Genetic Investigation of Cancer Predisposition
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: DNA or RNA Sequencing.
- Who it may be relevant to
- Registry conditions: Genetic Predisposition, Cancer. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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
- Genetic DNA or RNA Sequencing
Samples will be used for whole exome (DNA) or RNA sequencing
Primary outcome measures
- Identification of Rare Genetic Variant [Time frame: through study completion- approximately 6-12 months]
- Identification of somatic (tumor only) mutation [Time frame: through study completion- approximately 6-12 months]
- Identification of Rare Genetic Variant in family members [Time frame: through study completion- approximately 6-12 months]
Secondary outcome measures (1)
- Identification of clinical spectrum of the disease in families [Time frame: through study completion- approximately 6-12 months]
Eligibility criteria
Inclusion criteria
- Any age
- Meets at least ONE of the following:
- Personal history (with documented diagnosis) of cancer before the age of 50
- Personal history of more than one primary cancer
- 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
- Documented diagnosis of a rare cancer AND family history of rare cancers that do not fit classical criteria of hereditary cancer syndromes
- There is the same type of cancer in several generations of a family
- 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
- 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
- Established genetic diagnosis of a known hereditary cancer syndrome that is compatible with the clinical presentation
- Incarcerated
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Family-based
Study locations
United States · 1 center
- University of Texas Health Science Center — San Antonio
Identifiers
NCT: NCT04620278 · HSC20200666H