Evaluation of the role of RET polymorphisms/haplotypes as modifier loci for MEN 2, and analysis of the correlation with the type of RET mutation in a series of Spanish patients

International Journal of Molecular Medicine

Volumn 17, Issue 4, 2006, Pages 575-581

  Fernández, Raquel María ^a   Navarro, Elena ^a   Antiñolo, Guillermo ^a   Ruiz Ferrer, Macarena ^a   Borrego, Salud ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

Author keywords

Genetic modifier; Haplotype; Medullary thyroid cancer; MEN 2; Polymorphism; RET proto oncogene

Indexed keywords

PROTEIN RET;

ALLELE; ARTICLE; COMPARATIVE STUDY; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETICS; GENOTYPE; HAPLOTYPE; HUMAN; MALE; MEDULLARY CARCINOMA; MUTATION; NEUROFIBROMATOSIS; NUCLEOTIDE SEQUENCE; SIPPLE SYNDROME; SPAIN; THYROID TUMOR;

ALLELES; CARCINOMA, MEDULLARY; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENOTYPE; GERM-LINE MUTATION; HAPLOTYPES; HUMANS; MALE; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B; MUTATION; POLYMORPHISM, GENETIC; PROTO-ONCOGENE PROTEINS C-RET; SPAIN; THYROID NEOPLASMS;

EID: 33745227501     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.17.4.575     Document Type: Article

References (43)

1. Schimke RN: Genetic aspects of multiple endocrine neoplasia. Annu Rev Med 35: 25-31, 1984.
2. Eng C: RET proto-oncogene in the development of human cancer. J Clin Oncol 17: 380-393, 1999.
3. Gorlin RJ, Sedano HO, Vickers RA and Cervenka J: Multiple mucosal neuromas, phaeochromocytoma and medullary thyroid carcinoma of the thyroid: a syndrome. Cancer 22: 293-299, 1968.
4. Farndon JR, Leight GS, Dilley WG, Baylin SB, Smallridge RC, Harrison TS and Wells SA Jr: Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. Br J Surg 73: 278-281, 1986.
5. Eng C, Clayton D, Schuffenecker I, et al: The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 276: 1575-1579, 1996.
6. Hansford JR and Mulligan LM: Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis. J Med Genet 37: 817-827, 2000.
7. Asai N, Iwashita T, Matsuyama M and Takahashi M: Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations. Mol Cell Biol 15: 1613-1619, 1995.
8. Borrello MG, Smith DP, Pasini B, et al: RET activation by germline MEN2A and MEN2B mutations. Oncogene 11: 2419-2427, 1995.
9. Santoro M, Carlomagno F, Romano A, et al: Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science 267: 381-383, 1995.
10. Sanchez B, Robledo M, Biarnes J, et al: High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain. J Med Genet 36: 68-70, 1999. (Pubitemid 29103469)
11. Dang GT, Cote GJ, Schultz PN, Khorana S, Decker RA and Gagel RF: A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy. Mol Cell Probes 13: 77-79, 1999.
12. Iwashita T, Kato M, Murakami H, et al: Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. Oncogene 18: 3919-3922, 1999.
13. Pasini A, Geneste O, Legrand P, et al: Oncogenic activation by two distinct FMTC mutations affecting the tyrosine kinase domain. Oncogene 15: 393-402, 1997. (Pubitemid 27370988)
14. Kitamura Y, Scavarda N, Wells SA Jr, Jackson CE and Goodfellow PJ: Two maternally derived missense mutations in the tyrosine kinase domain of the RET proto-oncogene in a patient with de novo MEN2B. Hum Mol Genet 5: 1987-1988, 1995.
15. Smith DP, Houghton C and Ponder BA: Germline mutation of RET codon 883 in two cases of de novo MEN 2B. Oncogene 15: 1213-1217, 1997.
16. Takahashi M: The GDNF/RET signaling pathway and human diseases. Cytokine Growth Factor Rev 12: 361-373, 2001.
17. Ponder BA: The phenotypes associated with ret mutations in the multiple endocrine neoplasia type 2 syndrome. Cancer Res 59: 1736-1741, 1999.
18. Gil L, Azanedo M, Pollan M, et al: Genetic analysis of RET, GFR alpha 1 and GDNF genes in Spanish families with multiple endocrine neoplasia type 2A. Int J Cancer 99: 299-304, 2002.
19. Robledo M, Gil L, Pollan M, et al: Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A. Cancer Res 63: 1814-1817, 2003.
20. Patocs A, Valkusz Z, Igaz P, Balogh K, Toth M, Varga I and Racz K: Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer. Clin Genet 63: 219-223, 2003.
21. Magalhaes PK, De Castro M, Elias LL, Soares EG and Maciel LM: Polymorphisms in the RET proto-oncogene and the phenotypic presentation of familial medullary thyroid carcinoma. Thyroid 14: 848-852, 2004. (Pubitemid 39489010)
22. Vanhorne JB, Andrew SD, Harrison KJ, et al: A model for GFR alpha 4 function and a potential modifying role in multiple endocrine neoplasia 2. Oncogene 24: 1091-1097, 2005.
23. Borrego S, Eng C, Sanchez B, Saez ME, Navarro E and Antiñolo G: Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease. J Clin Endocrinol Metab 83: 3361-3364, 1998.
24. Fernandez RM, Antiñolo G, Eng C and Borrego S: The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes. Hum Mutat 22: 412-415, 2003.
25. Inabnet WB, Caragliano P and Pertsemlidis D: Pheochromocytoma: inherited associations, bilaterality, and cortex presentation. Surgery 128: 1007-1011, 2000.
26. Dracapoli NH, Haines JL and Korf BR (eds): Current Protocols in Human Genetics. John Wiley & Sons, New York, 1994.
27. Brandi ML, Gagel RF, Angeli A, et al: Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86: 5658-5671, 2001.
28. Borrego S, Wright FA, Fernandez RM, et al: A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma. Am J Hum Genet 72: 88-100, 2003. (Pubitemid 36056845)
29. Fernandez RM, Boru G, Peciña A, et al: Ancestral RET haplotype associated with Hirschsprung disease shows linkage disequilibrium breakpoint at -1249. J Med Genet 42: 322-327, 2005.
30. Ceccherini I, Hofstra RM, Luo Y, et al: DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene 9: 3025-3029, 1994.
31. Borrego S, Saez ME, Ruiz A, Gimm O, Lopez-Alonso M, Antiñolo G and Eng C: Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet 36: 771-774, 1999. (Pubitemid 29462322)
32. Borrego S, Ruiz A, Saez ME, et al: RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet 37: 572-578, 2000. (Pubitemid 30604093)
33. Ruiz A, Antiñolo G, Fernandez RM, Eng C, Marcos I and Borrego S: Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population. Clin Endocrinol (Oxf) 55: 399-402, 2001.
34. Fernandez RM, Robledo M, Antiñolo G, Pecina A, Ruiz-Llorente S, Eng C and Borrego S: The RET IVS1-126G→T variant is strongly associated with the development of sporadic medullary thyroid cancer. Thyroid 14: 329-331, 2004.
35. Saez ME, Ruiz A, Cebrian A, Morales F, Robledo M, Antiñolo G and Borrego S: A new germline mutation, R600Q, within the coding region of the RET proto-oncogene: a rare polymorphism or a MEN 2 causing mutation. Hum Mutat 15: 122, 2000.
36. Antiñolo G, Marcos I, Fernandez RM, Romero M and Borrego S: A novel germline point mutation, c.2304 G→T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma. Am J Med Genet 110: 85-87, 2002.
37. Pigny P, Bauters C, Wemeau JL, et al: A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma. J Clin Endocrinol Metab 84: 1700-1704, 1999. (Pubitemid 30644279)
38. Da Silva AM, Maciel RM, Da Silva MR, Toledo SR, De Carvalho MB and Cerutti JM: A novel germ-line point mutation in RET exon 8 [Gly(533)Cys] in a large kindred with familial medullary thyroid carcinoma. J Clin Endocrinol Metab 88: 5348-5343, 2003.
39. Gardner E, Mulligan LM, Eng C, Healey CS, Kwok JBJ and Ponder MA: Haplotype analysis of MEN 2 mutations. Hum Mol Genet 3: 1771-1774, 1994.
40. Gimm O, Neuberg DS, Marsh DJ, et al: Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation. Oncogene 18: 1369-1373, 1999.
41. McWhinney SR, Boru G, Binkley PK, Peczkowska M, Januszewicz AA, Neumann HP and Eng C: Intronic single nucleotide polymorphisms in the RET proto-oncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset. J Clin Endocrinol Metab 88: 4911-4916, 2003.
42. Fitze G, Appelt H, Konig IR, et al: Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR). Hum Mol Genet 12: 3207-3214, 2003. (Pubitemid 37541066)
43. Burzynski GM, Nolte IM, Osinga J, et al: Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2. Eur J Hum Genet 12: 604-612, 2004.