The RET IVS1-126G>T Variant Is Strongly Associated with the Development of Sporadic Medullary Thyroid Cancer [2]

Thyroid

Volumn 14, Issue 4, 2004, Pages 329-331

  Fernández, Raquel M ^a   Robledo, Mercedes ^b   Antiñolo, Guillermo ^a   Peciña, Ana ^a   Ruiz Llorente, Sergio ^b   Eng, Charis ^c,d   Borrego, Salud ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b Structural Biology and Biocomputing Programme   (Spain)

^c OHIO STATE UNIVERSITY   (United States)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TYROSINE KINASE RECEPTOR;

CHROMOSOME 10Q; CONTROLLED STUDY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC PREDISPOSITION; HAPLOTYPE; HUMAN; LETTER; MAJOR CLINICAL STUDY; MULTIPLE ENDOCRINE NEOPLASIA; PRIORITY JOURNAL; PROTO ONCOGENE; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID CARCINOMA; THYROID MEDULLARY CARCINOMA;

BRAIN STEM NEOPLASMS; COHORT STUDIES; HUMANS; INTRONS; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; THYROID NEOPLASMS; VARIATION (GENETICS);

EID: 2342640283     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/105072504323031022     Document Type: Letter

References (14)

1. Raue F, Kotzerke J, Reinwein D, Schroder S, Roher HD, Deckart H, Hofer R, Ritter M, Seif F, Buhr H, Beyer J, Schober O, Becker W, Neumann H, Calvi J, Winter J, Vogt H 1993 Prognostic factors in medullary thyroid carcinoma: evaluation of 741 patients from the German Medullary Thyroid Carcinoma Register. Clin Invest 71:7-12.
2. Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, van Amstel HK, Lips CJ, 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, Nordenskjold 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.
3. Eng C 1999 RET proto-oncogene in the development of human cancer. J Clin Oncol 17:380-393.
4. Mulligan LM, Gardner E, Smith BA, Mathew CG, Ponder BA 1993 Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2. Genes Chromosomes Cancer 6:166-177.
5. Hofstra RM, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, Pasini B, Hoppener JW, van Amstel HK, Romeo G, Lips CJM, Buys CHCM 1994 A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 367:375-376.
6. 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.
7. Borrego S, Fernandez RM, Dziema H, Japon MA, Marcos I, Eng C, Antinolo G 2002 Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer. Thyroid 12:1017-1022.
8. Robledo M, Gil L, Pollán M, Cebrián A, Ruíz S, Azañedo M, Benitez J, Rojas, JM 2003 Polymorphisms G691S/S904S of RET as Genetic modifiers of MEN 2A. Cancer Res 63:1814-1817.
9. 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.
10. Ruiz A, Antinolo G, Fernández 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 55:399-402.
11. 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.
12. Griseri P, Pesce B, Patrone G, Osinga J, Puppa F, Sancandi M, Hofstra R, Romeo G, Ravazzolo R, Devoto M, Ceccherini I 2002 A rare haplotype of the RET proto-oncogene is a risk-modifying allele in Hirschsprung disease. Am J Hum Genet 71:969-974.
13. Borrego S, Wright FA, Fernández RM, Williams N, López-Alonso M, Davuluri R, Antiñolo 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.
14. Sambrook J, Fritsch EF, Maniatis T 1989 Molecular Cloning: A Laboratory Manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.