Endocrine Abstracts (2006) 11 P785

Pathogenic mutations in gene RET in patients with medullary thyroid carcinoma found in Polish population

Z Paszko, M Sromek, M Czetwertynska, D Czapczak, A Wisniewska, E Skasko, I Kozlowicz-Gudzinska, A Prokurat & M Chrupek


The Maria Sklodowska-Curie Memorial Cancer Center, Warsaw, Poland.


Aim: The aim of this paper is to summarise the seven’s years of investigations on the frequency and kind of mutations witch occurred in gene RET in patients with medullary thyroid cancer.

Methods: Within 330 subjects studied, there were 235 patients with RRT and 95 their healthy relatives. DNA was isolated from peripheral blood lymphocytes. The following exons of the gene RET were amplified by the PCR method: 10, 11, 13, 14, 15 and 16 and then they were subjected to direct sequencing.

Results: Pathogenic mutations found in gene RET.

No.DiagnosisExonCodonNumber of subjects
1FMTC10609,618,62026 (38.8%)
2FMTC/MEN2A11634,64919 (28.3%)
3FMTC1379114 (20.9%)
4FMTC14804,819,8443 (4.5%)
5FMTC158912 (3.0%)
6FMTC/MEN2B16912,9183 (4.5%)

Conclusions: There were 46 patients with RRT, 1 with Adenocarcinoma Renis, 1 with PTC and 19 healthy relatives within 67 patients with mutation in gene RET. The most frequent mutations were found in codons 620 (23.9%), 634 (26.8%) and 791 (20.9%). Additionally a few new mutations were found: TGC 609 TTC (Cys/Phe), GAG 819 AAG (Glu/Lys), CGG 844 CAG (Arg/Gln), CGG 912 CCG (Arg/Pro) in gene RET.

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