Searchable abstracts of presentations at key conferences in endocrinology

ea0038oc5.1 | Thyroid and parathyroid | SFEBES2015

Functional consequences of germline mutations in a novel non-RET medullary thyroid cancer susceptibility gene

Read Martin , Smith Joel , Smith Vicki , Bosseboeuf Emy , Wake Naomi , Watkinson John , Wallis Yvonne , Maher Eamonn , McCabe Christopher , Woodward Emma

Whilst the majority of familial medullary thyroid cancer (MTC) is caused by germline mutations of the RET proto-oncogene, there are families and individuals with predisposition to MTC in whom no RET mutation has been identified (non-RET MTC). Recently, we identified novel mutations in a single gene termed MTC2 in non-RET MTC individuals by whole exome sequencing. The precise role of these MTC2 germline mutations in MTC tumorigenesis is however unclear. Here, we examined the fu...

ea0086p323 | Endocrine Cancer and Late Effects | SFEBES2022

Managing PPGL surveillance in the COVID-19 recovery period: experience of a newly-established Endocrine Genetics MDT

Hunter Louise , Gibson Christine , Komlosy Nicci , Bastin Ambily , Balmuri Laxmi , Hanley Neil , Jennings Rachel , Woodward Emma , Lewis Alex

Background: Lifelong surveillance should be offered to people with hereditary phaeochromocytoma and paraganglioma (PPGL), including asymptomatic carriers of pathogenic gene variants. Regular biochemical and radiological surveillance aims to improve disease detection and prognosis. During the COVID-19 pandemic, outpatient appointments were cancelled or postponed. Departments continue to face large backlogs of work. Clinicians in the USA reported 15% PPGL patients missing at lea...