Molecular implications of RET mutations for pheochromocytoma risk in multiple endocrine neoplasia 2

Annals of the New York Academy of Sciences

Volumn 1073, Issue , 2006, Pages 234-240

  Gujral, Taranjit S ^a   Mulligan, Lois M ^a  

^a QUEEN S UNIVERSITY   (Canada)

Author keywords

Genotype phenotype; MEN 2; Pheochromocytoma; RET

Indexed keywords

CYSTEINE; METHIONINE; PHOSPHOTRANSFERASE;

AMINO ACID SUBSTITUTION; CELL TYPE; CONFERENCE PAPER; CORRELATION ANALYSIS; GENE MUTATION; GENOTYPE; HUMAN; MOLECULAR DYNAMICS; NEUROFIBROMATOSIS; NONHUMAN; ONCOGENE; PHENOTYPE; PHEOCHROMOCYTOMA; RECEPTOR BINDING; RISK ASSESSMENT;

EID: 33845481674     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1196/annals.1353.025     Document Type: Conference Paper

References (19)

1. BRAUCKHOFF, M. et al. 2004. Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation: clinical manifestation and course in early and late onset disease. World J. Surg. 28: 1305-1311.
2. SCHUCHARDT, A. et al. 1994. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 367: 380-383.
3. MENG, X. et al. 2000. Regulation of cell fate decision of undifferentiated spermatogonia by GDNF. Science 287: 1489-1493.
4. ARIGHI, E., M.G. BORRELLO & H. SARIOLA. 2005. RET tyrosine kinase signaling in development and cancer. Cytokine Growth Factor Rev. 16: 441-467.
5. MARX, S.J. 2005. Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat. Rev. Cancer 5: 367-375.
6. MULLIGAN, L.M. et al. 1994. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat. Genet. 6: 70-74.
7. SCHUFFENECKER, I. et al. 1994. RET proto-oncogene mutations in French MEN 2A and FMTC families. Hum. Mol. Genet. 3: 1939-1943.
8. SCHUFFENECKER, I. et al. 1998. Risk and penetrance of primary hyperparathy3 roidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D'etude des Tumeurs a Calcitonine. J. Clin. Endocrinol. Metab. 83: 487-491.
9. ENG, C. et al. 1996. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium. JAMA 276: 1575-1579.
10. MULLIGAN, L.M. et al. 1995. Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J. Intern. Med. 238: 343-346.
11. YIP, L. et al. 2003. Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship. Arch. Surg. 138: 409-416.
12. CHAPPUIS-FLAMENT, S. et al. 1998. Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines. Oncogene 17: 2851-2861.
13. PELET, A. et al. 1998. Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease. J. Clin. Invest. 101: 1415-1423.
14. TAKAHASHI, M. et al. 1999. Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function? Hum. Mutat. 13: 331-336.
15. PLAZA-MENACHO, I. et al. 2005. RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor. Cancer Res. 65: 1729-1737.
16. SONGYANG, Z. et al. 1995. Catalytic specificity of protein-tyrosine kinases is critical for selective signalling. Nature 373: 536-539.
17. SANTORO, M. et al. 1995. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science 267: 381-383.
18. GUJRAL, T.S. et al. Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2B. Nat. Genet. Under review.
19. BERNDT, I. et al. 1998. A new hot spot for mutations in the ret proto-oncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J. Clin. Endocrinol. Metab. 83: 770-774.