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Genomic Analysis of Families With a History of Discordant Cancers

NCT04860453 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 150

Last updated 2025-09-03

No results posted yet for this study

Summary

The purpose of this study is to identify novel gene mutations which have contributed to significant personal and family history of cancer. Adults with and without cancer will be accrued to the study. Participants qualify to take part in this research study because someone in their family has been diagnosed with or because they themselves have a cancer diagnosis.

Participants' DNA and other clinical information will be obtained from a blood sample in order to study the genetic basis of cancer and related complications. All portions in the DNA that code for proteins (i.e., the exome) will be studied. Participant DNA sample and information about family structure and family medical history and ethnic origin may also be collected to better understand this information. Clinical information will be stored and biological samples, including DNA, will be kept for up to three (3) years after collection for future. Ultimately, once identified, the role of the specific genetics changes in the development of inherited cancer(s) will be characterized.

Conditions

  • Discordant Cancers

Interventions

GENETIC

WES via Illumina NextSeq 550 sequencing system

Sequencing will be performed on an Illumina sequencing system

DIAGNOSTIC_TEST

Blood Draw

Blood draw will be via any University Hospitals Laboratory site and sent at room temperature via courier to the Center for Human Genetics (CHG) Laboratory

DIAGNOSTIC_TEST

Skin biopsy

Skin samples obtained via 3mm punch biopsy will be suspended in cell culture media prepared per CHG routine and sent via courier to the Center for Human Genetics Laboratory

DIAGNOSTIC_TEST

Saliva Sample

Participant will provide a saliva sample which be shipped to University Hospitals Laborator site at room temperature

Sponsors & Collaborators

  • Case Comprehensive Cancer Center

    lead OTHER

Principal Investigators

  • Anna Mitchell, MD PhD · University Hospitals Cleveland Medical Center, Case Comprehensive Cancer Center

Eligibility

Min Age
18 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-11-17
Primary Completion
2028-07-01
Completion
2028-07-01

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04860453 on ClinicalTrials.gov