Searchable abstracts of presentations at key conferences in endocrinology

ea0011p785 | Thyroid | ECE2006

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

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

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 a...

ea0040p7 | (1) | ESEBEC2016

The genetic screening of RET proto-oncogene in Polish population during the past two decades

Oczko-Wojciechowska Małgorzata , Sromek Maria , Pawlaczek Agnieszka , Czetwertyńska Małgorzata , Kula Dorota , Żebracka-Gala Jadwiga , Rusinek Dagmara , Kowal Monika , Gubała Elżbieta , Szpak-Ulczok Sylwia , Gawlik Tomasz , Zub Renata , Tyszkiewicz Tomasz , Cyplińska Renata , Hasse-Lazar Kornelia , Wygoda Zbigniew , Krajewska Jolanta , Wiench Małgorzata , Dedecjus Marek , Jarzęb Barbara

Introduction: Gain of function mutations of RET protooncogene are associated with hereditary medullary thyrpoid cancer. There are mainly specific hot-spot RET gene mutations however they may differ between population.Aim of the study: In this study we report the prevalence of RET mutations in Polish population based on 20 years of experience of referral polish centers.Material and methods: RET ge...