Neoplasm of stomach: genes and variants
Neoplasm of stomach is linked to 3 analyzed proteins (FGFR2, PIK3CA and MUTYH). 2 DNA variants are known to cause it; 8 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Neoplasm of stomach
FGFR2: Fibroblast growth factor receptor 2
Its fibroblast-growth-factor signaling regulates proliferation, differentiation, and developmental patterning across multiple tissues. Germline activating variants cause several craniosynostosis syndromes, while somatic mutations, amplification, or fusions can drive cancer.
1 disease-causing and 0 uncertain variants in FGFR2 are linked to Neoplasm of stomach.
PIK3CA: Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
Its p110-alpha catalytic activity generates PIP3 and activates AKT-dependent growth, survival, and metabolic signaling downstream of many receptors. Activating variants are frequent cancer drivers and, when present mosaically during development, can cause PIK3CA-related overgrowth spectrum.
1 disease-causing and 0 uncertain variants in PIK3CA are linked to Neoplasm of stomach.
MUTYH: Adenine DNA glycosylase
It removes adenines incorrectly paired with oxidized guanine, preventing characteristic G:C-to-T:A mutations during base-excision repair. Biallelic loss-of-function variants cause MUTYH-associated polyposis and substantially increase colorectal-cancer risk.
0 disease-causing and 8 uncertain variants in MUTYH are linked to Neoplasm of stomach.
Known disease-causing variants in Neoplasm of stomach
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PIK3CA H1047Y | 1047 | PI3K/PI4K catalytic | Disease-causing (★★) |
| FGFR2 Y375C | 375 | Extracellular | Disease-causing (★★) |
Same protein, different disease
- FGFR2-related craniosynostosis is also caused by FGFR2 variants; they fall mostly in different places as the Neoplasm of stomach variants (54 disease-causing).
- Crouzon syndrome is also caused by FGFR2 variants; they fall mostly in different places as the Neoplasm of stomach variants (22 disease-causing).
- Pfeiffer syndrome is also caused by FGFR2 variants; they fall mostly in different places as the Neoplasm of stomach variants (13 disease-causing).
- Acrocephalosyndactyly type I is also caused by FGFR2 variants; they fall mostly in different places as the Neoplasm of stomach variants (6 disease-causing).
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis is also caused by FGFR2 variants; they fall mostly in different places as the Neoplasm of stomach variants (5 disease-causing).
- PIK3CA related overgrowth syndrome is also caused by PIK3CA variants; they fall mostly in different places as the Neoplasm of stomach variants (30 disease-causing).
- Cowden syndrome is also caused by PIK3CA variants; they fall mostly in different places as the Neoplasm of stomach variants (23 disease-causing).
- Megalencephaly-capillary malformation-polymicrogyria syndrome is also caused by PIK3CA variants; they fall mostly in different places as the Neoplasm of stomach variants (22 disease-causing).
- Ovarian neoplasm is also caused by PIK3CA variants; they fall mostly in different places as the Neoplasm of stomach variants (5 disease-causing).
- PIK3CA constitutional syndrome is also caused by PIK3CA variants; they fall partly in the same places as the Neoplasm of stomach variants (4 disease-causing).
Diseases related to Neoplasm of stomach
- Colorectal cancer, also linked to FGFR2, MUTYH and PIK3CA
- Gastric cancer, also linked to FGFR2, MUTYH and PIK3CA
- Noonan syndrome, also linked to PIK3CA
- Cowden syndrome, also linked to PIK3CA
- FGFR2-related craniosynostosis, also linked to FGFR2
- Ovarian cancer, also linked to PIK3CA
- Familial adenomatous polyposis, also linked to MUTYH
- Pfeiffer syndrome, also linked to FGFR2
- PIK3CA related overgrowth syndrome, also linked to PIK3CA
- Familial cancer of breast, also linked to PIK3CA
- Megalencephaly-capillary malformation-polymicrogyria syndrome, also linked to PIK3CA
- Crouzon syndrome, also linked to FGFR2
Frequently asked questions
Which genes are linked to Neoplasm of stomach?
In CATVariant, Neoplasm of stomach is linked to 3 analyzed proteins: FGFR2 (Fibroblast growth factor receptor 2), PIK3CA (Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform) and MUTYH (Adenine DNA glycosylase).
How many genetic variants are linked to Neoplasm of stomach?
10 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 8 are of uncertain significance or have conflicting reports.
Which uncertain variants in Neoplasm of stomach look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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