ea0092op-12-04 | Oral Session 12: Emerging Insights into Thyroid Cancer Genetics | ETA2023
Teixeira Elisabete
, Fernandes Claudia
, Gaspar Tiago
, Ferreira Marta
, Lima Raquel
, Canberk Sule
, Prazeres Hugo
, Soares Paula
, Rodrigues Fernando
, Martins Teresa
, Fernandes Andreia
Introduction: By Next Generation Sequencing (NGS) our team identified in two families presenting a phenotype compatible with familial non-medullary thyroid carcinoma (Family C and Family R), two new potentially pathogenic germline mutations. Family C presented p.Gly106Arg mutation in the KCNB2 gene, that codifies a voltage-gated potassium channel (vgKCN). Since potassium efflux by the cell is a necessary condition for cellular homeostasis, vgKCN disruption can impact the funct...