Heritable genetic changes | Clinical criteria for genetic testing | Genetic testing | |
DGLBC syndrome, previously called HDGC syndrome | Heterozygous germline pathogenic variant in CDH1 or CTNNA1 (autosomal dominant) | One or more of the following criteria, with cancer diagnoses confirmed on histology: Family criteria (first- or second-degree blood relatives):
Individual criteria:
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GAPPS | Heterozygous germline pathogenic variant in the promotor 1B region of APC (autosomal dominant) | One or more of the following criteria, with cancer diagnoses confirmed on histology:
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Familial intestinal gastric cancer | Causative gene variants have yet to be identified | One or more of the following criteria, with cancer diagnoses confirmed on histology:
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CLIA: Clinical Laboratory Improvement Amendments; DGLBC: diffuse gastric and lobular breast cancer; GAPPS: gastric adenocarcinoma and proximal polyposis of the stomach; GERD: gastroesophageal reflux disease; HDGC: hereditary diffuse gastric cancer.
* All sequencing for clinical management should be done in a CLIA-certified laboratory (or an equivalent certification in other countries).
¶ Proton pump inhibitors can induce a proximal polyposis of the stomach that may mimic a gastric adenocarcinoma. Patients taking these drugs should undergo a repeat endoscopy off-therapy to confirm the diagnosis of gastric adenocarcinoma versus proximal polyposis of the stomach.