Abstract Search

ea0014oc4.3 | Neuroendocriology basis | ECE2007

Absence of germline AIP mutations in early onset sporadic somatotropinomas

Gomes Leonor , Prazeres Hugo , Paiva Isabel , Ribeiro Cristina , Rebelo Olinda , Martins Teresa , Lacerda Manuela , Carvalheiro Manuela

Objective: The pathogenesis of pituitary tumours is still incompletely understood. Somatotropinomas occur both sporadically and in the context of familial syndromes, such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and isolated familial somatotropinoma (IFS). Recently, germline mutations were reported in AIP (aryl hydrocarbon receptor interacting protein) gene in Finish and Italian families and in Finish patients with apparently sporadic pituitar...

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ea0092op-12-04 | Oral Session 12: Emerging Insights into Thyroid Cancer Genetics | ETA2023

Genetics of familial non-medullary thyroid carcinoma - investigation of two families’

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...

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Endocrine Abstracts

Absence of germline AIP mutations in early onset sporadic somatotropinomas

Genetics of familial non-medullary thyroid carcinoma - investigation of two families’

BiosciAbstracts