The Occurrence and the Type of Germline Mutations in theRETGene in Patients with Medullary Thyroid Carcinoma and Their Unaffected Kindred's from Central Poland

Autor:	Z. Paszko, D. Czapczak, A. Wisniewska, I. Kozlowicz-Gudzinska, A. Jagielska, Andrzej Prokurat, E. Skasko, M. Sromek, Małgorzata Chrupek, M. Czetwertynska
Rok vydání:	2007
Předmět:	Adult Male Cancer Research Adolescent endocrine system diseases Population Biology medicine.disease_cause Thyroid carcinoma Pheochromocytoma Exon Germline mutation Carcinoma medicine Humans Thyroid Neoplasms Child Codon education Germ-Line Mutation Aged Genetics Mutation education.field_of_study Proto-Oncogene Proteins c-ret Kidney Carcinoma General Medicine Middle Aged medicine.disease Oncology Carcinoma Medullary Female Follow-Up Studies
Zdroj:	Cancer Investigation. 25:742-749
ISSN:	1532-4192 0735-7907
DOI:	10.1080/07357900701518735
Popis:	We aimed to investigate the occurrence and types of pathogenic mutations in the RET gene in patients with MTC of the Central Poland population and in their relatives. DNA was extracted from the peripheral blood lymphocytes of a total of 330 persons, including 235 MTC patients and 95 of their unaffected kindred's. Exons 10, 11, 13, 14, 15 and 16 of the RET gene were amplified by PCR and sequenced. Sixty-seven people were found to carry pathogenic, germline mutations in the RET gene. In exon 10, C609F, C609R and C609Y (3 families), C618G, C618F (2 families), and C620G (4 families) mutations were identified. In exon 11, C634R (8 families) and C649L mutations (1 patient) were found. Five families carried Y791F mutation in exon 13. One patient with PTC revealed the presence of a Y791F mutation. In 3 families, exon 14 of the RET gene harbored the following mutations: V804L (1 patient), E819K (1 patient) and R844Q (1 patient). In 1 family, the S891A mutation was identified in exon 15, 3 families were found to carry mutations in exon16, R912P in 1 family and M918T in 2 families. In summary, of the 235 patients affected by MTC, 46 (19.6%) carried pathogenic RET gene mutations, 1 patient with RET mutation had kidney carcinoma, and 1 had PTC. The results show the occurrence of a variety of mutations prevalent in patients with MTC in the population of Central Poland. These results may contribute to a better diagnosis of medullary thyroid carcinoma.
Databáze:	OpenAIRE
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