Double Germline Mutations in the RET Proto-oncogene in MEN 2A and MEN 2B Kindreds
| Autor: | Jaroslava Dušková, V. Holub, B. Bendlova, E. Vaclavikova, J. Cap, S. Dvorakova, Ales Ryska, Daniela Kodetova, Z. Novak, Petr Vlcek |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Adult
Male Adolescent endocrine system diseases Endocrinology Diabetes and Metabolism Multiple Endocrine Neoplasia Type 2a Multiple Endocrine Neoplasia Type 2b Biology RET proto-oncogene medicine.disease_cause Proto-Oncogene Mas Germline Cohort Studies Exon Endocrinology Germline mutation Internal Medicine medicine Humans Thyroid Neoplasms Multiple endocrine neoplasia Thyroid cancer Alleles Germ-Line Mutation Genetics Mutation Proto-Oncogene Proteins c-ret Exons General Medicine Middle Aged medicine.disease Pedigree Amino Acid Substitution Medullary carcinoma Female |
| Zdroj: | Experimental and Clinical Endocrinology & Diabetes. 114:192-196 |
| ISSN: | 1439-3646 0947-7349 |
| DOI: | 10.1055/s-2006-924071 |
| Popis: | Medullary thyroid carcinoma (MTC) is a rare form of thyroid cancer representing about 10% of all thyroid malignancies. It occurs mostly as a sporadic tumor or in association with autosomal dominant inherited cancer syndromes - multiple endocrine neoplasia (MEN) types 2A and 2B and familial MTC. Germline mutations in exons 8, 10, 11, 13, 14, 15 and 16 of the RET proto-oncogene are found in most of the familial cases. There are only a few published data reporting multiple germline mutations in the RETproto-oncogene. We have detected double germline mutations in 2 different exons on the same RET allele in two MEN 2 families. In the MEN 2A family, double germline mutation in exons 10 (Cys620Phe) and 13 (Tyr791Phe) was detected. In the MEN 2B family, beside the classical germline mutation in exon 16 (Met918Thr) a second germline mutation in exon 13 (Tyr791-Phe) was found. This study revealed that MEN 2 syndromes can also be caused by double germline mutations in the RET proto-oncogene and these families can be added to a small worldwide cohort of families with multiple germline mutations. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|