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Hereditary Diffuse Gastric Cancer: A 2022 Update

Gastric cancer is ranked fifth among the most commonly diagnosed cancers, and is the fourth leading cause of cancer-related deaths worldwide. The majority of gastric cancers are sporadic, while only a small percentage, less than 1%, are hereditary. Hereditary diffuse gastric cancer (HDGC) is a rare...

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Detalles Bibliográficos
Autores principales: Kole, Christo, Charalampakis, Nikolaos, Sakellariou, Stratigoula, Papaxoinis, George, Apostolou, Konstantinos G., Machairas, Nikolaos, Papanikolaou, Ioannis S., Schizas, Dimitrios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9783673/
https://www.ncbi.nlm.nih.gov/pubmed/36556253
http://dx.doi.org/10.3390/jpm12122032
Descripción
Sumario:Gastric cancer is ranked fifth among the most commonly diagnosed cancers, and is the fourth leading cause of cancer-related deaths worldwide. The majority of gastric cancers are sporadic, while only a small percentage, less than 1%, are hereditary. Hereditary diffuse gastric cancer (HDGC) is a rare malignancy, characterized by early-onset, highly-penetrant autosomal dominant inheritance mainly of the germline alterations in the E-cadherin gene (CDH1) and β-catenin (CTNNA1). In the present study, we provide an overview on the molecular basis of HDGC and outline the essential elements of genetic counseling and surveillance. We further provide a practical summary of current guidelines on clinical management and treatment of individuals at risk and patients with early disease.