Searchable abstracts of presentations at key conferences in endocrinology

Endocrine Abstracts

Published by BioScientifica

Page 1 of about 2 results

ea0090rc5.2 | Rapid Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

Analysis of germline mutations in patients with non-syndromic adrenocortical carcinoma

Terzolo Massimo , Grisanti Salvatore , Scatolini Maria , Tomaiuolo Pasquale , Grosso Enrico , Basile Vittoria , Cosentini Deborah , Puglisi Soraya , Lagana Marta , Perotti Paola , Rossini Elisa , Sigala Sandra , Volante Marco , Berruti Alfredo

Background: Adrenocortical carcinoma (ACC) is a rare cancer associated with hereditary syndromes in 10% of cases. However, data on germline variants (GVs) in adult patients with sporadic ACC are limited.Methods: We analyzed germline DNA from 150 adult patients with sporadic ACC sequentially referred to our centers between 1998-2019. We designed a custom panel of 17 genes potentially involved in the pathogenesis of ACC: AIP, APC, ARMC5, ARNT, BRCA1, BRCA2...
0 shares

ea0099p417 | Adrenal and Cardiovascular Endocrinology | ECE2024

Germline targeted next-generation sequencing in patients with adrenal incidentalomas

Messina Erika , Puglisi Soraya , Scatolini Maria , Tomaiuolo Pasquale , Nekić Anja Barač , Morelli Valentina , Alessi Ylenia , Tomsic Karin Zibar , Palmieri Serena , Ferrau Francesco , Grosso Enrico , Pia Anna , Reimondo Giuseppe , Chiodini Iacopo , Kastelan Darko , Terzolo Massimo

Background: The advances in next-generation sequencing (NGS) technologies and bioinformatic analysis have shed light on genetic alterations, either of germline or somatic origin, in many disorders, including adrenocortical diseases. However, our knowledge on genomic characteristics in benign adrenal tumors of serendipitous discovery (adrenal incidentalomas) remain scarce.The aim of this study was to understand the pathogenic role of germline variants in adrenal incidentalomas....
0 shares

Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 | Privacy policy | Cookie settings

BiosciAbstracts

Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.

Find out more