Investigation of loss of heterozygosity and SNP frequencies in the RET gene in papillary thyroid carcinoma.
Thyroid
; 15(2): 100-4, 2005 Feb.
Article
em En
| MEDLINE
| ID: mdl-15753666
ABSTRACT
In both medullary carcinoma and papillary carcinoma of the thyroid, altered expression of the RET gene is implicated in tumorigenesis. Recent studies suggest that loss of heterozygosity (LOH) at the G691S SNP may be associated with tumors from patients with a history of radiation exposure. We investigated LOH for three RET SNPs (G691S, S904S, and L769L) in tumor and normal tissue from 46 patients from Ukraine and Belarus who were exposed to radioactive fallout following the Chernobyl nuclear accident and were operated for papillary thyroid carcinoma between 1995 and 2000. Normal tissue from 28 patients was heterozygous for at least one SNP; DNA from the corresponding tumor samples was also heterozygous, indicating that no LOH had taken place. To assess SNP frequencies in a radiation-associated thyroid cancer cohort, we investigated a further 68 unpaired post-Chernobyl samples. For G691S, there was considerable deviation from Hardy-Weinberg equilibrium; more detailed analysis showed that this was linked to age at onset of disease. Among younger patients, the distribution of genotypes conformed to Hardy-Weinberg equilibrium; among older patients, we observed marked deviation (p = 0.0072), with significant over-representation of the rare S allele relative to the younger groups (Fisher's exact, p = 0.0233). This suggests that SNPs in the RET oncogene may play a role in sporadic papillary thyroid carcinoma.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias da Glândula Tireoide
/
Carcinoma Papilar
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Proteínas Oncogênicas
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Receptores Proteína Tirosina Quinases
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Perda de Heterozigosidade
/
Polimorfismo de Nucleotídeo Único
/
Neoplasias Induzidas por Radiação
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Aged
/
Child
/
Humans
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Thyroid
Assunto da revista:
ENDOCRINOLOGIA
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Reino Unido