Lung carcinoma: genes and variants
Lung carcinoma is linked to 4 analyzed proteins (BRAF, CHEK2, EGFR and TERT). 2 DNA variants are known to cause it; 2 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 Lung 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.
2 disease-causing and 2 uncertain variants in BRAF are linked to Lung carcinoma.
CHEK2: Serine/threonine-protein kinase Chk2
It propagates DNA-damage checkpoint signals to proteins controlling cell-cycle arrest, repair, and apoptosis. Germline loss-of-function variants confer moderate cancer susceptibility, especially for breast cancer, while risk estimates depend on the specific allele and family context.
0 disease-causing and 0 uncertain variants in CHEK2 are linked to Lung carcinoma.
EGFR: Epidermal growth factor receptor
A cell-surface receptor tyrosine kinase that responds to epidermal-growth-factor family ligands. Ligand binding activates phosphorylation cascades that regulate cell growth, survival, and differentiation, which is why EGFR changes are important in cancer biology.
0 disease-causing and 0 uncertain variants in EGFR are linked to Lung carcinoma.
TERT: Telomerase reverse transcriptase
It extends telomeric DNA using an internal RNA template and helps counter progressive chromosome-end shortening in stem and proliferative cells. Loss-of-function variants cause telomere-biology disorders, while promoter activation and increased activity support unlimited proliferation in many cancers.
0 disease-causing and 0 uncertain variants in TERT are linked to Lung carcinoma.
Weakly linked (only a few uncertain records): MET, PPM1D and PRKN.
Known disease-causing variants in Lung carcinoma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| BRAF N581K | 581 | Protein kinase | Disease-causing (★★) |
| BRAF D638E | 638 | Protein kinase | Disease-causing (★★) |
Same protein, different disease
- RASopathy is also caused by BRAF variants; they fall mostly in different places as the Lung carcinoma variants (36 disease-causing).
- Cardio-facio-cutaneous syndrome is also caused by BRAF variants; they fall mostly in different places as the Lung carcinoma variants (26 disease-causing).
- Cardiofaciocutaneous syndrome is also caused by BRAF variants; they fall mostly in different places as the Lung carcinoma variants (17 disease-causing).
- Noonan syndrome is also caused by BRAF variants; they fall mostly in different places as the Lung 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 Lung carcinoma variants (10 disease-causing).
Diseases related to Lung carcinoma
- Colorectal cancer, also linked to BRAF, CHEK2 and EGFR
- Lung adenocarcinoma, also linked to BRAF, EGFR and TERT
- Non-small cell lung carcinoma, also linked to BRAF and EGFR
- Melanoma, cutaneous malignant, susceptibility to, 8, also linked to BRAF and TERT
- Lung cancer, also linked to BRAF and EGFR
- Hepatocellular carcinoma, also linked to BRAF and TERT
- Prostate cancer, also linked to CHEK2 and TERT
- Hypertrophic cardiomyopathy, also linked to BRAF
- RASopathy, also linked to BRAF
- Li-Fraumeni syndrome, also linked to CHEK2
- Noonan syndrome, also linked to BRAF
- Noonan syndrome and Noonan-related syndrome, also linked to BRAF
Frequently asked questions
Which genes are linked to Lung carcinoma?
In CATVariant, Lung carcinoma is linked to 4 analyzed proteins: BRAF (Serine/threonine-protein kinase B-raf), CHEK2 (Serine/threonine-protein kinase Chk2), EGFR (Epidermal growth factor receptor) and TERT (Telomerase reverse transcriptase).
How many genetic variants are linked to Lung carcinoma?
7 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Lung 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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