Genomic analysis of families with different types of cancer
Genomic Analysis of Families With a History of Discordant Cancers
This study is testing whether analyzing the DNA of families with a strong history of different types of cancer can help find new gene mutations linked to those cancers.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 150 (estimated) |
| Ages | 18 Years to 100 Years |
| Sex | All |
| Sponsor | Case Comprehensive Cancer Center Academic / other |
| Locations | 1 site (Cleveland, Ohio) |
| Trial ID | NCT04860453 on ClinicalTrials.gov |
What this trial studies
This study aims to identify novel gene mutations linked to a family history of discordant cancers by analyzing DNA from both affected and unaffected family members. Participants will provide blood samples for whole exome sequencing (WES) to explore the genetic basis of cancer. The study will include individuals with a significant family history of cancer, focusing on those with five or more relatives diagnosed with different types of cancer. Clinical information and family medical histories will also be collected to enhance understanding of genetic factors in cancer development.
Who should consider this trial
Good fit: Ideal candidates include adults with a family history of discordant cancers and those who have been diagnosed with cancer themselves.
Not a fit: Patients with known high penetrance cancer susceptibility genes or those unable to provide a blood sample will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and identification of inherited cancer syndromes, potentially improving cancer prevention and treatment strategies.
How similar studies have performed: Other studies have shown success in identifying genetic mutations related to cancer, making this approach promising but still exploring novel aspects.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Affected patient with a family history suggestive of a known hereditary syndrome or meeting NCCN criteria for germline testing and consent to a multicancer panel --This cohort is meant as a real world control group receiving routine standard of care and is not eligible for WES. * Affected patient with a family history of 5 or more discordant cancers in unilateral descent within a 3-generation pedigree. * Unaffected family members within such kindreds will be eligible for WES as long as a minimum of 2 affected and 1 unaffected family members consent to WES as trial participants. Exclusion Criteria: * Unable to safely provide a blood sample for genetic testing * Unable to receive or decline to receive genetic counselling through the telephone, video conference, or in person * Families known to segregate a previously identified high penetrance cancer susceptibility gene identified through routine medical genetics evaluation are not eligible WES * Family is not amenable to routine medical genetics SOC genetics evaluation.
Where this trial is running
Cleveland, Ohio
- University Hospitals Cleveland Medical Center, Case Comprehensive Cancer Center — Cleveland, Ohio, United States (Recruiting)
Study contacts
- Principal investigator: Anna Mitchell, MD PhD — University Hospitals Cleveland Medical Center, Case Comprehensive Cancer Center
- Study coordinator: Anna Mitchell, MD PhD
- Email: CTUReferral@UHhospitals.org
- Phone: 1-800-641-2422
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.