Searchable abstracts of presentations at key conferences in endocrinology

ea0092ps3-30-08 | Thyroid Physiology in Periphery & Development Basic | ETA2023

Identification of FOXE1 promoter variants in families with cleft palate, struma ovarii and thyroid lesions

Pires Carolina , Saramago Ana , M. Moura Margarida , Li Jing , Marques Ines , Cabrera Rafael , Machado Ana , Grunewald Thomas , Leite Valeriano , Cavaco Branca

Introduction: Forkhead box E1 (FOXE1) gene encodes a transcription factor crucial for thyroid morphogenesis, differentiation, and function. We previously found evidence of the involvement of a rare germline FOXE1 variant in familial non-medullary thyroid carcinoma (FNMTC) etiology. FNMTC most common subtype is papillary thyroid carcinoma (PTC), and family members frequently present thyroid follicular nodular disease (FND). Germline FOXE1 mu...

ea0035p1149 | Thyroid Cancer | ECE2014

Prognostic significance of TERT promoter mutations in follicular cell-derived thyroid carcinomas

Melo Miguel , da Rocha Adriana Gaspar , Vinagre Joao , Batista Rui , Peixoto Joana , Celestino Ricardo , Salgado Catarina , Eloy Catarina , Lima Jorge , Amaro Teresina , Lobo Claudia , Moura Margarida , Cavaco Branca , Leite Valeriano , Cameselle-Teijeiro Jose Manuel , Carrilho Francisco , Carvalheiro Manuela , Maximo Valdemar , Sobrinho-Simoes Manuel , Soares Paula

Context: Telomerase promoter mutations (TERT) were recently described in follicular cell-derived thyroid carcinomas (FCDTC) and seem to be more prevalent in aggressive cancers.Objectives: We aimed to evaluate the frequency of TERT promoter mutations in thyroid lesions and to investigate the prognostic significance of such mutations in a large cohort of patients with differentiated thyroid carcinomas (DTC).<p class="abstext"...