Cancer, Genetic Predisposition
Conditions
Keywords
Genetic analysis, Early diagnosis
Brief 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.
Detailed 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.
Interventions
GENETICDNA or RNA Sequencing
Samples will be used for whole exome (DNA) or RNA sequencing
Sponsors
The University of Texas Health Science Center at San Antonio
Study design
Observational model
FAMILY_BASED
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
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 family 6. Documented diagnosis of multicentric cancers (e.g bilateral cancers in paired organs, or multifocal cancers in single organs) that usually occur as single lesions when presented sporadically 7. Early onset cancer (before the age of 50, or breast cancer before age 45) AND family history of early onset cancer Capable of providing access to detailed medical records and family history of cancer
Exclusion criteria
1. Established genetic diagnosis of a known hereditary cancer syndrome that is compatible with the clinical presentation 2. Incarcerated
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identification of Rare Genetic Variant | through study completion- approximately 6-12 months | Genetic screen detects a mutation that is likely responsible for tumor development |
| Identification of somatic (tumor only) mutation | through study completion- approximately 6-12 months | Genetic screen detects a mutation that is likely responsible for tumor development |
| Identification of Rare Genetic Variant in family members | through study completion- approximately 6-12 months | Genetic screen detects a mutation that is likely responsible for tumor development |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Identification of clinical spectrum of the disease in families | through study completion- approximately 6-12 months | Genetic and clinical analysis reveals clinical features not previously assigned to the disease |
Countries
United States
Contacts
Primary ContactPatricia L Dahia, MD, PhD
Outcome results
None listed