Genetic Investigation of Cancer Predisposition

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Cancer; Genetic Predisposition
• Intervention / Treatment: Genetic: DNA or RNA Sequencing

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 Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Patricia L Dahia, MD, PhD; Phone Number: 210-567-4866; Email: dahia@uthscsa.edu

Study Locations

• United States
  • Texas
    • San Antonio, Texas, United States, 78229
      • University of Texas Health Science Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

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.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Family-Based
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identification of Rare Genetic Variant	Genetic screen detects a mutation that is likely responsible for tumor development	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	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	through study completion- approximately 6-12 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identification of clinical spectrum of the disease in families	Genetic and clinical analysis reveals clinical features not previously assigned to the disease	through study completion- approximately 6-12 months

Collaborators and Investigators

• Sponsor: The University of Texas Health Science Center at San Antonio
• Investigators: Principal Investigator: Patricia L Dahia, MD, PhD, University of Texas Health at San Antonio

Study record dates

Study Major Dates

• Study Start (Estimated): October 1, 2026
• Primary Completion (Estimated): June 1, 2030
• Study Completion (Estimated): December 1, 2035

Study Registration Dates

• First Submitted: November 5, 2020
• First Submitted That Met QC Criteria: November 5, 2020
• First Posted (Actual): November 6, 2020

Study Record Updates

• Last Update Posted (Estimated): January 6, 2026
• Last Update Submitted That Met QC Criteria: January 2, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: Early diagnosis; Genetic analysis
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Disease Susceptibility; Pathological Conditions, Signs and Symptoms; Neoplasms; Disease; Genetic Predisposition to Disease; Investigative Techniques; Nucleic Acids; Nucleic Acids, Nucleotides, and Nucleosides; Genetic Techniques; Sequence Analysis; Sequence Analysis, RNA; DNA
• Other Study ID Numbers: HSC20200666H

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: All information exchanged between the local investigator/referring physician and the PI will be made through the unique identifiers to maintain patient confidentiality
• IPD Sharing Time Frame: Since the age-related penetrance of the disease is not known, it may be many years before an individual changes his/her affection status. Thus, the clinical updates remain open-ended
• IPD Sharing Access Criteria: PI will provide coded data to collaborators who have signed an MTA agreement. These collaborators will not have access to identifiable data
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No