Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma

Thyroid

Volumn 16, Issue 4, 2006, Pages 411-417

  Fernández, Raquel M ^a   Peciña, Ana ^a   Antiñolo, Guillermo ^a   Navarro, Elena ^a   Borrego, Salud ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; ONCOGENE RET; PRIORITY JOURNAL; THYROID MEDULLARY CARCINOMA;

EID: 33646524510     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2006.16.411     Document Type: Article

References (18)

1. Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, Ploos van Amstel H K, Lips CJM, Nishisho I, Takai SI, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjöld M, Komminoth P, Hendy GN, Gharib H, Thibodeau SN, Lacroix A, Frilling A, Ponder BAJ, Mulligan LM 1996 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.
2. Gimm O, Dziema H, Brown J, Hoang-Vu C, Hinze R, Dralle H, Mulligan LM, Eng C 2001 Over-representation of a germline variant in the gene encoding RET co-receptor GFRalpha-1 but not GFRalpha-2 or GFRalpha-3 in cases with sporadic medullary thyroid carcinoma. Oncogene 20:2161-2170.
3. Gimm O, Neuberg DS, Marsh DJ, Dahia PL, Hoang-Vu C, Raue F, Hinze R, Dralle H, Eng C 1999 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.
4. Griseri P, Sancandi M, Patrone G, Bocciardi R, Hofstra R, Ravazzolo R, Devoto M, Romeo G, Ceccherini I 2000 A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease. Eur J Hum Genet 8:721-724.
5. Ruiz A, Antinolo G, Fernandez RM, Eng C, Marcos I, Borrego S 2001 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.
6. Borrego S, Wright FA, Fernandez RM, Williams N, Lopez-Alonso M, Davuluri R, Antinolo G, Eng C 2003 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.
7. Fernandez RM, Robledo M, Antiñolo G, Peciña A, Ruiz-Llorente S, Eng C, Borrego S 2004 The RET IVS1-126>T variant is strongly associated with the development of sporadic medullary thyroid cancer. Thyroid 14:329-331.
8. Fernandez RM, Boru G, Peciña A, Jones K, López-Alonso M, Antiñolo G, Borrego S, Eng C 2005 Ancestral RET haplotype associated with Hirschsprung disease shows linkage disequilibrium breakpoint at -1249. J Med Genet 42:322-327.
9. Fitze G, Appelt H, Konig IR, Gorgens H, Stein U, Walther W, Gossen M, Schreiber M, Ziegler A, Roesner D, Schackert HK 2003 Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR). Hum Mol Genet 12:3207-3214.
10. Burzynski GM, Nolte IM, Osinga J, Ceccherini I, Twigt B, Maas S, Brooks A, Verheij J, Menacho IP, Buys CH, Hofstra RM 2004 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.
11. Robledo M, Gil L, Pollan M, Cebrian A, Ruiz S, Azanedo M, Benitez J, Menarguez J, Rojas JM 2003 Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A. Cancer Res 63:1814-1817.
12. Elisei R, Cosci B, Romei C, Bottici V, Sculli M, Lari R, Barale R, Pacini F, Pinchera A 2004 RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population. J Clin Endocrinol Metab 89:3579-3584.
13. Borrego S, Saez ME, Ruiz A, Gimm O, Lopez-Alonso M, Antiñolo G, Eng C 1999 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.
14. Dracapoli NH, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DR 1994 Current Protocols in Human Genetics, Vol. 1. John Wiley & Sons, New York.
15. Ceccherini I, Hofstra RM, Luo Y, Stulp RP, Barone V, Stelwagen T, Bocciardi R, Nijveen H, Bolino A, Sen M 1994 DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene 9:3025-3029.
16. Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, Lopez-Alonso M, Hernandez A, Wright FA, Antiñolo G, Eng C 2000 RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet 37:572-578.
17. Eng C 1999 RET proto-oncogene in the development of human cancer. J Clin Oncol 17:380-393.
18. Bugalho MJ, Cote GJ, Khorana S, Schultz PN, Gagel RF 1994 Identification of a polymorphism in exon 11 of the RET protooncogene. Hum Mol Genet 3:2263.