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

Two Cancers, One Gene

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.

Study Overview

• Status: Completed
• Conditions: Melanoma; Pancreas Cancer

• Study Type: Observational
• Enrollment (Actual): 3

Contacts and Locations

Study Locations

• United States
  • Minnesota
    • Rochester, Minnesota, United States, 55902
      • Mayo Clinic

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Participants and family members of participants currently enrolled under IRB #354-06 and #355-06 who have been identified as members of a family with at least one blood related relative with pancreas cancer, and there is a known mutation carrier of CDKN2A. Some of the family members may have previously enrolled in IRB protocol #354-06 or #355-06; others may not have ever participated in research.

Description

Inclusion Criteria:

• 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.

Exclusion Criteria:

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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.

Collaborators and Investigators

• Sponsor: Mayo Clinic
• Collaborators: National Cancer Institute (NCI)
• Investigators: Principal Investigator: Gloria Petersen, Ph.D., Mayo Clinic

Publications and helpful links

Helpful Links

• Mayo Clinic Clinical Trials

Study record dates

Study Major Dates

• Study Start (Actual): August 17, 2016
• Primary Completion (Actual): January 25, 2019
• Study Completion (Actual): January 25, 2019

Study Registration Dates

• First Submitted: May 31, 2017
• First Submitted That Met QC Criteria: May 31, 2017
• First Posted (Actual): June 2, 2017

Study Record Updates

• Last Update Posted (Actual): June 16, 2022
• Last Update Submitted That Met QC Criteria: June 15, 2022
• Last Verified: June 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Neoplasms by Histologic Type; Neoplasms; Neoplasms by Site; Endocrine System Diseases; Digestive System Neoplasms; Endocrine Gland Neoplasms; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms, Nerve Tissue; Pancreatic Diseases; Neuroendocrine Tumors; Nevi and Melanomas; Pancreatic Neoplasms; Melanoma
• Other Study ID Numbers: 16-005414; R01CA208517 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No