RET genotypes in sporadic medullary thyroid cancer: Studies in a large Italian series

Clinical Endocrinology

Volumn 69, Issue 3, 2008, Pages 418-425

  Fugazzola, Laura ^a,b   Muzza, Marina ^b   Mian, Caterina ^c   Cordella, Daniela ^d   Barollo, Susi ^c   Alberti, Luisella ^d   Cirello, Valentina ^b   Dazzi, Davide ^b   Girelli, Maria Elisa ^c   Opocher, Giuseppe ^c,e   Beck Peccoz, Paolo ^a,b   Persani, Luca ^b,d  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^e VENETO INSTITUTE OF ONCOLOGY IOV IRCCS   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN RET;

ADULT; ANIMAL CELL; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; EXON; GENE FUNCTION; GENE LOCUS; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; ITALY; MAJOR CLINICAL STUDY; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID MEDULLARY CARCINOMA;

ANIMALS; CARCINOMA, MEDULLARY; CASE-CONTROL STUDIES; COHORT STUDIES; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; ITALY; MALE; MICE; MIDDLE AGED; NIH 3T3 CELLS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS;

EID: 49649106288     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2008.03218.x     Document Type: Article

References (29)

1. Eng, C. Mulligan, L.M. (1997) Mutations of the RET protooncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumors and Hirschsprung disease. Human Mutation, 9, 97 109.
2. Fitze, G., Schreiber, M., Kuhlish, E., Schackert, H.K. Roesner, D. (1999) Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease. American Journal of Human Genetics, 65, 1469 1473.
3. Borrego, S., Saez, M.E., Ruiz, A., Gimm, O., Gao, X., Lopez-Alonso, M., Hernandez, A., Wright, F.A., Antiñolo, G. Eng, C. (2000) RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. Journal of Medical Genetics, 37, 572 578.
4. Sangkhathat, S., Kusafuka, T., Chengkriwate, P., Patrapinyokul, S., Sangthong, B. Fukuzawa, M. (2006) Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients. Journal of Human Genetics, 51, 1126 1132.
5. Borrego, S., Saez, M.E., Ruiz, A., Gimm, O., Lopez-Alonzo Antinolo, 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. Journal of Medical Genetics, 36, 771 774.
6. Gimm, O., Neuberg, D.S., Marsh, D.J., Dahia, P.L.M., 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.
7. Berard, I., Kraimps, J.L., Savagner, F., Murat, A., Renaudin, K., Niccoli-Sire, P., Bertrand, G., Moisan, J.P. 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.
8. 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.
9. 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.
10. Baumgartner-Parzer, S.M., 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.
11. Wohllk, G., Soto, E.C., Bravo, M.A. Becker, P.C. (2005) G691S, L769L and S836S ret proto-oncogene polymorphisms are not associated with higher risk to sporadic medullary thyroid carcinoma in Chilean patients. Revista Médica de Chile, 133, 397 402.
12. Costa, P., Domingues, R., Sobrinho, L.G. Bugalho, M.J. (2005) RET polymorphisms and sporadic medullary thyroid carcinoma in a Portuguese population. Endocrine, 27, 239 243.
13. Gursoy, A., Erdogan, M.F. Erdogan, G. (2006) Significance of the RET proto-oncogene polymorphisms in Turkish sporadic medullary thyroid carcinoma patients. Journal of Endocrinological Investigations, 29, 858 862.
14. Cebrian, A., Lesueur, F., Martin, S., Leyland, J., Ahmed, S., Luccarini, C., Smith, P.L., Luben, R., Whittaker, J., Pharoah, P.D., Dunning, A.M. Ponder, B.A.J. (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.
15. Severskaia, N.V., Saenko, V.A., Il'in, A.A., Chebotareva, I.V., Rumiantsev, P.O., Isaev, P.A., Medvedev, V.S. Iasmita, S. (2006) RET and GFRA1 germline polymorphisms in medullary thyroid cancer patients. Molecular Biology (Moscow), 40, 425 435.
16. Fernandez, R.M., Pecina, A., Antinolo, G., Navarro, E. Borrego, S. (2006) Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma. Thyroid, 16, 411 417.
17. Ruiz, A., Antinolo, G., Fernandez, R.M., 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.
18. Robledo, M., Gil, L., Pollan, M., Cebrian, A., Ruiz, S., Azanedo, M., Benitez, J., Menarguez, J. Rojas, J.M. (2003) Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A. Cancer Research, 63, 1814 1817.
19. Wiench, M., Wygoda, Z., Gubala, E., Wloch, J., Lisowska, K., Krassowski, J., Scieglinska, D., Fiszer-Kierzkowska, A., Lange, D., Kula, D., Zeman, M., Roskosz, J., Kukulska, A., Krawczyk, Z. Jarzab, B. (2001) Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. Journal of Clinical Oncology, 19, 1374 1380.
20. Magalhaes, P.K.R., de Castro, M., Elias, L.L.K., Soares, E.G. Maciel, L.M.Z. (2004) Polymorphisms in the RET proto-oncogene and the phenotypic presentation of familial medullary thyroid carcinoma. Thyroid, 14, 848 852.
21. Fernandez, R.M., 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.
22. Fitze, G., Schierz, M., Kuhlisch, E., Schreiber, M., Ziegler, A., Roesner, D. Schackert, H.K. (2003) Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease. Human Mutation, 22, 177.
23. Fugazzola, L., Cerutti, N., Mannavola, D., Ghilardi, G., Alberti, L., Romoli, R. Beck-Peccoz, P. (2002) Multigenerational familial medullary thyroid cancer (FMTC): evidence for FMTC phenocopies and association with papillary thyroid cancer. Clinical Endocrinology, 56, 53 63.
24. Borrego, S., Wright, F.A., Fernandez, R.M., 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 Medical Genetics, 72, 88 100.
25. Jones, A.C., Austin, J., Hansen, N., Hoogendoorn, B., Oefner, P.J., Cheadle, J.P. O'Donovan, M.C. (1999) Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clinical Chemistry, 45, 1133 1140.
26. Borrello, M.G., Smith, D.P., Pasini, B., Bongarzone, I., Greco, A., Lorenzo, M.J., Arighi, E., Miranda, C., Eng, C., Alberti, L., Bocciardi, R., Modellini, P., Scopsi, L., Romeo, G., Ponder, B.A.J. Pierotti, M.A. (1995) RET activation by germline MEN 2A and MEN 2B mutations. Oncogene, 11, 2419 2427.
27. Cordella, D., Muzza, M., Alberti, L., Colombo, P., Travaglini, P., Beck-Peccoz, P., Fugazzola, L. Persani, L. (2006) An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinoma. Endocrine-Related Cancer, 13, 945 953.
28. Barrett, J.C., Fry, B., Maller, J. Daly, M.J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 21, 263 265.
29. Sawai, H., Okada, Y., Kazanjian, K., Kim, J., Hasan, S., Hines, O.J., Reber, H.A., Hoon, D.S. Eibl, G. (2005) The G691S RET polymorphism increases glial cell line-derived neurotrophic factor-induced pancreatic cancer cell invasion by amplifying mitogen-activated protein kinase signaling. Cancer Research, 65, 11536 11544.