Article
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes.
European journal of medical genetics - 1 Jan 2022
Garcia-Pelaez José, Barbosa-Matos Rita, São José Celina, Sousa Sónia, Gullo Irene, Hoogerbrugge Nicoline, Carneiro Fátima, Oliveira Carla
Abstract excerpt
Tumour risk syndromes (TRS) are characterized by an increased risk of early-onset cancers in a familial context. High cancer risk is mostly driven by loss-of-function variants in a single cancer-associated gene. Presently, predisposition to diffuse gastric cancer (DGC) is explained by CDH1 and CTNNA1 pathogenic and likely pathogenic variants (P/LP), causing Hereditary Diffuse Gastric Cancer (HDGC); while APC...
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