Article
Germline pathogenic variants in patients with early-onset neuroendocrine neoplasms.
Endocrine-related cancer - 1 Jun 2023
Riechelmann Rachel Pimenta, Donadio Mauro Daniel Spina, Jesus Victor Hugo Fonseca de, de Carvalho Nathalia de Angelis, Santiago Karina Miranda, Barros Milton J, Lopes Laura, Oliveira Dos Santos Gabriel, Nirvana Formiga Maria, Carraro Dirce Maria, Torrezan Giovana Tardin
Abstract excerpt
Neuroendocrine neoplasms (NENs) are a rare group of cancers with heterogeneous behaviour and mostly of unknown aetiology. Excluding some infrequent hereditary cancer syndromes, the extent and clinical significance of mutations in other cancer predisposing genes (CPGs) are not known. We aimed to investigate the frequency of pathogenic and likely germline pathogenic variants (GPVs) in known CPGs in young adults...
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