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