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Review
. 2022 Dec 8;12(12):2032.
doi: 10.3390/jpm12122032.

Hereditary Diffuse Gastric Cancer: A 2022 Update

Christo Kole  1 , Nikolaos Charalampakis  2 , Stratigoula Sakellariou  3 , George Papaxoinis  4 , Konstantinos G Apostolou  5 , Nikolaos Machairas  6 , Ioannis S Papanikolaou  7 , Dimitrios Schizas  1
Affiliations
Review

Hereditary Diffuse Gastric Cancer: A 2022 Update

Christo Kole et al. J Pers Med. .

Abstract

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.

Keywords: CDH1; CTNNA1; MAP3K6; clinical guidelines; gastrectomy; hereditary diffuse gastric cancer.

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Conflict of interest statement

The authors declare no conflict of interest.

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