Genetic variation in POT1 and risk of thyroid subsequent malignant neoplasm: A report from the Childhood Cancer Survivor Study.
Melissa A RichardPhilip J LupoLindsay M MortonYutaka A YasuiYadav A SapkotaMichael A ArnoldGeraldine AubertJoseph P NegliaLucie M TurcotteWendy M LeisenringJoshua N SampsonStephen J ChanockMelissa M HudsonGregory T ArmstrongLeslie L RobisonSmita BhatiaMaria Monica J GramatgesPublished in: PloS one (2020)
Using a functional variant approach, we identified and confirmed an association between a low frequency intronic regulatory POT1 variant and thyroid subsequent malignant neoplasm in survivors of childhood cancer. These results suggest that intronic variation in POT1 may affect key protein binding interactions that impact telomere maintenance and genomic integrity.