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Genetic Investigation of Cancer Predisposition

NCT04620278•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.

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.

Eligibility

Age

All ages

Sex

ALL

Healthy Volunteers

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

Locations (1)

University of Texas Health Science Center

San Antonio, Texas, United States

Key Dates

Start Date

October 1, 2026

Primary Completion Date

June 1, 2030

Completion Date

December 1, 2035

Last Updated

January 6, 2026

Enrollment

100

ESTIMATED participants

Conditions

Genetic PredispositionCancer

Interventions

DNA or RNA Sequencing

GENETIC

Contacts

Patricia L Dahia, MD, PhD

CONTACT

210-567-4866 dahia@uthscsa.edu

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Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: January 6, 2026Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

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Genetic Investigation of Cancer Predisposition

Inclusion Criteria

Exclusion Criteria

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