Squamous cell carcinoma of the head and neck: genes and variants
Squamous cell carcinoma of the head and neck is linked to 1 analyzed protein (TP53). 2 DNA variants are known to cause it; 7 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 Squamous cell carcinoma of the head and neck
TP53: Cellular tumor antigen p53
It coordinates transcriptional responses to DNA damage and other cellular stresses, promoting cell-cycle arrest, senescence, DNA repair, or apoptosis when appropriate. Loss of this tumor-suppressive control is one of the most common events in cancer, while germline pathogenic variants cause Li-Fraumeni syndrome.
2 disease-causing and 6 uncertain variants in TP53 are linked to Squamous cell carcinoma of the head and neck.
Weakly linked (only a few uncertain records): KEAP1.
Known disease-causing variants in Squamous cell carcinoma of the head and neck
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TP53 G266E | 266 | DNA binding | Disease-causing (★★) |
| TP53 H193R | 193 | DNA binding | Disease-causing (★★) |
Same protein, different disease
- Li-Fraumeni syndrome is also caused by TP53 variants; they fall mostly in different places as the Squamous cell carcinoma of the head and neck variants (188 disease-causing).
- Adrenocortical carcinoma, hereditary is also caused by TP53 variants; they fall mostly in different places as the Squamous cell carcinoma of the head and neck variants (23 disease-causing).
- Acute myeloid leukemia is also caused by TP53 variants; they fall mostly in different places as the Squamous cell carcinoma of the head and neck variants (6 disease-causing).
- Familial cancer of breast is also caused by TP53 variants; they fall mostly in different places as the Squamous cell carcinoma of the head and neck variants (5 disease-causing).
- Glioma susceptibility 1 is also caused by TP53 variants; they fall mostly in different places as the Squamous cell carcinoma of the head and neck variants (5 disease-causing).
Diseases related to Squamous cell carcinoma of the head and neck
- Li-Fraumeni syndrome, also linked to TP53
- Acute myeloid leukemia, also linked to TP53
- Familial cancer of breast, also linked to TP53
- Adrenocortical carcinoma, hereditary, also linked to TP53
- Colorectal cancer, also linked to TP53
- Gastric cancer, also linked to TP53
- Breast-ovarian cancer, familial, susceptibility to, 1, also linked to TP53
- Glioma susceptibility 1, also linked to TP53
- Hereditary breast ovarian cancer syndrome, also linked to TP53
- Ovarian neoplasm, also linked to TP53
- Multiple myeloma, also linked to TP53
- Lung adenocarcinoma, also linked to TP53
Frequently asked questions
Which genes are linked to Squamous cell carcinoma of the head and neck?
In CATVariant, Squamous cell carcinoma of the head and neck is linked to 1 analyzed protein: TP53 (Cellular tumor antigen p53).
How many genetic variants are linked to Squamous cell carcinoma of the head and neck?
9 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in Squamous cell carcinoma of the head and neck 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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