Searchable abstracts of presentations at key conferences in endocrinology

ea0051oc5.7 | Oral Communications 5 | BSPED2017

The Phenotyping of Overgrowth (POD) Study: a novel ‘no win, no fee’ model for translating research findings into clinical diagnoses

Foster Alison , Antoniadi Thalia , Wallis Yvonne , Griffiths Mike , Lim Derek , Cole Trevor , Barrett Tim

Introduction: Rare genetic overgrowth disorders are a group of conditions characterised by height and/or head circumference >2 S.D. above the mean for age and sex, learning disability, congenital anomalies, and in some cases childhood tumours. POD is a national cohort study that includes a next generation sequencing (NGS) panel of overgrowth genes. We present a new model for clinical confirmation of pathogenic variants identified by this research panel. Clin...

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...