Germline Mutations in Pancreatic Adenocarcinoma

NCT03982446 | Completed

• 1 other identifier: Germline_pancreas
• Study Type: observational
• Target: 549
• Locations: 1 country
• Sites: 1

Brief Summary

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

Germline Mutation Abnormality; Pancreatic Cancer; Predisposition, Genetic; Hereditary Cancer

Outcome Measures

Primary Outcomes (1)

• Overall Survival

  Evaluation of overall survival in patients with pancreatic cancer, from the date of treatment start until verified disease progression, death from any cause or date of last contact whichever occurred first

  Time Frame: through the completion of the study, up to 2 years

Study Arms (2)

Patients with germline mutations

This group will comprise of patients with pancreatic cancer who carry pathogenic mutations in genes associated with a predisposition to cancer.

Genetic: Mutations

Patients without germline mutations

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.

Genetic: Mutations

Interventions

Mutations GENETIC

Patients with germline mutations; Patients without germline mutations

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Genomic DNA from patients with pancreatic cancer will be retrospectively and prospectively collected from the Hellenic Cooperative Oncology Group (HeCOG) Tumor Repository, through years 2000-2019. Written informed consent has already been obtained from all patients for the use and storage of their biologic material along with their approval for their participation in research studies. The study will be in agreement with the 1975 Helsinki statement, revised in 1983.

You may qualify if:

• Patients diagnosed with adenocarcinoma of the pancreas
• All disease stages

You may not qualify if:

• Patients with pancreatic cancer, other than adenocarcinoma
• Non-eligible blood samples

Sponsors & Collaborators

• Hellenic Cooperative Oncology Group: lead

Study Sites (1)

Hellenic Oncology Cooperative Group

Athens, Greece

Location

Related Publications (1)

• Fountzilas 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 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Germline DNA from white blood cells will be isolated using a commercially available blood DNA extraction kit. Remaining germline DNA will be safely stored in HeCOG's repository.

MeSH Terms

Conditions

Pancreatic Neoplasms; Genetic Predisposition to Disease

Interventions

Mutation

Condition Hierarchy (Ancestors)

Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Endocrine Gland Neoplasms; Digestive System Diseases; Pancreatic Diseases; Endocrine System Diseases; Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Genetic Variation; Genetic Phenomena

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 3, 2019
• First Posted: June 11, 2019
• Study Start: March 1, 2016
• Primary Completion: November 1, 2019
• Study Completion: January 3, 2020
• Last Updated: February 12, 2021

Record last verified: 2020-02

Data Sharing

• IPD Sharing: Will not share

Locations

GR (1)