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. Author manuscript; available in PMC: 2023 Oct 3.
Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2023 Apr 3;32(4):473–486. doi: 10.1158/1055-9965.EPI-22-0994

Table 1:

Genetic syndromes associated with gastric cancer

Syndrome Clinical features Associated gene alterations Lifetime risk of gastric cancer Gastric cancer screening and prevention
Hereditary diffuse gastric cancer (HDGC) Increased risk of early-onset diffuse subtype gastric cancer and lobular breast cancer CDH1, CTNNA1, RAD51C, BRCA1, PALB2 33-70%69,73 CDH1 and CTTNA genetic testing76
Prophylactic gastrectomy recommended between 18 and 40 years, endoscopic surveillance every 6-12 months if declined154
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) >100 polyps in the body and fundus of the stomach without duodenal and colorectal polyposis APC promoter B1 13%79,160 No current guidelines, but consider upper endoscopic surveillance at symptom onset or 15 years.161
Gastrectomy if dysplasia, or at 30-35 years or 5 years prior to youngest family member diagnosis of gastric cancer160,161
Familial adenomatous polyposis (FAP) Adenomatous and/or fundic gland polyps in stomach in addition to colon and rectal polyps APC 0.6-2%154 Upper endoscopic surveillance at symptom onset or 25-30 years with specialized surveillance if dysplasia154,161
Lynch Syndrome Increased risk of intestinal subtype gastric cancer, other gastrointestinal cancers, endometrial and ovarian cancers MLH1, MSH2, MSH6, EPCAM 5-9%90 Test for H. pylori and treat if present. Upper endoscopic surveillance at 30-35 years every 2-4 years, or earlier and more frequently based on family history or presence of high-risk endoscopic findings.82,161
Peutz-Jeughers Syndrome (PJS) Gastrointestinal hamartomatous polyps and mucocutaneous pigmentation LKB1(STK11) 29%94 Upper endoscopic surveillance beginning at age 8-10 years, repeated every 2-3 years if polyps or resuming at 18 years if no polyps161
Juvenile Polyposis Syndrome (JPS) Gastrointestinal hamartomatous polyps BMPR1A
SMAD4		 11-21%82,95 Upper endoscopic surveillance beginning at age 15 every 1-3 years154
Gastrectomy in severe cases82
Li-Fraumeni Syndrome Increased risk of multiple cancer types TP53 1.3-22.6%81,100,101 No current centralized guidelines
Familial intestinal gastric cancer (FIGC) Increased risk of intestinal subtype gastric cancer Currently unknown Currently unknown No current centralized guidelines