Lip and oral cavity carcinoma: genes and variants

Genes linked to Lip and oral cavity carcinoma

• HRAS: GTPase HRas

  Its GTP-bound state activates RAF-MEK-ERK and other pathways downstream of growth-factor receptors. Somatic activating variants drive several cancers, while germline activating variants cause Costello syndrome.

  0 disease-causing and 0 uncertain variants in HRAS are linked to Lip and oral cavity carcinoma.

• ABL1: Tyrosine-protein kinase ABL1

  It coordinates cytoskeletal remodeling, adhesion, DNA-damage responses, and growth signaling through tightly regulated tyrosine phosphorylation. Fusion with BCR removes normal control and creates the constitutively active kinase that drives chronic myeloid leukemia and subsets of acute lymphoblastic leukemia.

  2 disease-causing and 0 uncertain variants in ABL1 are linked to Lip and oral cavity carcinoma.

• BRAF: Serine/threonine-protein kinase B-raf

  It relays activated RAS signals through MEK and ERK to control proliferation, differentiation, and survival. Activating variants, especially V600E, drive melanoma and several other cancers and create sensitivity to pathway-directed therapies.

  1 disease-causing and 0 uncertain variants in BRAF are linked to Lip and oral cavity carcinoma.

• 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 Lip and oral cavity carcinoma.

Known disease-causing variants in Lip and oral cavity carcinoma

Same protein, different disease

• Congenital heart defects and skeletal malformations syndrome is also caused by ABL1 variants; they fall mostly in different places as the Lip and oral cavity carcinoma variants (14 disease-causing).
• Leukemia, Philadelphia chromosome-positive, resistant to imatinib is also caused by ABL1 variants; they fall partly in the same places as the Lip and oral cavity carcinoma variants (5 disease-causing).
• Chronic myeloid leukemia is also caused by ABL1 variants; they fall mostly in different places as the Lip and oral cavity carcinoma variants (3 disease-causing).
• RASopathy is also caused by BRAF variants; they fall mostly in different places as the Lip and oral cavity carcinoma variants (36 disease-causing).
• Cardio-facio-cutaneous syndrome is also caused by BRAF variants; they fall mostly in different places as the Lip and oral cavity carcinoma variants (26 disease-causing).
• Cardiofaciocutaneous syndrome is also caused by BRAF variants; they fall mostly in different places as the Lip and oral cavity carcinoma variants (17 disease-causing).
• Noonan syndrome is also caused by BRAF variants; they fall mostly in different places as the Lip and oral cavity carcinoma variants (11 disease-causing).
• Noonan syndrome and Noonan-related syndrome is also caused by BRAF variants; they fall mostly in different places as the Lip and oral cavity carcinoma variants (10 disease-causing).
• PIK3CA related overgrowth syndrome is also caused by PIK3CA variants; they fall mostly in different places as the Lip and oral cavity carcinoma variants (30 disease-causing).
• Cowden syndrome is also caused by PIK3CA variants; they fall mostly in different places as the Lip and oral cavity carcinoma variants (23 disease-causing).
• Megalencephaly-capillary malformation-polymicrogyria syndrome is also caused by PIK3CA variants; they fall mostly in different places as the Lip and oral cavity carcinoma variants (22 disease-causing).
• Ovarian neoplasm is also caused by PIK3CA variants; they fall partly in the same places as the Lip and oral cavity carcinoma variants (5 disease-causing).
• PIK3CA constitutional syndrome is also caused by PIK3CA variants; they fall mostly in different places as the Lip and oral cavity carcinoma variants (4 disease-causing).

Diseases related to Lip and oral cavity carcinoma

• Noonan syndrome, also linked to BRAF, HRAS and PIK3CA
• Colorectal cancer, also linked to ABL1, BRAF and PIK3CA
• Hypertrophic cardiomyopathy, also linked to BRAF and HRAS
• RASopathy, also linked to BRAF and HRAS
• Noonan syndrome and Noonan-related syndrome, also linked to BRAF and HRAS
• Malignant tumor of urinary bladder, also linked to HRAS and PIK3CA
• Non-small cell lung carcinoma, also linked to BRAF and PIK3CA
• Costello syndrome, also linked to BRAF and HRAS
• Carcinoma of colon, also linked to BRAF and PIK3CA
• Lung cancer, also linked to BRAF and PIK3CA
• Hepatocellular carcinoma, also linked to BRAF and PIK3CA
• Gastrointestinal stromal tumor, also linked to ABL1

Frequently asked questions

Which genes are linked to Lip and oral cavity carcinoma?

In CATVariant, Lip and oral cavity carcinoma is linked to 4 analyzed proteins: HRAS (GTPase HRas), ABL1 (Tyrosine-protein kinase ABL1), BRAF (Serine/threonine-protein kinase B-raf) and PIK3CA (Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform).

How many genetic variants are linked to Lip and oral cavity carcinoma?

9 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.

Which uncertain variants in Lip and oral cavity carcinoma 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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