| Author/Editor | Glavač, Damjan; Korošec, Branka; Bergant, Damijan; Hočevar, Marko | |
| Title | Molecular diagnostics of multiple endocrine neoplasia type 2 (MEN II) | |
| Translated title | Molekularna diagnostika dednih endokrinopatij MEN II - naše 10 letne izkušnje | |
| Type | članek | |
| Source | In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta, | |
| Publication year | 2005 | |
| Volume | str. 185-91 | |
| Language | eng | |
| Abstract | Genetic testing for the RET-protooncogene germline mutation showed almost 100°/ sensitivity and specificity for identifying those at risk of developing inherited medullary thyroid cancer (multiple endocrine neoplasia (MEN) 2A, MEN 2B, or familial medullary thyroid carcinoma (FMTC)). Presymptomatic detection of mutations and prophylactic surgical intervention are now the accepted standard of care. In 1996 we introduced a proposal for genetic screening of Slovenian patients with the hereditary form of MTC, and their relatives. Consequently, we have to date identified by genetic analysis 30 carriers of the RET protooncogene mutation among 145 Slovenian MTC patients and their relatives: 15 with codon 634. 9 with codon 618, 5 with codon 790 and one with codon 918 mutation of the RET oncogene, respectively. Genotype - phenotype correlation revealed MEN 2A in 15 patients, FMT in 14 patients and the MEN 2B phenotype in one patient, respectively. The standard treatment was total thyroidectomy, which was performed in 28 patients, while 2 patients rejected any therapy. Use of genetic assay allows earlier and more definite identification and clinical management of those with a familial risk of medullary thyroid cancer in comparison to the standard monitoring used previously. | |
| Descriptors | MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B POLYMORPHISM (GENETICS) POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL |