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. 2024 May 9;111(5):znae070. doi: 10.1093/bjs/znae070

Table 13.

Clinical criteria for genetic testing

Essential clinical criteria (both) Supportive clinical criteria (any)
1. Phenotypic features A. Spectrum of other histological lesions:

  • Proximal (body and fundus) gastric polyposis with antral sparing

  • Hyperproliferative aberrant pits

  • No evidence of colorectal or duodenal polyposis

  • Hyperplastic polyps

  • >100 polyps carpeting the proximal stomach in the index patient or >30 polyps in a first-degree relative of another patient*

  • Gastric-type adenomas

  • Predominantly fundic gland polyps and/or fundic gland–like polyps
2. Proband or family member with either dysplastic fundic gland polyps or gastric adenocarcinoma B. Family history (autosomal dominant pattern of inheritance)
3. Mutation in the chr5:112043220_112043224 region of promoter 1B of the APC gene†

*Exclusions include other heritable gastric polyposis syndromes and use of proton-pump inhibitors; in patients on proton-pump inhibitors, it is recommended to repeat the endoscopy off therapy. †The point mutations that segregate with GAPPS (c.-191T>C, c.-192A>G and c.-195A>C) are all positioned within the YY1 binding motif of the APC gene and confirm the diagnosis of GAPPS294,306