Clinical trial · Observational
Germline Mutations in Pancreatic Adenocarcinoma
Prevalence of Germline Pathogenic Mutations in Patients With Pancreatic Adenocarcinoma
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
This study will assess the hereditary component of pancreatic cancer in the largest series of patients up to date through the parallel analysis of 62 cancer-associated genes. The investigators will obtain germline DNA from blood samples that have been collected from 2000 to 2019 from patients with pancreatic cancer. The investigators plan to analyze germline DNA for mutations and single nucleotide polymorphisms (SNPs) in genes that have been previously linked to a predisposition towards cancer. The outcome can provide useful insight on the overall understanding of pancreatic pathogenesis while possible associations with age of diagnosis, tumor stage and other cancer types might arise. In addition to that, it can lead to the characterization of new variants or even new genes that predispose to pancreatic cancer. Confirmed deleterious mutations in established cancer genes can provide valuable clinical information that can lead to effective, individualized patient management. Furthermore, family relatives of the individuals found to carry mutations can also benefit from established screening protocols for various cancer types, such as frequent colonoscopies in the case of an MMR mutation predisposing for Lynch syndrome, or preventative surgeries in the case of a deleterious BRCA1 or BRCA2 mutation. In addition to that, specific therapies that have been previously shown to be effective in breast or ovarian cancer patients with BRCA1 \& BRCA2 mutations, such as platinum-based chemotherapy and PARP inhibitors can be also effective in mutations carriers with pancreatic cancer.
Conditions
Conditions (4)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Germline Mutation Abnormality | — | UNRESOLVED | — |
| Hereditary Cancer | Hereditary Malignant Neoplasm | ALIAS | 0.90 |
| Pancreatic Cancer | Malignant Pancreatic Neoplasm | CURATED_EXACT | 0.92 |
| Predisposition, Genetic | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Mutations | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- label
- Patients with germline mutations
- description
- This group will comprise of patients with pancreatic cancer who carry pathogenic mutations in genes associated with a predisposition to cancer.
- interventionNames
- Genetic: Mutations
- label
- Patients without germline mutations
- description
- This group will comprise of patients with pancreatic cancer who did not carry pathogenic mutations in any of the genes tested, that have been previously shown to be associated with a predisposition to cancer.
- interventionNames
- Genetic: Mutations
Primary outcomes (1)
- measure
- Overall Survival
- timeFrame
- Time Frame: through the completion of the study, up to 2 years
- description
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
- Maximum age
- 90 Years
Show eligibility criteria text
Inclusion Criteria: * Patients diagnosed with adenocarcinoma of the pancreas * All disease stages Exclusion criteria * Patients with pancreatic cancer, other than adenocarcinoma * Non-eligible blood samples
References
Publications (1)
- DERIVEDFountzilas E, Eliades A, Koliou GA, Achilleos A, Loizides C, Tsangaras K, Pectasides D, Sgouros J, Papakostas P, Rallis G, Psyrri A, Papadimitriou C, Oikonomopoulos G, Ferentinos K, Koumarianou A, Zarkavelis G, Dervenis C, Aravantinos G, Bafaloukos D, Kosmidis P, Papaxoinis G, Theochari M, Varthalitis I, Kentepozidis N, Rigakos G, Saridaki Z, Nikolaidi A, Christopoulou A, Fostira F, Samantas E, Kypri E, Ioannides M, Koumbaris G, Fountzilas G, Patsalis PC. Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma. Cancers (Basel). 2021 Jan 8;13(2):198. doi: 10.3390/cancers13020198. PMID 33429865