Genetic PredispositionNCT04620278
Genetic Investigation of Cancer Predisposition
An observational study of Genetic Predisposition and Cancer, run by The University of Texas Health Science Center at San Antonio at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Genetic Predisposition, Cancer
- What is being tested?
- DNA or RNA Sequencing
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 2026to Dec 2035
- How long will I take part?
- 60 Months
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with a family history of cancer or with a personal history of multiple cancers that might suggest increased genetic predisposition, but for which an identifiable susceptibility mutation has not been detected.
Who may be able to join
- 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
Show all 9Show fewer
- 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
Who cannot join
- Established genetic diagnosis of a known hereditary cancer syndrome that is compatible with the clinical presentation
- Incarcerated
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
University of Texas Health Science Center
San Antonio, Texas, 78229
About this study
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.
Read the 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.
- Conditions
- Genetic Predisposition, Cancer
- Being tested
- DNA or RNA Sequencing
- Keywords
- Genetic analysis, Early diagnosis
- Medical subject headings
- Genetic Predisposition to Disease, Neoplasms, Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
DNA or RNA SequencingGenetic
Samples will be used for whole exome (DNA) or RNA sequencing
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of Rare Genetic Variant
Genetic screen detects a mutation that is likely responsible for tumor development
Measured: through study completion- approximately 6-12 months
Identification of somatic (tumor only) mutation
Genetic screen detects a mutation that is likely responsible for tumor development
Measured: through study completion- approximately 6-12 months
Identification of Rare Genetic Variant in family members
Genetic screen detects a mutation that is likely responsible for tumor development
Measured: through study completion- approximately 6-12 months
Secondary outcomes (1)
Identification of clinical spectrum of the disease in families
Genetic and clinical analysis reveals clinical features not previously assigned to the disease
Measured: through study completion- approximately 6-12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Nov 2020
- Study startOct 2026 (estimated)
- Primary completionJun 2030 (estimated)
- Study completionDec 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic PredispositionStudies of the same condition, open and under way.
- More trials run by The University of Texas Health Science Center at San AntonioThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
- Target duration
- 60 Months
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Patricia L Dahia, MD, PhD, Principal investigator, University of Texas Health at San Antonio
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04620278
- Sponsor's protocol ID
- HSC20200666H
- Status last verified
- Jan 2026
- First submitted
- 5 Nov 2020
- Last updated
- 6 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: All information exchanged between the local investigator/referring physician and the PI will be made through the unique identifiers to maintain patient confidentiality
Study at a glance
From the registry record, last updated by the sponsor on 6 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Investigation of Cancer Predisposition
- ClinicalTrials.gov ID
- NCT04620278
- Acronym / sponsor ID
- HSC20200666H
- Conditions
- Genetic Predisposition, Cancer
- Keywords
- Genetic analysis, Early diagnosis
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- The University of Texas Health Science Center at San AntonioUniversity, hospital or other
- Study start
- Oct 2026 (estimated)
- Primary completion
- Jun 2030 (estimated)
- Study completion
- Dec 2035 (estimated)
- First posted
- 6 Nov 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Target follow-up
- 60 Months
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with a family history of cancer or with a personal history of multiple cancers that might suggest increased genetic predisposition, but for which an identifiable susceptibility mutation has not been detected.
Key inclusion criteria (9 listed)
- Any age
- Meets at least ONE of the following:
Key exclusion criteria (2 listed)
- Established genetic diagnosis of a known hereditary cancer syndrome that is compatible with the clinical presentation
- Incarcerated
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| DNA or RNA SequencingSamples will be used for whole exome (DNA) or RNA sequencing | Genetic | – |
Primary outcome
Identification of Rare Genetic Variant
Time frame: 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
Time frame: 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
Time frame: through study completion- approximately 6-12 months
Genetic screen detects a mutation that is likely responsible for tumor development
1 secondary outcome
Identification of clinical spectrum of the disease in families
Time frame: through study completion- approximately 6-12 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Jan 2026.
- Individual participant dataSharing planned: Yes. All information exchanged between the local investigator/referring physician and the PI will be made through the unique identifiers to maintain patient confidentiality
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Patricia L Dahia, MD, PhD principal investigator
University of Texas Health at San Antonio
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Predisposition and Cancer, run by The University of Texas Health Science Center at San Antonio at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 6 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Patricia L Dahia, MD, PhD (210-567-4866, dahia@uthscsa.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of Rare Genetic Variant (time frame: through study completion- approximately 6-12 months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Jan 2026.