Clinical relevance of RET variants G691S, L769L, S836S and S904S to sporadic medullary thyroid cancer

Clinical Endocrinology

Volumn 76, Issue 5, 2012, Pages 691-697

  Machens, Andreas ^a   Frank Raue, Karin ^b   Lorenz, Kerstin ^a   Rondot, Susanne ^b   Raue, Friedhelm ^b   Dralle, Henning ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b Endocrine Practice   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; CANCER PATIENT; CANCER RISK; CONTROLLED STUDY; DISTANT METASTASIS; FEMALE; GENETIC VARIABILITY; GERM LINE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; LYMPH NODE METASTASIS; MAJOR CLINICAL STUDY; MALE; ONCOGENE RET; PRIORITY JOURNAL; PROTO ONCOGENE; THYROID MEDULLARY CARCINOMA; TUMOR VOLUME; WILD TYPE;

AMINO ACID SUBSTITUTION; ANALYSIS OF VARIANCE; CARCINOMA, MEDULLARY; FEMALE; GENE FREQUENCY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; KAPLAN-MEIER ESTIMATE; MALE; MIDDLE AGED; MUTATION, MISSENSE; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS;

EID: 84859647634     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2011.04293.x     Document Type: Article

References (18)

1. Machens, A., Lorenz, K. & Dralle, H. (2009) Constitutive RET tyrosine kinase activation in hereditary medullary thyroid cancer: clinical opportunities. Journal of Internal Medicine, 266, 114-125.
2. Kloos, R.T., Eng, C., Evans, D.B. et al. (2009) Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid, 19, 565-612.
3. Elisei, R., Cosci, B., Romei, C. et al. (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. (Pubitemid 38951937)
4. Ruiz, A., Antinolo, G., Fernández, R.M. et al. (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. (Pubitemid 32823050)
5. Siqueira, D.R., Romitti, M., da Rocha, A.P. et al. (2010) The RET polymorphic allele S836S is associated with early metastatic disease in patients with hereditary or sporadic medullary thyroid carcinoma. Endocrine-Related Cancer, 17, 953-963.
6. Sromek, M., Czetwertynska, M., Skasko, E. et al. (2010) The frequency of selected polymorphic variants of the RET gene in patients with medullary thyroid carcinoma and in the general population of central Poland. Endocrine Pathology, 21, 178-185.
7. Baumgartner-Parzer, S.M., Lang, R., Wagner, L. et al. (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. (Pubitemid 41606549)
8. Cebrian, A., Lesueur, F., Martin, S. 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. (Pubitemid 41606555)
9. Fugazzola, L., Muzza, M., Mian, C. et al. (2008) RET genotypes in sporadic medullary thyroid cancer: studies in a large Italian series. Clinical Endocrinology, 69, 418-425.
10. Berard, I., Kraimps, J.L., Savagner, F. et al. (2004) Germline sequence variants S836S and L769L in the REarranged during Transfection (RET) proto-oncogene are not associated with predisposition to sporadic medullary carcinoma in the French population. Clinical Genetics, 65, 150-152. (Pubitemid 38220117)
11. Costa, P., Domingues, R., Sobrinho, L.G. et al. (2005) RET polymorphisms and sporadic medullary thyroid carcinoma in a Portuguese population. Endocrine, 27, 239-243. (Pubitemid 41456739)
12. Machens, A., Lorenz, K. & Dralle, H. (2009) Individualization of lymph node dissection in RET (rearranged during transfection) carriers at risk for medullary thyroid cancer: value of pretherapeutic calcitonin levels. Annals of Surgery, 250, 305-310.
13. DeLellis, R.A., Lloyd, R.V., Heitz, P.U. et al. eds. (2004) World Health Organization Classification of Tumours: Pathology and Genetics of Tumours of Endocrine Organs. IARC Press, Lyon, France.
14. Colhoun, H.M., McKeigue, P.M. & Davey Smith, G. (2003) Problems of reporting genetic associations with complex outcomes. Lancet, 361, 865-872. (Pubitemid 36331853)
15. Kaplan, E.L. & Meier, P. (1958) Nonparametric estimation from incomplete observations. Journal of the American Statistical Association 53, 457-481.
16. Cardot-Bauters, C., Leteurtre, E., Leclerc, L. et al. (2008) Does the RET variant G691S influence the features of sporadic medullary thyroid carcinoma? Clinical Endocrinology, 69, 506-510.
17. Wacholder, S., Chanock, S., Garcia-Closas, M. et al. (2004) Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. Journal of the National Cancer Institute, 96, 434-442. (Pubitemid 38443646)
18. Hill, A.B. (1965) The environment and disease: association or causation? Proceedings of the Royal Society of Medicine, 58, 295.