Genomic Analysis of Families With a History of Discordant Cancers
Case Comprehensive Cancer Center
150 participants
Nov 17, 2020
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria4
- 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 Criteria4
- 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.
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Interventions
Sequencing will be performed on an Illumina sequencing system
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
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
Participant will provide a saliva sample which be shipped to University Hospitals Laborator site at room temperature
Locations(1)
View Full Details on ClinicalTrials.gov
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NCT04860453