Genetic Investigation of Cancer Predisposition

NCT ID: NCT04620278

Last Updated: 2026-01-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2026-10-31

Study Completion Date

2035-12-31

Brief Summary

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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

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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

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Genetic Predisposition Cancer

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Interventions

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DNA or RNA Sequencing

Samples will be used for whole exome (DNA) or RNA sequencing

Intervention Type GENETIC

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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The University of Texas Health Science Center at San Antonio

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Patricia L Dahia, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

University of Texas Health at San Antonio

Locations

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University of Texas Health Science Center

San Antonio, Texas, United States

Site Status

Countries

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United States

Central Contacts

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Patricia L Dahia, MD, PhD

Role: CONTACT

210-567-4866

Other Identifiers

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HSC20200666H

Identifier Type: -

Identifier Source: org_study_id

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