Gastric neoplasm: genes and variants
Explore variant evidence for Gastric neoplasm across 8 analyzed proteins (FGFR2, PIK3CA, MUTYH, ERBB2, PDCD1 and 3 more). Linked ClinVar records include 2 pathogenic or likely pathogenic variants, 1 variants of uncertain significance and 7 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
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Genes linked to Gastric neoplasm
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 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in FGFR2 have source records linked to Gastric neoplasm. Association strength is not clinical gene validity.
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 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in PIK3CA have source records linked to Gastric neoplasm. Association strength is not clinical gene validity.
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 ClinVar pathogenic / likely pathogenic and 8 uncertain variants in MUTYH have source records linked to Gastric neoplasm. Association strength is not clinical gene validity.
ERBB2: Receptor tyrosine-protein kinase erbB-2
ERBB2, also called HER2, is a cell-surface receptor tyrosine kinase that works with other ERBB receptors to transmit growth signals. It helps organize signaling and cytoskeletal responses, and abnormal ERBB2 activity is a major feature of several cancers.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in ERBB2 have source records linked to Gastric neoplasm. Association strength is not clinical gene validity.
PDCD1: Programmed cell death protein 1
PDCD1 is an inhibitory receptor on activated T cells that binds PD-L1 and PD-L2. Its signaling helps maintain immune tolerance by restraining T-cell activation, making the protein important in autoimmunity and cancer immunotherapy.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in PDCD1 have source records linked to Gastric neoplasm. Association strength is not clinical gene validity.
TUBA1A: Tubulin alpha-1A chain
An alpha-tubulin chain that pairs with beta-tubulin to build microtubules. Microtubules provide tracks for transport and help shape dividing and migrating cells, making TUBA1A especially important for fetal brain development.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in TUBA1A have source records linked to Gastric neoplasm. Association strength is not clinical gene validity.
TUBB2B: Tubulin beta-2B chain
It contributes to neuronal microtubules needed for progenitor division, neuronal migration, axon development, and cortical organization. Heterozygous pathogenic variants cause tubulinopathy with polymicrogyria, cortical dysplasia, developmental delay, and sometimes epilepsy.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in TUBB2B have source records linked to Gastric neoplasm. Association strength is not clinical gene validity.
TUBB3: Tubulin beta-3 chain
It forms neuronal microtubules required for axon growth, guidance, and intracellular transport. Heterozygous pathogenic variants can cause congenital fibrosis of the extraocular muscles type 3 and broader tubulinopathy phenotypes with brain and cranial-nerve abnormalities.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in TUBB3 have source records linked to Gastric neoplasm. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Gastric neoplasm
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PIK3CA H1047Y | 1047 | PI3K/PI4K catalytic | Pathogenic / likely pathogenic (★★) |
| FGFR2 Y375C | 375 | Extracellular | Pathogenic / likely pathogenic (★★) |
Same protein, different disease
- FGFR2-related craniosynostosis also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the Gastric neoplasm variants (54 pathogenic / likely pathogenic).
- Crouzon disease also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the Gastric neoplasm variants (22 pathogenic / likely pathogenic).
- Pfeiffer syndrome also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the Gastric neoplasm variants (13 pathogenic / likely pathogenic).
- Apert syndrome also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the Gastric neoplasm variants (6 pathogenic / likely pathogenic).
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the Gastric neoplasm variants (5 pathogenic / likely pathogenic).
- PIK3CA related overgrowth syndrome also has ClinVar records linked to PIK3CA variants; they fall mostly in different places as the Gastric neoplasm variants (30 pathogenic / likely pathogenic).
- Cowden disease also has ClinVar records linked to PIK3CA variants; they fall mostly in different places as the Gastric neoplasm variants (23 pathogenic / likely pathogenic).
- Megalencephaly-capillary malformation-polymicrogyria syndrome also has ClinVar records linked to PIK3CA variants; they fall mostly in different places as the Gastric neoplasm variants (22 pathogenic / likely pathogenic).
- Ovarian neoplasm also has ClinVar records linked to PIK3CA variants; they fall mostly in different places as the Gastric neoplasm variants (5 pathogenic / likely pathogenic).
- PIK3CA constitutional syndrome also has ClinVar records linked to PIK3CA variants; they fall partly in the same places as the Gastric neoplasm variants (4 pathogenic / likely pathogenic).
Diseases related to Gastric neoplasm
- Gastric cancer, also linked to ERBB2, FGFR2, MUTYH, PDCD1 and 2 more
- Non-small cell lung carcinoma, also linked to ERBB2, PDCD1, PIK3CA, TUBA1A and 2 more
- Ovarian cancer, also linked to ERBB2, PIK3CA, TUBB2B and TUBB3
- Colorectal cancer, also linked to ERBB2, FGFR2, MUTYH and PIK3CA
- Multiple myeloma, also linked to TUBA1A, TUBB2B and TUBB3
- Lung cancer, also linked to ERBB2, PDCD1 and PIK3CA
- Familial Mediterranean fever, also linked to TUBA1A, TUBB2B and TUBB3
- Prostate cancer, also linked to TUBA1A, TUBB2B and TUBB3
- Tubulinopathy, also linked to TUBA1A and TUBB2B
- Polymicrogyria due to TUBB2B mutation, also linked to TUBB2B and TUBB3
- Urinary bladder cancer, also linked to ERBB2 and PIK3CA
- Colon carcinoma, also linked to MUTYH and PIK3CA
Frequently asked questions
Which genes have records linked to Gastric neoplasm?
This view contains 8 analyzed proteins: FGFR2, PIK3CA, MUTYH, ERBB2, PDCD1 and 3 more. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 2 pathogenic or likely pathogenic variants, 1 variants of uncertain significance and 7 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 10 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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