Genetic Investigation of Cancer Predisposition

Cancer Clinical Trial

Official title:

Genetic Investigation of Cancer Predisposition

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT04620278
• Other study ID #: HSC20200666H
• Status: Not yet recruiting
• Start date: October 2024
• Est. completion date: December 2035

Study information

• Verified date: January 2024
• Source: The University of Texas Health Science Center at San Antonio
• Contact: Patricia L Dahia, MD, PhD
• Phone: 210-567-4866
• Email: dahia[@]uthscsa.edu
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical 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.

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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 100
• Est. completion date: December 2035
• Est. primary completion date: June 2030
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Cancer
• Disease Susceptibility
• Genetic Predisposition
• Genetic Predisposition to Disease

Intervention

Genetic:
• DNA or RNA Sequencing
Samples will be used for whole exome (DNA) or RNA sequencing

Locations

Country	Name	City	State
United States	University of Texas Health Science Center	San Antonio	Texas

Sponsors (1)

Lead Sponsor	Collaborator
The University of Texas Health Science Center at San Antonio

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of Rare Genetic Variant	Genetic screen detects a mutation that is likely responsible for tumor development	through study completion- approximately 6-12 months
Primary	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
Primary	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	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