Genetic Investigation of Cancer Predisposition

• Sponsor: The University of Texas Health Science Center at San Antonio (Other)
• Overall Status: Not yet recruiting
• CT.gov ID: NCT04620278
• Collaborator: (none)
• Enrollment: 100
• Location: 1
• Anticipated Duration (Months): 162
• Patients Per Site Per Month: 0.6

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Genetic Predisposition; Cancer	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 Design

• Study Type: Observational [Patient Registry]
• Anticipated Enrollment: 100 participants
• Observational Model: Family-Based
• Time Perspective: Prospective
• Official Title: Genetic Investigation of Cancer Predisposition
• Anticipated Study Start Date: Jun 1, 2022
• Anticipated Primary Completion Date: Jun 1, 2030
• Anticipated Study Completion Date: Dec 1, 2035

Outcome Measures

Primary Outcome Measures

1. Identification of Rare Genetic Variant [through study completion- approximately 6-12 months]

   Genetic screen detects a mutation that is likely responsible for tumor development

2. Identification of somatic (tumor only) mutation [through study completion- approximately 6-12 months]

   Genetic screen detects a mutation that is likely responsible for tumor development

3. Identification of Rare Genetic Variant in family members [through study completion- approximately 6-12 months]

   Genetic screen detects a mutation that is likely responsible for tumor development

Secondary Outcome Measures

1. Identification of clinical spectrum of the disease in families [through study completion- approximately 6-12 months]

   Genetic and clinical analysis reveals clinical features not previously assigned to the disease

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

Inclusion Criteria:

1. Any age

2. Meets at least ONE of the following:

3. Personal history (with documented diagnosis) of cancer before the age of 50

4. Personal history of more than one primary cancer

5. 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

6. Documented diagnosis of a rare cancer AND family history of rare cancers that do not fit classical criteria of hereditary cancer syndromes

7. There is the same type of cancer in several generations of a family

8. 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

9. 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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	University of Texas Health Science Center	San Antonio	Texas	United States	78229

Sponsors and Collaborators

• 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 Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: The University of Texas Health Science Center at San Antonio
• ClinicalTrials.gov Identifier: NCT04620278
• Other Study ID Numbers: HSC20200666H
• First Posted: Nov 6, 2020
• Last Update Posted: Mar 7, 2022
• Last Verified: Mar 1, 2022

• Individual Participant Data (IPD) Sharing Statement: Yes
• Plan to Share IPD: Yes
• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Keywords provided by The University of Texas Health Science Center at San Antonio: Genetic analysis; Early diagnosis
• Additional relevant MeSH terms: Disease Susceptibility; Genetic Predisposition to Disease

Study Results

No Results Posted as of Mar 7, 2022