Genetic Investigation of Cancer Predisposition

NCT04620278 | Not Yet Recruiting

• 1 other identifier: HSC20200666H
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Genetic Predisposition; Cancer

Keywords

Genetic analysis; Early diagnosis

Outcome Measures

Primary Outcomes (3)

• 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 Outcomes (1)

• Identification of clinical spectrum of the disease in families

  through study completion- approximately 6-12 months

Interventions

DNA or RNA Sequencing GENETIC

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• Established genetic diagnosis of a known hereditary cancer syndrome that is compatible with the clinical presentation
• Incarcerated

Sponsors & Collaborators

• The University of Texas Health Science Center at San Antonio: lead

Study Sites (1)

University of Texas Health Science Center

San Antonio, Texas, 78229, United States

Location

MeSH Terms

Conditions

Genetic Predisposition to Disease; Neoplasms; Disease

Interventions

DNA; Sequence Analysis, RNA

Condition Hierarchy (Ancestors)

Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Nucleic Acids; Nucleic Acids, Nucleotides, and Nucleosides; Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Officials

• Patricia L Dahia, MD, PhD

  University of Texas Health at San Antonio

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Patricia L Dahia, MD, PhD

CONTACT

210-567-4866; dahia@uthscsa.edu

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Target Duration: 60 Months
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 5, 2020
• First Posted: November 6, 2020
• Study Start (Estimated): October 1, 2026
• Primary Completion (Estimated): June 1, 2030
• Study Completion (Estimated): December 1, 2035
• Last Updated: January 6, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• 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
• Access Criteria: PI will provide coded data to collaborators who have signed an MTA agreement. These collaborators will not have access to identifiable data

Locations

US (1)