Germline Mutations Associated With Hereditary Pancreatic Cancer in Unselected Patients With Pancreatic Cancer in Mexico

October 17, 2022 updated by: Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran

Prevalence Estimation of BRCA1, BRCA2 and Other Germline Mutations Associated With Hereditary Pancreatic Cancer Using a Comprehensive Gene Panel in an Unselected Cohort of Patients With Pancreatic Adenocarcinoma in Mexico

Pancreatic cancer is a highly lethal disease. The cause of pancreatic cancer is multifactorial. However, around 10% of cases are associated with hereditary predisposition. Germline mutations in BRCA1 and BRCA2, CDKN2A, STK11, DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2), PALB2, FANCC, FANCG, and ATM have been associated with an increased risk for pancreatic cancer. The prevalence of these germline mutations varies across populations. For instance, the prevalence of BRCA1/2 germline mutations in high-risk populations can be up to 20%. On the other hand, in unselected patient population, the prevalence of BRCA1/2 germline mutations is 5-7%. In Mexican population, data on the prevalence of BRCA1/2 germline mutations in patients with pancreatic cancer are lacking. Identification of BRCA germline mutations in patients with pancreatic cancer has implications for treatment. Also, it allows genetic testing and counselling for family members. This study will determine the prevalence of germline mutations associated with hereditary pancreatic cancer using a comprehensive gene panel in an unselected cohort of patients with pancreatic adenocarcinoma in Mexico.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

This is an observational study to estimate the prevalence of germline mutations in patients with pancreatic cancer. Eighty four genes will be analyzed, all of which have been associated with hereditary cancer. The genes are included on Invitae Multi-Cancer Panel ®, performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology. The 84 genes include: AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, HRAS, KIT, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1.

Study Type

Observational

Enrollment (Actual)

107

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Mexico
      • Mexico City, Mexico, 14080
        • Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (ADULT, OLDER_ADULT)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

The study population will be patients who are diagnosed within 6 months of enrollment with pancreatic adenocarcinoma.

Description

Inclusion Criteria:

  • Female and male participants ≥ 18 years of age.
  • Diagnosed within the previous 6 months with histologically confirmed pancreatic adenocarcinoma stage I to IV.
  • Participant provides written informed consent for the study.
  • Participant must agree to sample collection and genetic testing using the Invitae Multi-Cancer Panel ®.

Exclusion Criteria:

  • Diagnosed with pancreatic adenocarcinoma more than 6 months before presenting to the clinical site.
  • Diagnosed with intraductal papillary mucinous neoplasms, mucinous cystic neoplasms, pancreatic neuroendocrine tumors.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
BRCA 1/2 germline mutation prevalence
Time Frame: 15 months
To estimate the prevalence of BRCA1 and BRCA2 germline mutations in patients who present to the clinical site within 6 months of a histologically confirmed diagnosis of pancreatic adenocarcinoma.
15 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Other germline mutation prevalence
Time Frame: 15 months
To estimate the prevalence of other germline mutations associated with hereditary pancreatic cancer in patients who present to the clinical site within 6 months of a histologically confirmed diagnosis of pancreatic adenocarcinoma.
15 months
Clinical and pathological characteristics
Time Frame: 15 months
To describe the clinical and pathological characteristics of patients with pancreatic adenocarcinoma and BRCA1, BRCA2 and other germline mutations.
15 months

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
The proportion of blood relatives of germline mutation carriers who accept genetic counseling and genetic testing
Time Frame: 15 months
Number of first degree relatives with a positive genetic test result. Number of first degree relatives with genetic counseling and genetic testing.
15 months
The proportion of germline mutation carriers who accept pancreatic cancer surveillance.
Time Frame: up to 15 months
Number of germline mutation carriers included in a surveillance protocol assessed by abdominal imaging.
up to 15 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

September 9, 2020

Primary Completion (ACTUAL)

June 30, 2022

Study Completion (ACTUAL)

June 30, 2022

Study Registration Dates

First Submitted

June 2, 2021

First Submitted That Met QC Criteria

March 22, 2022

First Posted (ACTUAL)

March 31, 2022

Study Record Updates

Last Update Posted (ACTUAL)

October 18, 2022

Last Update Submitted That Met QC Criteria

October 17, 2022

Last Verified

October 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HEM-3331-20-20-1

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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