Genomic Analysis of Families With a History of Discordant Cancers
Case Comprehensive Cancer Center
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.
Description
Data for this study will be obtained via both retrospectively and prospectively. Affected individuals (who have cancer) with a family history suggestive of a known hereditary syndrome or meeting National Comprehensive Cancer Network (NCCN) criteria will be accrued from routine clinical care to form a "real world" baseline of diagnostic yield using a multicancer panel. These participants will not be additionally consented for WES as part the clinical study. Other affected individuals identified as having five or more relatives with discordant cancers will receive standard of care (SOC) multica…
Eligibility
- Age range
- 18–100 years
- Sex
- All
- Healthy volunteers
- No
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…
Interventions
- GeneticWES via Illumina NextSeq 550 sequencing system
Sequencing will be performed on an Illumina sequencing system
- Diagnostic TestBlood 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 TestSkin 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 TestSaliva Sample
Participant will provide a saliva sample which be shipped to University Hospitals Laborator site at room temperature
Location
- University Hospitals Cleveland Medical Center, Case Comprehensive Cancer CenterCleveland, Ohio