPPLE SYNDROME; SOUTH KOREA; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY;

EID: 0031723231     PISSN: 09188959     EISSN: None     Source Type: Journal    
DOI: 10.1507/endocrj.45.555     Document Type: Article

References (27)

1. Tsuzuki T, Takahashi M, Asai N, Iwashita T, Matsuyama M, Asai J (1995) Spatial and temporal expression of the ret proto-oncogene product in embryonic, infant and adult rat tissue. Oncogene 10: 191-198.
2. Pachnis V, Mankoo B, Costantini F (1993) Expression of the c-ret proto-oncogene during mouse embryogenesis. Development 119: 1005-1017.
3. Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kaarlainen H, Martucciello G (1994) Point mutations affecting the tyrosine kinase domain of the Ret proto-oncogene in Hirschsprung's disease. Nature 367: 377-380.
4. Schuchardt A, D'Agati V, Larsson-Blomberg L, Costantini F, Pachnis V (1994) Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 367: 380-383.
5. Mulligan LM, Kwok JBJ, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, Ponder MA, Telenius H, Tunnacliffe T, Ponder BAJ (1993) Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasias type 2A. Nature 363: 458-460.
6. Hofstra RMW, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, Pasini B, Hoppener JWM, van Amstel HKP, Romeo G, Lips CJM, Buys CHCM (1994) A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia 2B and sporadic medullary thyroid carcinoma. Nature 367: 375-376.
7. Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fekete C, Ponder BAJ, Munnich A (1994) Mutations of the RET protooncogene in Hirschsprung's disease. Nature 367: 378-380.
8. Grieco M, Santoro M, Berlingieri M, Melillo RM, Donghi R, Bongarzone I, Peirotti MA, Della Porta G, Fusco A, Vecchio G (1990) PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinoma. Cell 60: 557-563.
9. Easton DF, Ponder MA, Cummings T, Gagel RF, Hansen HH, Reichlin S, Tashijian AH, TeleniusBerg M, Ponder BA (1989) The clinical and screening age-at-onset distribution for the MEN-2 syndrome. Am J Hum Genet 44: 208-215.
10. Gagel RF, Tashihian AH, Cummings T, Papathanasopoulos N, Kaplan MK, DeLellis RA, Wolfe HJ, Reichlin S (1988) The clinical outcome of prospective screening for multiple endocrine neoplasia 2a. N Eng J Med 318: 478-484.
11. Gagel RG, Jackson CE, Block MA, Feldman JT, Reichlin S, Hamilton BP, Tashijian AH (1982) Age-related probability of development of hereditary medullary thyroid carcinoma. J Pediat 101: 941-946.
12. Simpson NE, Kidd KK, Goodfellow PJ, McDermid H, Myers S, Kidd JR, Jackson CE, Duncan AMV, Farrer LA, Brasch K, Castiglione C, Genel M, Gertner J, Greenberg CR, Gusella JF, Holden JJA, White BN (1987) Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage. Nature 328: 528-530.
13. Mathew CGP, Easton DF, Nakamura Y, Ponder BAJ (1991) Presymptomatic screening for multiple endocrine neoplasia type 2A with linked DNA marker. Lancet 337: 7-11.
14. Frank-Raue K, Hoppner W, Frilling A, Kotzerke J, Dralle H, Haase R, Mann K, Seif F, Kirchner R, Rendl J, Deckart HF, Ritter MM, Hampel R, Klempa J, Scholz GH, Raue F (1996) Mutations of the ret protooncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype. J Clin Endocrinol Metab 81: 1780-1783.
15. Mulligan LM, Ponder BAJ (1995) Genetic basis of endocrine disease: Multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 80: 1989-1995.
16. Rossel M, Schuffenecker I, Schlumberger M, Bonnardel C, Modigliani E, Gardet P, Navarro J, Luo Y, Romeo G, Lenoir G, Billaud M (1995) Detection of a germline mutation at codon 918 of the RET proto-oncogene in French MEN 2B families. Hum Genet 95: 403-406.
17. Santoro M, Carlomagno F, Romano A, Bottaro DP, Dathan NA, Grieco M, Fusco A, Vecchio G, Matoskova B, Kraus MH, Di Fiore PP (1995) Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science 267: 381-383.
18. Asai N, Iwashita T, Matsuyama M, Takahashi M (1995) Mechanism of activation of the ret protooncogene by multiple endocrine neoplasia 2A mutations. Mol Cell Biol 15: 1613-1619.
19. Trupp M, Arenas E, Fainzilber M, Nilsson A-S, Sieber B-A, Grigoriou M, Kilkenny C, Salazar-Grueso E, Pachnis V, Arumae U, Sariola H, Saarma M, Ibanez CF (1996) Functional receptor for GDNF encoded by the c-ret proto-oncogene. Nature 381: 785-789.
20. Jing S, Wen D, Yu Y, Holst PL, Luo Y, Fang M, Tamir R, Antonio L, Hu Z, Cupples R, Louis J-C, Hu S, Altrock BW, Fox GM (1996) GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-a, a novel receptor for GDNF. Cell 85: 1113-1124.
21. Barbot N, Calmettes C, Schffennecker I, Saint-Andre JP, Franc B, Rohmer V, Jallet P, Bigorgne JC (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. J Clin Endocrinol Metab 78: 114-120.
22. Lips CJM, Landsvaater RM, Hoppener JWM, Geerdink RA, Blijham G, J-S. vVJM, van Gils APG, de Wit M, Zewald RA, Berends MJH, Beemer FA, Brouwers-Smalbraak J, Jansen RPM, van Amstel HKP, van Vroonhoven TJMV, Vroom TM (1994) Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Eng J Med 331: 828-835.
23. Takaguchi-Shirahama S, Koyama K, Miyauchi A, Wakasugi T, Oishi S, Takami H, Hikiji K, Nakamura Y (1995) Germline mutations of the RET protooncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A). Hum Genet 95: 187-190.
24. Wells SA, Chi DD, Toshima K, Dehner LP, Coffin CM, Dowton SB, Ivanovich JL, DeBenedetti MK, Dilley WG, Moley JF, Norton JA, Donis-Keller H (1994) Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Ann Surg 220: 237-250.
25. International RET mutation consortium (1996) The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. JAMA 276: 1575-1579.
26. Frilling A, Hoppner W, Eng C, Mulligan L, Raue F, Broelsch CE (1995) Presymptomatic genetic screening in families with multiple endocrine neoplasia type 2. J Mol Med 73: 229-233.
27. O'Riordain DS, O'Brien T, Crotty TB, Gharib H, Grant CS, van Heerden JA (1995) Multiple endocrine neoplasia type 2B: More than an endocrine disorder. Surgery 118: 936-942.