VSE knjižnice (vzajemna bibliografsko-kataložna baza podatkov COBIB.SI)
  • The development of rapid and accurate screening test for RET hotspot somatic and germline mutations in MEN2 syndromes
    Zupan, Andrej, 1981- ; Glavač, Damjan
    Medullary thyroid carcinoma (MTC) is a rare endocrine malignancy with distinctive features separating it from other thyroid cancers. Cancer may be sporadic or occur as a consequence of the hereditary ... syndrome called multiple endocrine neoplasia type 2 (MEN2) with three distinct phenotypes in MEN2A, MEN2B and FMTC. Each variant of MEN 2 results from different RET gene mutation, with a good genotype-phenotype correlation. Goal of the study was to develop a fast and accurate screening method for a reliable detection of hot-spot RET germline and sporadic tumor mutations. From a cohort of 191 patients with MTC and their relatives, 38 tested positive and 31 tested negative for a germline or somatic tumor RET mutation were selected. A positive HRM mutation pattern was detected in all mutation-positive patients and altogether the method was able to clearly differentiate between twenty different genotypes. A novel germline variant p.Ala639Thr was detected in MTC patient, which was determined to be likely benign. Analytical specificity was determined to be 98.6% and a sensitivity threshold was determined to be 30%. The fast and accurate HRM method reduces the turnaround time providing fast and important information, especially when targeted anti-tyrosine kinase therapy on tumor samples is considered. Overall, we developed a high-throughput, accurate and cost-effective approach for the detection of RET germline and sporadic tumor mutations.
    Vir: Experimental and molecular pathology. - ISSN 0014-4800 (Vol. 99, iss. 3, Aug. 2015, str. 416-425)
    Vrsta gradiva - članek, sestavni del
    Leto - 2015
    Jezik - angleški
    COBISS.SI-ID - 32156377
    DOI

vir: Experimental and molecular pathology. - ISSN 0014-4800 (Vol. 99, iss. 3, Aug. 2015, str. 416-425)
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