Two Cancers, One Gene. Why Some People In Families Develop Melanoma Or Pancreas Cancer, While Still Others Never Develop Cancer.

Study Overview

Two Cancers, One Gene. Why Some People in Families Develop Melanoma or Pancreas Cancer, While Still Others Never Develop Cancer.

Individuals who are affected with pancreas cancer and melanoma as well as those without either cancer who have been identified as 1st or 2nd degree relatives of family members with pancreas cancer and melanoma will be asked to participate. The participant will be asked to complete a survey about their health and family history of cancer and to give a blood sample for specific gene testing and storage for future research studies.The overall goal of this study is to understand the factors that increase susceptibility and expression of pancreatic cancer and melanoma in high risk families.

N/A

Pancreas Cancer
Melanoma

16-005414
R01CA208517 (U.S. NIH Grant/Contract)

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 Registration Dates	Results Reporting Dates	Study Record Updates
First Submitted 2017-05-31	Results First Submitted N/A	Last Update Submitted that met QC Criteria 2022-06-15
First Submitted that Met QC Criteria 2017-05-31	Results First Submitted that Met QC Criteria N/A	Last Update Posted (ACTUAL) 2022-06-16
First Posted (ACTUAL) 2017-06-02	Results First Posted N/A	Last Verified 2022-06

Study Plan

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

Design Details

Primary Purpose:
N/A

Allocation:
N/A

Interventional Model:
N/A

Masking:
N/A

Arms and Interventions

Participant Group/Arm	Intervention/Treatment

Primary Outcome Measures	Measure Description	Time Frame
Genomic and risk factor differences among family members who share identical predisposing CDKN2A gene mutations, with different phenotypes; will discover patterns of tumorigenesis, tissue specificity, gene-gene, and gene-environment interactions.	Genotypes of potential modifier genes will be identified in multiple kindreds that feature pancreatic cancer and melanoma and known to carry CDKN2A germline mutations. The investigators will then determine common germline variants in potential CDKN2A mutant carriers using targeted sequencing and search for genetic modifiers by performing Illumina HumanOmni5Exome-4 Beadchip with Infinium LCG on germline DNA. The Illumina microarray contains over 4.5 million markers, of which 528,675 are exonic, and includes over 2.6 million SNPs that would be considered common. The investigators will analyze the genetic and risk factor data collected through the completed surveys by participants using both statistical genetic and machine learning methods. As a means of extension and potential validation, the investigators will then similarly study up to 200 members who are mutation carriers in 39 other CDKN2A mutation-positive kindreds.	Each participant provides a research blood sample and completes a questionnaire.This is the duration of their the participant's direct involvement. The duration of generating genotypes and analysis of risk factors may extend up to two years.

Secondary Outcome Measures	Measure Description	Time Frame

Contacts and Locations

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

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.

Ages Eligible for Study:
ALL

Sexes Eligible for Study:
18 Years

Accepts Healthy Volunteers:
1

Individuals who are affected with pancreas cancer and melanoma as well as those without either cancer who have been identified as 1st or 2nd degree relatives of family members with pancreas cancer and melanoma.

Under the age of 18, Non-English speaking or unable to provide informed consent, inmates.

Collaborators and Investigators

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

National Cancer Institute (NCI)

Investigators

PRINCIPAL_INVESTIGATOR: Gloria Petersen, Ph.D., Mayo Clinic

Publications

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

General Publications

No publications available

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Resources

Patients

Caregivers

Clinical Trial Record