The RET polymorphic allele S836S is associated with early metastatic disease in patients with hereditary or sporadic medullary thyroid carcinoma

Endocrine-Related Cancer

Volumn 17, Issue 4, 2010, Pages 953-963

  Siqueira, Débora R ^a   Romitti, Mírian ^a   Da Rocha, Andreia P ^a   Ceolin, Lucieli ^a   Meotti, Camila ^a   Estivalet, Aline ^a   Puñales, Marcia K ^a   Maia, Ana Luiza ^a  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; DISEASE ASSOCIATION; DISTANT METASTASIS; DNA POLYMORPHISM; FAMILIAL CANCER; FEMALE; GENE FREQUENCY; HUMAN; HYPERPARATHYROIDISM; LYMPH NODE METASTASIS; MAJOR CLINICAL STUDY; MALE; METASTASIS; ONCOGENE RET; PHEOCHROMOCYTOMA; THYROID MEDULLARY CARCINOMA;

ADOLESCENT; ADULT; ALLELES; CARCINOMA, MEDULLARY; DNA, NEOPLASM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KAPLAN-MEIER ESTIMATE; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPORTIONAL HAZARDS MODELS; PROTO-ONCOGENE PROTEINS C-RET; SEQUENCE ANALYSIS, DNA; THYROID NEOPLASMS; YOUNG ADULT;

EID: 78649841010     PISSN: 13510088     EISSN: 14796821     Source Type: Journal    
DOI: 10.1677/ERC-09-0312     Document Type: Article

References (40)

1. Baumgartner-Parzer SM, Lang R, Wagner L, Heinze G, Niederle B, Kaserer K, Waldhausl W & Vierhapper H 2005 Polymorphisms in exon 13 and intron 14 of the RET protooncogene: genetic modifiers of medullary thyroid carcinoma? Journal of Clinical Endocrinology and Metabolism 90 6232-6236. (doi:10.1210/jc.2005- 1278)
2. Berard I, Kraimps JL, Savagner F, Murat A, Renaudin K, Nicolli-Sire P, Bertrand G, Moisan JP & Bezieau S 2004 Germline-sequence variants S836S and L769L in the RE arranged during transfection (RET) proto-oncogene are not associated with predisposition to sporadic medullary carcinoma in the French population. Clinical Genetics 65 150-152. (doi:10.1111/j.0009-9163.2004.00172.x)
3. 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. American Journal of Human Genetics 72 88-100. (doi:10.1086/345466)
4. Brauckhoff M, Gimm O, Bilkenroth U, Hinze R & Dralle H 2002 Primary hyperparathyroidism, C-cell hyperplasia and papillary thyroid carcinoma in a patient with RET germline polymorphism S836S. Langenbeck's Archives of Surgery 387 201-203. (doi:10.1007/s00423-002-0321-y)
5. Cebrian A, Lesueur F, Martin S, Leyland J, Ahmed S, Luccarini C, Smith PL, Luben R, Whittaker J, Pharoah PD et al. 2005 Polymorphisms in the initiators of RET (rearranged during transfection) signaling pathway and susceptibility to sporadic medullary thyroid carcinoma. Journal of Clinical Endocrinology and Metabolism 90 6268-6274. (doi:10.1210/jc.2004-2449) (Pubitemid 41606555)
6. Costa P, Domingues R, Sobrinho LG & Bugalho MJ 2005 RET polymorphisms and sporadic medullary thyroid carcinoma in a Portuguese population. Endocrine 27 239-243. (doi:10.1385/ENDO:27:3:239)
7. 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. Journal of Clinical Endocrinology and Metabolism 89 3579-3584. (doi:10.1210/jc.2003- 031898)
8. Elisei R, Cosci B, Romei C, Bottici V, Renzini G, Molinaro E, Agate L, Vivaldi A, Faviana P, Basolo F et al. 2008 Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study. Journal of Clinical Endocrinology and Metabolism 93 682-687. (doi:10.1210/jc.2007-1714)
9. Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, van Amstel HK, Lips CJ, Nishisho I, Takai SI et al. 1996 The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. Journal of the American Medical Association 276 1575-1579. (doi:10.1001/jama. 276.19.1575)
10. Fernandez RM, Robledo M, Antinolo G, Pecina A, Ruiz-Llorente S, Eng C & Borrego S 2004 The RET IVS1-126G>T variant is strongly associated with the development of sporadic medullary thyroid cancer. Thyroid 14 329-331. (doi:10.1089/1050725043230 31022)
11. Fernandez RM, Navarro E, Antinolo G, Ruiz-Ferrer M & Borrego S 2006a 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 17 575-581.
12. Fernandez RM, Pecina A, Antinolo G, Navarro E & Borrego S 2006b Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma. Thyroid 16 411-417. (doi:10.1089/thy.2006.16.411)
13. Gil L, Azanedo M, Pollan M, Cristobal E, Arribas B, Garcia- Albert L, Garcia-Saiz A, Maestro ML, Torres A, Menarguez J et al. 2002 Genetic analysis of RET, GFR alpha 1 and GDNF genes in Spanish families with multiple endocrine neoplasia type 2A. International Journal of Cancer 99 299-304. (doi:10.1002/ijc.10298)
14. Gimm O, Neuberg DS, Marsh DJ, Dahia PL, Hoang-Vu C, Raue F, Hinze R, Dralle H & Eng C 1999 Overrepresentation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation. Oncogene 18 1369-1373. (doi:10.1038/sj.onc.1202418)
15. 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 protooncogene is underrepresented in sporadic Hirschsprung disease. European Journal of Human Genetics 8 721-724. (doi:10.1038/sj.ejhg. 5200521)
16. Guerrero IM, Pessoa CH, Olmedo DB, Pontes ER, Matos LC, Tilli TM, Barcinski MA & Gimba ER 2006 Analysis of inherited genetic variants in ret proto-oncogene of Brazilian patients with apparently sporadic medullary thyroid carcinoma. Thyroid 16 9-15. (doi:10.1089/thy. 2006.16.9)
17. Kouvaraki MA, Shapiro SE, Perrier ND, Cote GJ, Gagel RF, Hoff AO, Sherman SI, Lee JE & Evans DB 2005 RET proto-oncogene: a review and update of genotype - phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors. Thyroid 15 531-544. (doi:10.1089/thy.2005.15.531)
18. Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, Hamilton SR, Hampel H, Markowitz A, Klimstra D et al. 1997 Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nature Genetics 17 79-83. (doi:10.1038/ng0997-79)
19. Lesueur F, Cebrian A, Robledo M, Niccoli-Sire P, Svensson KA, Pinson S, Leyland J, Whittaker J, Pharoah PD & Ponder BA 2006 Polymorphisms in RET and its coreceptors and ligands as genetic modifiers of multiple endocrine neoplasia type 2A. Cancer Research 66 1177-1180. (doi:10.1158/0008-5472.CAN-05- 2995)
20. Lu H & Huan C 2007 Transcription factor NFAT, its role in cancer development, and as a potential target for chemoprevention. Current Cancer Drug Targets 7 343-353. (doi:10.2174/156800907780809750)
21. Machens A, Gimm O, Hinze R, Hoppner W, Boehm BO & Dralle H 2001 Genotype - phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties. Journal of Clinical Endocrinology and Metabolism 86 1104-1109. (doi:10. 1210/jc.86.3.1104)
22. Machens A, Niccoli-Sire P, Hoegel J, Frank-Raue K, van Vroonhoven TJ, Roeher HD, Wahl RA, Lamesch P, Raue F, Conte-Devolx B et al. 2003 Early malignant progression of hereditary medullary thyroid cancer. New England Journal of Medicine 349 1517-1525. (doi:10.1056/NEJMoa012915)
23. Magalhaes PK, de Castro M, Elias LL, Soares EG & Maciel LM 2004 Polymorphisms in the RET proto-oncogene and the phenotypic presentation of familial medullary thyroid carcinoma. Thyroid 14 848-852. (doi:10.1089/thy.2004. 14.848)
24. Marsh DJ, Learoyd DL, Andrew SD, Krishnan L, Pojer R, Richardson AL, Delbridge L, Eng C & Robinson BG 1996 Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma. Clinical Endocrinology 44 249-257. (doi:10.1046/j.1365-2265.1996.681503.x)
25. Milos IN, Frank-Raue K, Wohllk N, Maia AL, Pusiol E, Patocs A, Robledo M, Biarnes J, Barontini M, Links TP et al. 2008 Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation. Endocrine-Related Cancer 15 1035-1041. (doi:10.1677/ERC-08-0105)
26. Moura MM, Cavaco BM, Pinto AE, Domingues R, Santos JR, Cid MO, Bugalho MJ & Leite V 2009 Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas. British Journal of Cancer 100 1777-1783. (doi:10.1038/sj.bjc. 6605056)
27. O'Sullivan B & Shah J 2003 New TNM staging criteria for head and neck tumors. Seminars in Surgical Oncology 21 30-42. (doi:10.1002/ssu.10019)
28. Patocs A, Valkusz Z, Igaz P, Balogh K, Toth M, Varga I & Racz K 2003 Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer. Clinical Genetics 63 219-223. (doi:10.1034/j.1399-0004.2003.00044.x)
29. Ponder BA 1999 The phenotypes associated with ret mutations in the multiple endocrine neoplasia type 2 syndrome. Cancer Research 59 1736s-1741s (discussion 1742s).
30. Punales MK, Graf H, Gross JL & Maia AL 2003 RET codon 634 mutations in multiple endocrine neoplasia type 2: variable clinical features and clinical outcome. Journal of Clinical Endocrinology and Metabolism 88 2644-2649. (doi:10.1210/jc.2002-021422)
31. Punales MK, da Rocha AP, Meotti C, Gross JL & Maia AL 2008 Clinical and oncological features of children and young adults with multiple endocrine neoplasia type 2A. Thyroid 18 1261-1268. (doi:10.1089/thy.2007.0414)
32. 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 Research 63 1814-1817.
33. Rocha AP, Magalhaes PK, Maia AL & Maciel LM 2007 Genetic polymorphisms: implications in the pathogenesis of medullary thyroid carcinoma. Arquivos Brasileiros de Endocrinologia e Metabologia 51 723-730. (doi:10.1590/S0004-27302007000500009)
34. 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. Clinical Endocrinology 55 399-402. (doi:10.1046/j.1365-2265.2001. 01328.x)
35. Severskaya NV, Saenko VA, Ilyin AA, Chebotareva IV, Rumyantsev PO, Isaev PA, Medvedev VS & Yamashita S 2010 Germline polymorphisms of RET and GFRA1 genes in patients with medullary thyroid carcinoma. Molecular Biology 40 375-384. (doi:10.1134/S0026893306030046)
36. Tamanaha R, Camacho CP, Pereira AC, da Silva AM, Maciel RM & Cerutti JM 2009 Evaluation of RET polymorphisms in a six-generation family with G533C RET mutation: specific RET variants may modulate age at onset and clinical presentation. Clinical Endocrinology 71 56-64. (doi:10.1111/j.1365-2265.2008. 03491.x)
37. Wiench M, Wygoda Z, Gubala E, Wloch J, Lisowska K, Krassowski J, Scieglinska D, Fiszer-Kierzkowska A, Lange D, Kula D et al. 2001 Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. Journal of Clinical Oncology 19 1374-1380.
38. Wiench M, Wloch J, Wygoda Z, Gubala E, Oczko M, Pawlaczek A, Kula D, Lange D & Jarzab B 2004 RET polymorphisms in codons 769 and 836 are not associated with predisposition to medullary thyroid carcinoma. Cancer Detection and Prevention 28 231-236. (doi:10. 1016/j.cdp.2004.04.002)
39. Wohllk N, Soto E, Bravo M & Becker P 2005 Polimorfismos G691S, L769L y S836S del proto-oncogene RET no se associan a mayor riesgo de cancer medular tiroideo esporádico en pacientes chilenos. Revista Mèdica de Chile 133 397-402. (doi:10.4067/S0034-98872005000 400001)
40. Zedenius J, Larsson C, Bergholm U, Bovee J, Svensson A, Hallengren B, Grimelius L, Backdahl M, Weber G & Wallin G 1995 Mutations of codon 918 in the RET protooncogene correlate to poor prognosis in sporadic medullary thyroid carcinomas. Journal of Clinical Endocrinology and Metabolism 80 3088-3090. (doi:10. 1210/jc.80.10.3088)