Genetic predisposition to differentiated thyroid cancer among Polish population

What's newDespite the progress in elucidating the molecular mechanisms underlying differentiated thyroid cancer (DTC) thanks to genome sequencing, germline mutations responsible for genetic susceptibility to DTC are still poorly recognized.Since the genetic background predisposing to differentiated thyroid cancer may differ among populations, the aim of this study was to assess the prevalence of genetic germline mutations predisposing to the differentiated thyroid cancer in a cohort of Polish individuals, using whole genome analysis.To date, this is the first analysis harnessing whole-genome sequencing (WGS) data for the Slavic population -which accounts for over 4.5% of the world's inhabitants.The frequency of variants discovered in the Polish cohort (our study)genetic reference for the Slavic population -was compared to the variant frequency estimated for the non-Finnish European population obtained from the gnomAD database.The results show statistically significant variants in APC, MYH9, PALB2, PLCB1, PTEN, RET, STK11, and TERT genes.