Basal cell carcinoma: genes and variants
Basal cell carcinoma is linked to 10 analyzed proteins (TP53, PTCH1, SMO, BACH2, CTLA4, IRF4, KRT5, MYCN and 2 more). 1 DNA variants are known to cause it; 177 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Basal cell carcinoma, susceptibility to, 1; basal cell carcinoma, susceptibility to, 7
Genes linked to Basal cell carcinoma
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.
1 disease-causing and 0 uncertain variants in TP53 are linked to Basal cell carcinoma.
PTCH1: Protein patched homolog 1
It suppresses Smoothened in the absence of Hedgehog ligands and thereby keeps Hedgehog developmental signaling inactive until an appropriate signal is received. Germline loss-of-function variants cause Gorlin syndrome, while somatic pathway activation drives basal-cell carcinoma and other tumors.
0 disease-causing and 172 uncertain variants in PTCH1 are linked to Basal cell carcinoma.
SMO: Protein smoothened
It transmits Hedgehog signals across the membrane after inhibition by PTCH1 is relieved, activating GLI-dependent developmental transcription. Activating variants or upstream pathway loss can drive basal-cell carcinoma, medulloblastoma, and other Hedgehog-dependent tumors.
0 disease-causing and 2 uncertain variants in SMO are linked to Basal cell carcinoma.
BACH2: Transcription regulator protein BACH2
It controls transcriptional programs that balance lymphocyte differentiation, immune tolerance, and effector-cell development. Haploinsufficiency can cause immunodeficiency with autoimmunity, and common variation influences susceptibility to several autoimmune diseases.
0 disease-causing and 0 uncertain variants in BACH2 are linked to Basal cell carcinoma.
CTLA4: Cytotoxic T-lymphocyte protein 4
It restrains T-cell activation by competing with CD28 for CD80 and CD86 and by delivering inhibitory signals after immune activation. Haploinsufficiency causes immune dysregulation with autoimmunity and lymphoproliferation, while therapeutic blockade enhances antitumor immunity.
0 disease-causing and 0 uncertain variants in CTLA4 are linked to Basal cell carcinoma.
IRF4: Interferon regulatory factor 4
It controls differentiation and function of B cells, plasma cells, T cells, and other immune lineages in a context-dependent manner. Germline variants can cause immunodeficiency, while rearrangements or abnormal expression drive several lymphoid malignancies.
0 disease-causing and 0 uncertain variants in IRF4 are linked to Basal cell carcinoma.
KRT5: Keratin, type II cytoskeletal 5
It pairs with keratin 14 to form the primary intermediate-filament scaffold of basal epidermal keratinocytes. Dominant pathogenic variants are a major cause of epidermolysis bullosa simplex, while other alleles can cause pigmentary disorders such as Dowling-Degos disease.
0 disease-causing and 0 uncertain variants in KRT5 are linked to Basal cell carcinoma.
MYCN: N-myc proto-oncogene protein
It drives transcriptional programs for growth, metabolism, and proliferation during neural and other embryonic development. Amplification is a major adverse prognostic feature in neuroblastoma, while germline dysregulation can cause developmental syndromes with abnormal growth.
0 disease-causing and 0 uncertain variants in MYCN are linked to Basal cell carcinoma.
TLR7: Toll-like receptor 7
It detects single-stranded viral RNA in endosomes and drives type I interferon and inflammatory responses, particularly in plasmacytoid dendritic cells and B cells. Loss-of-function variants can predispose to severe viral infection, whereas gain-of-function variants cause immune dysregulation and autoimmunity.
0 disease-causing and 0 uncertain variants in TLR7 are linked to Basal cell carcinoma.
XPA: DNA repair protein complementing XP-A cells
It verifies bulky DNA lesions and organizes the nucleotide-excision-repair machinery around damaged sites. Biallelic loss-of-function variants cause xeroderma pigmentosum group A with extreme ultraviolet sensitivity, early skin cancers, and often progressive neurologic disease.
0 disease-causing and 0 uncertain variants in XPA are linked to Basal cell carcinoma.
Weakly linked (only a few uncertain records): RASA1.
Known disease-causing variants in Basal cell carcinoma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TP53 L130P | 130 | 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 Basal cell carcinoma variants (188 disease-causing).
- Adrenocortical carcinoma, hereditary is also caused by TP53 variants; they fall mostly in different places as the Basal cell carcinoma variants (23 disease-causing).
- Acute myeloid leukemia is also caused by TP53 variants; they fall mostly in different places as the Basal cell carcinoma variants (6 disease-causing).
- Familial cancer of breast is also caused by TP53 variants; they fall mostly in different places as the Basal cell carcinoma variants (5 disease-causing).
- Glioma susceptibility 1 is also caused by TP53 variants; they fall mostly in different places as the Basal cell carcinoma variants (5 disease-causing).
Diseases related to Basal cell carcinoma
- Hypothyroidism, also linked to BACH2, CTLA4 and IRF4
- Acute myeloid leukemia, also linked to SMO and TP53
- Type 1 diabetes mellitus, also linked to BACH2 and CTLA4
- Hepatocellular carcinoma, also linked to CTLA4 and TP53
- Medulloblastoma, also linked to PTCH1 and SMO
- Melanoma, also linked to CTLA4 and IRF4
- Systemic lupus erythematosus, also linked to CTLA4 and TLR7
- Li-Fraumeni syndrome, also linked to TP53
- Ovarian cancer, also linked to PTCH1
- Malaria, also linked to TLR7
- Gorlin syndrome, also linked to PTCH1
- Epidermolysis bullosa simplex, also linked to KRT5
Frequently asked questions
Which genes are linked to Basal cell carcinoma?
In CATVariant, Basal cell carcinoma is linked to 10 analyzed proteins: TP53 (Cellular tumor antigen p53), PTCH1 (Protein patched homolog 1), SMO (Protein smoothened), BACH2 (Transcription regulator protein BACH2), CTLA4 (Cytotoxic T-lymphocyte protein 4), IRF4 (Interferon regulatory factor 4) and 4 more.
How many genetic variants are linked to Basal cell carcinoma?
184 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 177 are of uncertain significance or have conflicting reports.
Which uncertain variants in Basal cell 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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