Carcinoma of pancreas: genes and variants
Carcinoma of pancreas is linked to 3 analyzed proteins (STK11, TP53 and SMAD4). 3 DNA variants are known to cause it; 15 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 Carcinoma of pancreas
STK11: Serine/threonine-protein kinase STK11
It activates AMPK-family kinases to coordinate cellular energy sensing, polarity, and growth restraint. Germline loss-of-function variants cause Peutz-Jeghers syndrome and its associated cancer predisposition, while somatic loss is common in lung and other cancers.
1 disease-causing and 8 uncertain variants in STK11 are linked to Carcinoma of pancreas.
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 Carcinoma of pancreas.
SMAD4: SMAD family member 4
It forms transcriptional complexes with activated receptor-regulated SMADs and is the central nuclear mediator shared by TGF-beta and BMP pathways. Germline loss-of-function variants cause juvenile polyposis or combined juvenile-polyposis-HHT, while specific gain-of-function variants cause Myhre syndrome.
1 disease-causing and 7 uncertain variants in SMAD4 are linked to Carcinoma of pancreas.
Known disease-causing variants in Carcinoma of pancreas
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TP53 R337H | 337 | Oligomerization | Disease-causing (★★) |
| STK11 S240W | 240 | Protein kinase | Disease-causing (★★) |
| SMAD4 D493H | 493 | MH2 | Disease-causing |
Same protein, different disease
- Peutz-Jeghers syndrome is also caused by STK11 variants; they fall mostly in different places as the Carcinoma of pancreas variants (24 disease-causing).
- Melanoma, cutaneous malignant, susceptibility to, 8 is also caused by STK11 variants; they fall mostly in different places as the Carcinoma of pancreas variants (4 disease-causing).
- Li-Fraumeni syndrome is also caused by TP53 variants; they fall mostly in different places as the Carcinoma of pancreas variants (188 disease-causing).
- Adrenocortical carcinoma, hereditary is also caused by TP53 variants; they fall mostly in different places as the Carcinoma of pancreas variants (23 disease-causing).
- Acute myeloid leukemia is also caused by TP53 variants; they fall mostly in different places as the Carcinoma of pancreas variants (6 disease-causing).
- Familial cancer of breast is also caused by TP53 variants; they fall mostly in different places as the Carcinoma of pancreas variants (5 disease-causing).
- Glioma susceptibility 1 is also caused by TP53 variants; they fall mostly in different places as the Carcinoma of pancreas variants (5 disease-causing).
- Juvenile polyposis syndrome is also caused by SMAD4 variants; they fall mostly in different places as the Carcinoma of pancreas variants (18 disease-causing).
- Familial thoracic aortic aneurysm and aortic dissection is also caused by SMAD4 variants; they fall mostly in different places as the Carcinoma of pancreas variants (12 disease-causing).
Diseases related to Carcinoma of pancreas
- Familial pancreatic carcinoma, also linked to SMAD4, STK11 and TP53
- Breast-ovarian cancer, familial, susceptibility to, 1, also linked to STK11 and TP53
- Lung adenocarcinoma, also linked to STK11 and TP53
- Breast and/or ovarian cancer, also linked to STK11 and TP53
- Familial thoracic aortic aneurysm and aortic dissection, also linked to SMAD4
- Li-Fraumeni syndrome, also linked to TP53
- Acute myeloid leukemia, also linked to TP53
- Juvenile polyposis syndrome, also linked to SMAD4
- Peutz-Jeghers syndrome, also linked to STK11
- Familial cancer of breast, also linked to TP53
- Adrenocortical carcinoma, hereditary, also linked to TP53
- Colorectal cancer, also linked to TP53
Frequently asked questions
Which genes are linked to Carcinoma of pancreas?
In CATVariant, Carcinoma of pancreas is linked to 3 analyzed proteins: STK11 (Serine/threonine-protein kinase STK11), TP53 (Cellular tumor antigen p53) and SMAD4 (SMAD family member 4).
How many genetic variants are linked to Carcinoma of pancreas?
18 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 15 are of uncertain significance or have conflicting reports.
Which uncertain variants in Carcinoma of pancreas 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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