The involvement of the RET variant G691S in medullary thyroid carcinoma enlightened by a meta-analysis study

International Journal of Cancer

Volumn 132, Issue 12, 2013, Pages 2808-2819

  Lantieri, Francesca ^a   Caroli, Francesco ^b   Ceccherini, Isabella ^b   Griseri, Paola ^b  

^a UNIVERSITY OF GENOA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

Author keywords

association study; meta analysis; MTC; RET; SNP

Indexed keywords

GLYCINE; MESSENGER RNA; PROTEIN RET; SERINE;

ADOLESCENT; ADULT; AGED; ARTICLE; CARCINOGENESIS; CHILD; COMPUTER MODEL; CONTROLLED STUDY; ETHNIC GROUP; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; ONCOGENE RET; PRIORITY JOURNAL; SCHOOL CHILD; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID MEDULLARY CARCINOMA;

ALLELES; CASE-CONTROL STUDIES; COMPUTATIONAL BIOLOGY; GENE FREQUENCY; GENES, RECESSIVE; GENOTYPE; HUMANS; POLYMORPHISM, GENETIC; PROTO-ONCOGENE PROTEINS C-RET; SEX FACTORS; THYROID NEOPLASMS;

EID: 84876140902     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.27967     Document Type: Article

References (49)

1. Hung RJ, McKay JD, Gaborieau V, et al. A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. Nature 2008; 452: 633-7.
2. Wang H, Jin G, Liu G, et al. Genetic susceptibility of lung cancer associated with common variants in the 3′ untranslated regions of the adenosine triphosphate-binding cassette B1 (ABCB1) and ABCC1 candidate transporter genes for carcinogen export. Cancer 2009; 115: 595-607.
3. Easton DF, Pooley KA, Dunning AM, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007; 447: 1087-93.
4. Houlston RS, Cheadle J, Dobbins SE, et al. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet 2010; 42: 973-7.
5. Takata R, Akamatsu S, Kubo M, et al. Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. Nat Genet 2010; 42: 751-4.
6. Elisei R, Cosci B, Romei C, et al. Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study. J Clin Endocrinol Metab 2008; 93: 682-7.
7. Schulten HJ, Al-Maghrabi J, Al-Ghamdi K, et al. Mutational Screening of RET, HRAS, KRAS, NRAS, BRAF, AKT1, and CTNNB1 in Medullary Thyroid Carcinoma. Anticancer Res 2011; 31: 4179-83.
8. Moura MM, Cavaco BM, Pinto AE, et al. High prevalence of RAS mutations in RET-negative sporadic medullary thyroid carcinomas. J Clin Endocrinol Metab 2011; 96: E863-8.
9. Emison ES, Garcia-Barcelo M, Grice EA, et al. Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet 2010; 87: 60-74.
10. Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet 2008; 45: 1-14.
11. Lantieri F, Griseri P, Puppo F, et al. Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles. Ann Hum Genet 2006; 70: 12-26.
12. Cebrian A, Lesueur F, Martin S, et al. Polymorphisms in the initiators of RET (rearranged during transfection) signaling pathway and susceptibility to sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab 2005; 90: 6268-74.
13. Elisei R, Cosci B, Romei C, et al. RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population. J Clin Endocrinol Metab 2004; 89: 3579-84.
14. Costa P, Domingues R, Sobrinho LG, et al. RET polymorphisms and sporadic medullary thyroid carcinoma in a Portuguese population. Endocrine 2005; 27: 239-43.
15. Robledo M, Gil L, Pollán M, et al. Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A. Cancer Res 2003; 63: 1814-7.
16. Cardot-Bauters C, Leteurtre E, Leclerc L, et al. Does the RET variant G691S influence the features of sporadic medullary thyroid carcinoma? Clin Endocrinol (Oxf) 2008; 69: 506-10.
17. Fugazzola L, Muzza M, Mian C, et al. RET genotypes in sporadic medullary thyroid cancer: studies in a large Italian series. Clin Endocrinol (Oxf) 2008; 69: 418-25.
18. Fernández RM, Peciña A, Antiñolo G, et al. Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma. Thyroid 2006; 16: 411-7.
19. Baumgartner-Parzer SM, Lang R, Wagner L, et al. Polymorphisms in exon 13 and intron 14 of the RET protooncogene: genetic modifiers of medullary thyroid carcinoma? J Clin Endocrinol Metab 2005; 90: 6232-6.
20. Wohllk GN, Soto CE, Bravo AM, et al. [G691S, L769L and S836S ret proto-oncogene polymorphisms are not associated with higher risk to sporadic medullary thyroid carcinoma in Chilean patients]. Rev Med Chil 2005; 133: 397-402.
21. Gimm O, Greco A, Hoang-Vu C, et al. Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma. J Clin Endocrinol Metab 1999; 84: 2784-7.
22. Siqueira DR, Romitti M, da Rocha AP, et al. The RET polymorphic allele S836S is associated with early metastatic disease in patients with hereditary or sporadic medullary thyroid carcinoma. Endocr Relat Cancer 2010; 17: 953-63.
23. Tamanaha R, Camacho CP, Pereira AC, et al. Evaluation of RET polymorphisms in a six-generation family with G533C RET mutation: specific RET variants may modulate age at onset and clinical presentation. Clin Endocrinol (Oxf) 2009; 71: 56-64.
24. Weinhaeusel A, Scheuba C, Lauss M, et al. The influence of gender, age, and RET polymorphisms on C-cell hyperplasia and medullary thyroid carcinoma. Thyroid 2008; 18: 1269-76.
25. Gursoy A, Erdogan MF, Erdogan G,. Significance of the RET proto-oncogene polymorphisms in Turkish sporadic medullary thyroid carcinoma patients. J Endocrinol Invest 2006; 29: 858-62.
26. Lesueur F, Cebrian A, Robledo M, et al. Polymorphisms in RET and its coreceptors and ligands as genetic modifiers of multiple endocrine neoplasia type 2A. Cancer Res 2006; 66: 1177-80.
27. Narita N, Tanemura A, Murali R, et al. Functional RET G691S polymorphism in cutaneous malignant melanoma. Oncogene 2009; 28: 3058-68.
28. Sawai H, Okada Y, Kazanjian K, et al. The G691S RET polymorphism increases glial cell line-derived neurotrophic factor-induced pancreatic cancer cell invasion by amplifying mitogen-activated protein kinase signaling. Cancer Res 2005; 65: 11536-44.
29. Barrett JC, Fry B, Maller J, et al. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263-5.
30. Schwarzer G,. meta: Meta-Analysis with R, ed. R package version 1.6-1, 2010.
31. Mantel N, Haenszel W,. Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst 1959; 22: 719-48.
32. DerSimonian R, Laird N,. Meta-analysis in clinical trials. Control Clin Trials 1986; 7: 177-88.
33. Higgins JP, Thompson SG, Deeks JJ, et al. Measuring inconsistency in meta-analyses. BMJ 2003; 327: 557-60.
34. Begg CB, Mazumdar M,. Operating characteristics of a rank correlation test for publication bias. Biometrics 1994; 50: 1088-101.
35. Egger M, Davey Smith G, Schneider M, et al. Bias in meta-analysis detected by a simple, graphical test. BMJ 1997; 315: 629-34.
36. Sunyaev S, Ramensky V, Koch I, et al. Prediction of deleterious human alleles. Hum Mol Genet 2001; 10: 591-7.
37. Ng PC, Henikoff S,. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31: 3812-4.
38. Cartegni L, Wang J, Zhu Z, et al. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003; 31: 3568-71.
39. Reese MG, Eeckman FH, Kulp D, et al. Improved splice site detection in Genie. J Comput Biol 1997; 4: 311-23.
40. Bugalho MJ, Cote GJ, Khorana S, et al. Identification of a polymorphism in exon 11 of the RET protooncogene. Hum Mol Genet 1994; 3: 2263.
41. Severskaia NV, Saenko VA, Il'in AA, et al. [RET and GFRA1 germline polymorphisms in medullary thyroid cancer patients]. Mol Biol (Mosk) 2006; 40: 425-35.
42. Morandi A, Plaza-Menacho I, Isacke CM,. RET in breast cancer: functional and therapeutic implications. Trends Mol Med 2011; 17: 149-57.
43. Gil L, Azañedo M, Pollán 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 2002; 99: 299-304.
44. Maruna P, Duskova J, Limanova Z, et al. Mixed medullary and follicular cell carcinoma of the thyroid in a 71-year-old man with history of malignant melanoma. Med Sci Monit 2008; 14: CS31-6.
45. Poturnajova M, Altanerova V, Kostalova L, et al. Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome. J Mol Med (Berl) 2005; 83: 287-95.
46. Mavaddat N, Antoniou AC, Easton DF, et al. Genetic susceptibility to breast cancer. Mol Oncol 2010; 4: 174-91.
47. Borrello MG, Aiello A, Peissel B, et al. Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism. Endocr Relat Cancer 2011; 18: 519-27.
48. Mograbi B, Bocciardi R, Bourget I, et al. The sensitivity of activated Cys Ret mutants to glial cell line-derived neurotrophic factor is mandatory to rescue neuroectodermic cells from apoptosis. Mol Cell Biol 2001; 21: 6719-30.
49. Borgarzone I, Vigano E, Alberti L, et al. Full activation of MEN2B mutant RET by an additional MEN2A mutation or by ligand GDNF stimulation. Oncogene 1998; 16: 2295-301.