Molecular mechanisms of development of multiple endocrine neoplasia 2 by RET mutations

Journal of Internal Medicine

Volumn 243, Issue 6, 1998, Pages 509-513

  Takahashi, M ^a   Asai, N ^a   Iwashita, T ^a   Murakami, H ^a   Ito, S ^a  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Hirschsprung's disease; Medullary thyroid carcinoma; Multiple endocrine neoplasia type 2; RET proto oncogene

Indexed keywords

CODON; CONFERENCE PAPER; DATA ANALYSIS; DISEASE ASSOCIATION; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC TRANSFECTION; HIRSCHSPRUNG DISEASE; HISTOCHEMISTRY; HUMAN; HUMAN CELL; PHENOTYPE; PRIORITY JOURNAL; PROTO ONCOGENE; SIPPLE SYNDROME;

CARCINOMA, MEDULLARY; DROSOPHILA PROTEINS; HIRSCHSPRUNG DISEASE; HUMANS; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B; MUTATION; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; THYROID NEOPLASMS; TYROSINE;

EID: 0031808878     PISSN: 09546820     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (22)

1. Takahashi M. Oncogenic activation of the ret protooncogene in thyroid cancer. Crit Rev Oncog 1995; 6: 35-46.
2. Pasini B, Ceccherini I, Romeo G, RET mutations in human disease. Trends Genet 1996; 12: 138-44.
3. Ponder BAJ, Smith D. The MEN-2 syndromes and the role of the ret proto-oncogene. Adv Cancer Res 1996; 70: 179-222.
4. Mulligan LM, Kwok JBJ, Healey CS, Elsdon MJ, Eng C, Gardner E et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993; 363: 458-60.
5. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima T, Lairmore TC et al. Mutations in the RET proto-oncogene are associated with MEN-2A and FMTC. Hum Mol Genet 1993; 2: 851-6.
6. Hofstra RMW, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y et al. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 1994; 367: 375-6.
7. Carlson KM, Dou S, Chi D, Scavarda N, Toshima K, Jackson CE et al. 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 1994; 91: 1579-83.
8. Eng C, Smith DP, Mulligan LM, Healey CS, Zvelebil MJ, Stonehouse TJ et al. A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene 1995; 10: 509-13.
9. Bolino A, Schuffenecker I, Luo Y, Seri M, Silengo M, Tocco T et al. RET mutations in exons 13 and 14 of FMTC patients. Oncogene 1995; 10: 2415-9.
10. Chakravarti A, Endothelin receptor-mediated signaling in Hirschsprung's disease. Hum Mol Genet 1996; 5: 303-7.
11. Santoro M, Carlomagno F, Romano A, Bottaro DP, Dathan NA, Grieco M et al. Activation of RET as a dominant transforming gene by germline mutations of MEN-2A and MEN-2B. Science 1995; 267: 381-3.
12. Asai N, Iwashita T, Matsuyama M, Takahashi M. Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations. Mol Cell Biol 1995; 15: 1613-9.
13. Iwashita T, Asai N, Murakami H, Matsuyama M, Takahashi M. Identification of tyrosine residues that are essential for transforming activity of the ret proto-oncogene with MEN-2A or MEN-2B mutation. Oncogene 1996; 12: 481-7.
14. Borrello MG, Smith DP, Pasini B, Bongarzone I, Greco A, Lorenzo MJ et al. RET activation by germline MEN-2A and MEN-2B mutations. Oncogene 1995; 11: 2419-27.
15. Pasini B, Borrello MG, Greco A, Bongarzone I, Luo Y, Mondellini P et al. Loss of function effect of RET mutations causing Hirschsprung disease. Nature Genet 1995; 10: 35-40.
16. Carlomagno F, De Vita G, Berlingieri MT, de Franciscis V, Melillo RM, Colantuoni V et al. Molecular heterogeneity of RET loss of function in Hirschsprung's disease. EMBO J 1996; 15: 2717-25.
17. Iwashita T, Murakami H, Asai N, Takahashi M. Mechanism of Ret dysfunction by Hirschsprung mutations affecting its extra-cellular domain. Hum Mol Genet 1996; 5: 1577-80.
18. Mulligan LM, Eng C, Attie T, Lyonnet S, Marsh DJ, Hyland VJ et al. Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet 1994; 3: 2163-7.
19. Borst MJ, VanCamp JM, Peacock ML, Decker RA. Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease. Surgery 1995; 117: 386-91.
20. Asai N, Murakami H, Iwashita T, Takahashi M. A mutation at tyrosine 1062 in MEN-2A-Ret and MEN-2B-Ret impairs their transforming activity and association with She adaptor proteins. J Biol Chem 1996; 271: 17644-9.
21. Ito S, Iwashita T, Asai N, Murakami H, Iwata Y, Sobue G et al. Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A. familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. Cancer Res 1997; 57: 2870-72.
22. Ohiwa M, Murakami H, Iwashita T, Asai N, Iwata Y, Imai T et al. Characterization of Ret-Shc-Grb2 complex induced by GNDF. MEN-2 A and MEN-2B mutations. BBRC 1997; 237: 747-51.