RET protooncogene mutations in patients with apparently sporadic medullary thyroid carcinoma

Journal of the Formosan Medical Association

Volumn 97, Issue 8, 1998, Pages 541-546

  Huang, Chien Ning ^a   Wu, Shih Lu ^b   Chang, Tien Chun ^a,d   Huang, Shih Horng ^a   Chang, Tien Jye ^c  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b CHINA MEDICAL UNIVERSITY   (Taiwan)

^c NATIONAL CHUNG HSING UNIVERSITY   (Taiwan)

^d NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Germline mutation; Medullary thyroid carcinoma; RET protooncogene; Somatic mutation

Indexed keywords

OLIGONUCLEOTIDE;

ADULT; ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; FEMALE; HUMAN; LEUKOCYTE; MALE; POLYMERASE CHAIN REACTION; PROTO ONCOGENE; SOMATIC MUTATION; THYROID MEDULLARY CARCINOMA;

ADULT; CARCINOMA, MEDULLARY; DROSOPHILA PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; PROTO-ONCOGENES; RECEPTOR PROTEIN-TYROSINE KINASES; THYROID NEOPLASMS;

EID: 0031695617     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Raue F, Frank-Raue K, Grauer A: Multiple endocrine neoplasia type 2: clinical features and screening. Endocrinol Metab Clin North Am 1994;23:137-56.
2. Donis-Keller H, Dou S, Chi D, et al: Mutations in the RET protooncogene are associated with MEN 2A and FMTC. Hum Mol Genet 1993;2:851-6.
3. Mulligan LM, Eng C, Healey CS, et al: Specific mutations of the RET protooncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 1994;6:70-4.
4. Tsai MS, Ledger GA, Khosla S, et al: Identification of multiple endocrine neoplasia type 2 gene carriers using linkage analysis and analysis of the RET protooncogene. J Clin Endocrinol Metab 1994;78:1261-4.
5. Santoro M, Rosati R, Grieco M, et al: The RET protooncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas. Oncogene 1990;5:1595-8.
6. Takahashi M, Buma Y, Iwamoto T, et al: Cloning and expression of the RET protooncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene 1988;3-571-8.
7. Kwok JBJ, Gardner E, Warner JP, et al: Structural analysis of the human RET protooncogene using exon trapping. Oncogene 1993;8:2575-82.
8. Mulligan LM, Kwok JBJ, Healey CS, et al: Germ-line mutations of the RET protooncogene in multiple endocrine neoplasia type 2A. Nature 1993;363:458-60.
9. Frank-Raue K, Hoppner W, Frilling A, et al: Mutations of the RET protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. J Clin Endocrinol Metab 1996;81: 1780-3.
10. Feldmann GL, Kambouris M, Talpos GB, et al: Clinical value of direct DNA analysis of the RET protooncogene in families with multiple endocrine neoplasia type 2A. Surgery 1994;116:1042-7.
11. Ledger GA, Khosla S, Lindor NM, et al: Genetic testing in the diagnosis and management of multiple endocrine neoplasia type II. Ann Intern Med 1995;122:118-24.
12. Quadro L, Panariello L, Salvatore D, et al: Frequent RET protooncogene mutations in multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab 1994;79:590-4.
13. Wells SA, Chi DD, Toshima K, et al: Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Ann Surg 1994;220:237-50.
14. Schuffenecker I, Billaud M, Calender A, et al: RET protooncogene mutations in French MEN 2A and FMTC families. Hum Mol Genet 1994;3:1939-43.
15. Eng C, Smith DP, Mulligan LM, et al: A novel point mutation in the tyrosine kinase domain of the RET protooncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogen 1995;10:509-13.
16. Hofstra RMW, Landsvater RM, Ceccherini I, et al. A mutation in the RET protooncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 1994;367:375-6.
17. Carlson KM, Dou S, Chi D, et al: Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci USA 1994;91:1579-83.
18. Eng C, Smith DP, Mulligan LM, et al: Point mutation within the tyrosine kinase domain of the RET protooncogene in multiple endocrine neoplasia type 2B and related sporadic tumors. Hum Mol Genet 1994;3: 237-41.
19. Eng C, Mulligan LM, Smith DP. et al: Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma. Genes Chromosom Cancer 1995;12:209-12.
20. Blaugrund JE, Johns MM Jr, Eby YJ, et al: RET protooncogene mutations in inherited and sporadic medullary thyroid cancer. Hum Mol Genet 1994;3:1895-7.
21. Zedenius J, Wallin G, Hamberger B, et al: Somatic and MEN 2A de novo mutations identified in the RET protooncogene by screening of sporadic MTCs. Hum Mol Genet 1994;3:1259-62.
22. Komminoth P, Kunz EK, Matias-Guiu X, et al: Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. Cancer 1995;76:479-89.
23. Romei C, Elisei R, Pinchera A, et al: Somatic mutations of the RET protooncogene in sporadic medullary thyroid carcinomas are not restricted to exon 16 and are associated with tumor recurrence. J Clin Endocrinol Metab 1996; 81:1619-22.
24. Kimura T, Yoshimoto K, Yokogoshi Y, et al: Mutations in the cysteine-rich region of the RET protooncogene in patients diagnosed as having sporadic medullary thyroid carcinomas. Endocrine J 1995;42:517-25.
25. Marsh DJ, Learoyd DL, Andrew SD, et al: Somatic mutations in the RET protooncogene in sporadic medullary thyroid carcinomas. Clin Endocrinol 1996;44: 249-57.
26. Dou C, Chi D, Carlson KM, et al: RET protooncogene mutations associated with sporadic cases of medullary thyroid carcinomas. In: Proceedings of the 5th International Workshop on Multiple Endocrine Neoplasia, 1994, Stockholm, Sweden, 1994:73.
27. Ponder BAJ, Finer N, Coffey R, et al: Familial screening in medullary thyroid carcinoma presenting without a family history. Quart J Med 1988;67:299-308.
28. Gagel RF, Cote GJ, Martins Bugalho MJ, et al: Clinical use of molecular information in the management of multiple endocrine neoplasia type 2A. J Int Med 1995;238:333-41.
29. Wohllk N, Cote GJ, Bugalho MM, et al: Relevance of RET protooncogene mutations in sporadic medullary thyroid carcinomas. J Clin Endocrinol Metab 1996;81:3740-5.
30. Komminoth P, Roth J, Muletta-Feurer S, et al: RET protooncogene point mutations in sporadic neuroendocrine tumors. J Clin Endocrinol Metab 1996;81:2041-6.
31. Eng C, Mulligan LM, Smith DP, et al: Low frequency of germline mutations in the RET protooncogene in patients with apparently sporadic medullary thyroid carcinoma, Clin Endocrinol 1995;43:123-7.
32. Carlson KM, Bracamontes J, Jackson CE, et al: Parent-of-origin effects in multiple endocrine neoplasia type 2B. Am J Hum Genet 1994;55:1076-82.
33. Mulligan LM, Eng C, Healey CS, et al: A de novo mutation of the RET protooncogene in a patient with MEN 2A. Hum Mol Genet 1994;3:1007-8.
34. Landsvater RM, Jansen RPM, Hofstra RMW, et al: Mutation analysis of the RET protooncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A. Hum Genet 1996;97:11-4.
35. Schuffenecker I, Ginet N, Goldgar D, et al. Prevalence and parental origin of de novo RET mutation in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Am J Hum Genet 1997;60:233-7.
36. Huang SM, Tao BL, Tzeng CC, et al: Prenatal molecular diagnosis of RET protooncogene mutation in multiple endocrine neoplasia type 2A. J Formos Med Assoc 1997;96:542-4.