Genetic Investigation of Cancer Predisposition
The University of Texas Health Science Center at San Antonio
Summary
Clinical information and samples (blood, saliva, and tumor) will be collected from patients with multiple cancers and/or a family history of cancer as well as from affected and unaffected relatives; samples will be systematically sequenced and evaluated for candidate driver mutations.
Description
Genetic screening will be performed on DNA (and/or RNA) isolated from collected samples from affected individuals by whole exome sequencing or RNA sequencing using in-house pipeline to identify candidate sequence variants. These variants will be tested for segregation with the phenotype in other relatives (affected/unaffected). Candidate variants will be subjected to additional downstream analysis, to be guided by the actual type of gene/variant.
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: 1. Any age 2. Meets at least ONE of the following: 1. Personal history (with documented diagnosis) of cancer before the age of 50 2. Personal history of more than one primary cancer 3. Documented diagnosis of cancer AND family history of that same cancer type or multiple other cancers that do not fit classical criteria of hereditary cancer syndromes 4. Documented diagnosis of a rare cancer AND family history of rare cancers that do not fit classical criteria of hereditary cancer syndromes 5. There is the same type of cancer in several generations of a famil…
Interventions
- GeneticDNA or RNA Sequencing
Samples will be used for whole exome (DNA) or RNA sequencing
Location
- University of Texas Health Science CenterSan Antonio, Texas