Genetic Gastric Cancer Risk Syndromes
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Genetics in Gastroenterology Practice (B Katona, Section Editor)
Genetic Gastric Cancer Risk Syndromes Benjamin A. Lerner, MD1 Xavier Llor, MD, PhD2,* Address 1 Department of Medicine, Yale University, New Haven, CT, USA *,2 Department of Internal Medicine and Cancer Center, Yale University School of Medicine, P.O. Box 208019, 333 Cedar Street/LMP 1080, New Haven, CT, 065208019, USA Email: [email protected]
* Springer Science+Business Media, LLC, part of Springer Nature 2020
This article is part of the Topical Collection on Genetics in Gastroenterology Practice Keywords Hereditary gastric cancer I Inherited gastric cancer I Diffuse gastric cancer I Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) I Gastric polyps
Abstract Purpose of review Gastric cancer is a leading cause of cancer death in the world. Between 1 and 3% of cases are associated with specific genetic cancer risk syndromes. The purpose of this article is to review the latest insights, as well as gaps in knowledge, regarding some of the most common hereditary gastric cancer syndromes: hereditary diffuse gastric cancer (HDGC), gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), Lynch syndrome, the adenomatous polyposis syndromes, and the hamartomatous polyposis syndromes. Recent findings Patients carrying pathogenic variants in CDH1, but not meeting clinical criteria for HDGC, are increasingly being identified thanks to multigene panel testing; their absence from previous analyses overestimated gastric cancer penetrance. GAPPS is a recently described hereditary gastric cancer syndrome associated with specific point mutations in the promoter 1B region of the APC gene. Summary Risk of gastric cancer is highest among carriers of pathogenic variants in CDH1, with cumulative incidences approximately 40% and 30% for men and women, respectively. Mutations associated with Lynch syndrome and adenomatous polyposis syndromes confer greatest risk for gastric cancer in East Asian populations. Risk of gastric cancer in GAPPS and hamartomatous polyposis syndromes is difficult to estimate due to their rarity, but mutation status likely determines risk. Future research is needed to more precisely define risk of gastric cancer in these syndromes, so strategies for screening and prophylactic gastrectomy can be optimized.
Genetics in Gastroenterology Practice (B Katona, Section Editor)
Introduction Gastric cancer is the fifth leading cause of cancer and the third most common cause of cancer deaths in the world, with an estimated 819,000 deaths annually [1]. Gastric adenocarcinoma is by far the most common histologic subtype of gastric cancer, comprising 95% of cases [2]. Both genetic and environmental factors contribute to the development of this type of cancer. Recognized risk factors include advanced age, male sex, tobacco use, diets high in salt, and smoked foods, as well as H. pylori infection, which has been implicated in 65– 80% of cases [3]. Whereas about 90% of gastric cancers appear to be sporadic, 10% exhibit familia
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