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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...

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

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