Familial pancreatic carcinoma: genes and variants
Familial pancreatic carcinoma is linked to 8 analyzed proteins (STK11, KRAS, PALB2, SMAD4, TP53, ATM, BRCA1 and BRCA2). 4 DNA variants are known to cause it; 25 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 Familial pancreatic carcinoma
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.
2 disease-causing and 11 uncertain variants in STK11 are linked to Familial pancreatic carcinoma.
KRAS: GTPase KRas
A small GTPase that acts as a molecular switch in the RAS-MAPK signaling pathway. By cycling between GDP- and GTP-bound states, it relays growth and survival signals, and activating KRAS variants are common drivers of cancer.
2 disease-causing and 0 uncertain variants in KRAS are linked to Familial pancreatic carcinoma.
PALB2: Partner and localizer of BRCA2
It physically links BRCA1 and BRCA2 and helps recruit BRCA2-RAD51 repair machinery to DNA double-strand breaks. Heterozygous loss-of-function variants substantially increase breast and pancreatic cancer risk, while biallelic variants cause Fanconi anemia subtype N.
0 disease-causing and 6 uncertain variants in PALB2 are linked to Familial pancreatic carcinoma.
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.
0 disease-causing and 5 uncertain variants in SMAD4 are linked to Familial pancreatic 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.
0 disease-causing and 2 uncertain variants in TP53 are linked to Familial pancreatic carcinoma.
ATM: Serine-protein kinase ATM
It is activated by DNA double-strand breaks and coordinates checkpoint arrest, repair, and apoptosis through phosphorylation of numerous targets. Biallelic loss causes ataxia-telangiectasia, while heterozygous pathogenic variants increase susceptibility to several cancers.
0 disease-causing and 0 uncertain variants in ATM are linked to Familial pancreatic carcinoma.
BRCA1: Breast cancer type 1 susceptibility protein
It coordinates DNA-damage signaling and homologous-recombination repair while helping protect stalled replication forks and chromosome integrity. Germline loss-of-function variants strongly predispose to breast and ovarian cancer and increase risk for several other malignancies.
0 disease-causing and 0 uncertain variants in BRCA1 are linked to Familial pancreatic carcinoma.
BRCA2: Breast cancer type 2 susceptibility protein
It loads RAD51 onto damaged DNA to enable homologous recombination and also protects stressed replication forks from degradation. Germline loss-of-function variants strongly predispose to breast, ovarian, prostate, pancreatic, and other cancers.
0 disease-causing and 0 uncertain variants in BRCA2 are linked to Familial pancreatic carcinoma.
Weakly linked (only a few uncertain records): CDKN2A.
Known disease-causing variants in Familial pancreatic carcinoma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRAS G13D | 13 | Disease-causing (★★) | |
| STK11 G163R | 163 | Protein kinase | Disease-causing (★★) |
| STK11 W308L | 308 | Protein kinase | Disease-causing (★★) |
| KRAS A146V | 146 | Disease-causing |
Same protein, different disease
- Peutz-Jeghers syndrome is also caused by STK11 variants; they fall mostly in different places as the Familial pancreatic carcinoma variants (24 disease-causing).
- RASopathy is also caused by KRAS variants; they fall mostly in different places as the Familial pancreatic carcinoma variants (23 disease-causing).
- Noonan syndrome is also caused by KRAS variants; they fall mostly in different places as the Familial pancreatic carcinoma variants (16 disease-causing).
- Cardiofaciocutaneous syndrome is also caused by KRAS variants; they fall mostly in different places as the Familial pancreatic carcinoma variants (9 disease-causing).
- Autoimmune lymphoproliferative syndrome is also caused by KRAS variants; they fall in the same places as the Familial pancreatic carcinoma variants (5 disease-causing).
- Non-small cell lung carcinoma is also caused by KRAS variants; they fall mostly in different places as the Familial pancreatic carcinoma variants (5 disease-causing).
Diseases related to Familial pancreatic carcinoma
- Hereditary breast ovarian cancer syndrome, also linked to ATM, BRCA1, BRCA2, KRAS and 2 more
- Breast-ovarian cancer, familial, susceptibility to, 1, also linked to BRCA1, BRCA2, PALB2, STK11 and 1 more
- Familial cancer of breast, also linked to ATM, KRAS, PALB2 and TP53
- Gastric cancer, also linked to ATM, KRAS, PALB2 and TP53
- Ovarian cancer, also linked to ATM, BRCA1 and BRCA2
- Acute myeloid leukemia, also linked to KRAS, PALB2 and TP53
- Colorectal cancer, also linked to ATM, KRAS and TP53
- Ovarian neoplasm, also linked to BRCA1, BRCA2 and TP53
- Lung adenocarcinoma, also linked to KRAS, STK11 and TP53
- Carcinoma of pancreas, also linked to SMAD4, STK11 and TP53
- Fanconi anemia, also linked to BRCA2 and PALB2
- Non-small cell lung carcinoma, also linked to KRAS and STK11
Frequently asked questions
Which genes are linked to Familial pancreatic carcinoma?
In CATVariant, Familial pancreatic carcinoma is linked to 8 analyzed proteins: STK11 (Serine/threonine-protein kinase STK11), KRAS (GTPase KRas), PALB2 (Partner and localizer of BRCA2), SMAD4 (SMAD family member 4), TP53 (Cellular tumor antigen p53), ATM (Serine-protein kinase ATM) and 2 more.
How many genetic variants are linked to Familial pancreatic carcinoma?
35 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 25 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial pancreatic 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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