The Frequency of Selected Polymorphic Variants of the RET Gene in Patients with Medullary Thyroid Carcinoma and in the General Population of Central Poland
| Autor: | Dorota Czapczak, Jan Steffen, Maria Sromek, Małgorzata Czetwertyńska, Elzbieta Skasko, Joanna Zielinska |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
medicine.medical_specialty Adolescent endocrine system diseases Medullary cavity Endocrinology Diabetes and Metabolism Population Single-nucleotide polymorphism Biology medicine.disease_cause Polymerase Chain Reaction Polymorphism Single Nucleotide Proto-Oncogene Mas Pathology and Forensic Medicine Thyroid carcinoma Young Adult Endocrinology Polymorphism (computer science) Internal medicine medicine Humans SNP Genetic Predisposition to Disease Thyroid Neoplasms Age of Onset education Aged Aged 80 and over education.field_of_study Mutation Base Sequence Proto-Oncogene Proteins c-ret General Medicine Middle Aged Carcinoma Medullary Poland Age of onset |
| Zdroj: | Endocrine Pathology. 21:178-185 |
| ISSN: | 1559-0097 1046-3976 |
| DOI: | 10.1007/s12022-010-9125-8 |
| Popis: | The object of this work was to compare the frequency of three polymorphic changes in the RET proto-oncogene: L769L, S836S, and S904S in patients with medullary thyroid carcinoma (MTC; n = 246) and in the general population (n = 420 for single-nucleotide polymorphism [SNP] L769L and S904S; n = 411 for SNP 836). We tried to investigate how the harbored SNPs affect the age at onset of sporadic medullary thyroid carcinoma (sMTC) and MTC in carriers of known pathogenic mutations at codons 634 and 791 of the RET gene. A statistically significant difference was found in the frequency of the heterozygous change L769L in patients with sMTC (48.3%) and in unaffected individuals (39.5%). The presence of the polymorphic change L769L in the RET gene predisposes to the development of sMTC and also lowers the age of onset of MTC in carriers of the homozygous polymorphic variant L769L. The presence of this polymorphic change in MTC patients carrying, at the same time, the RET codon 634 mutation lowers the age of onset of MTC in this group. |
| Databáze: | OpenAIRE |
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