Universal Endometrial Cancer DNA Sequencing for Detection of Lynch Syndrome and Personalized Care

Endometrial Carcinoma Clinical Trial

— OPTEC  

Official title:

Ohio Prevention and Treatment of Endometrial Cancer (OPTEC) Initiative: Universal Screening for DNA Mismatch Repair Deficiency and Personalized Cancer Treatment

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT03460483
• Other study ID #: OSU-17149
• Secondary ID: NCI-2018-00218
• Status: Active, not recruiting
• Phase: N/A
• Start date: March 30, 2018
• Est. completion date: June 30, 2023

Study information

• Verified date: December 2022
• Source: Ohio State University Comprehensive Cancer Center
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

This clinical trial studies universal screening for deoxyribonucleic acid (DNA) mismatch repair deficiency in patients with endometrial cancer, mutations in the genes responsible for Lynch syndrome (inherited forms of endometrial cancers) and other DNA changes that could help guide treatment strategies. Universal tumor DNA sequencing may help doctors better understand how to personalize care, increase length of life, and increase quality of life in patients with endometrial cancer and their relatives.

Description:

PRIMARY OBJECTIVES:

I. Molecular classification of tumor abnormalities through innovative upfront next-generation DNA sequencing.

II. Identify endometrial cancer (EC) patients with inherited EC, specifically Lynch syndrome (LS), using both tumor and normal (blood) DNA testing.

III. Develop a comprehensive approach to genetic risk assessment and management including improved cascade testing in at-risk relatives.

IV. Provide local access to genetic counseling for patients with harmful germline mutations.

V. Identify molecular signatures that may be associated with favorable response to specific treatments (including chemotherapeutic agents, non-surgical options, and novel clinical trials [in particular, patients with mismatch repair (MMR)-deficient or POLE-mutant tumors]).

VI. Determine if recurrence likelihood can be predicted from molecular signature.

VII. Identify EC patients with select molecular signatures for recruitment to long-term follow-up, cancer prevention, and treatment studies.

OUTLINE:

Patients with endometrial cancer undergo clinical testing for inherited cancer mutations using blood DNA and via next-generation sequencing of tumor samples. Patients testing positive for Lynch syndrome or other cancer susceptibilities will undergo genetic counseling and testing and counseling will be offered to their family members.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 1002
• Est. completion date: June 30, 2023
• Est. primary completion date: June 30, 2023
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• Adult women who had a hysterectomy or diagnostic biopsy proving endometrial adenocarcinoma (any stage) between 10/1/2017 and 4/30/2020, and received care at one of the participating hospitals

• Adult relatives of the EC patients found to have LS

Exclusion Criteria:

• Individuals must be able to speak and read English; non-English speaking individuals will be excluded

• Individuals must be able to consent for themselves; those who are unable to consent for themselves for any reason will be excluded

• Prisoners will be specifically excluded from participation in the study

• Women who have uterine sarcomas are excluded

• Pregnant women are not eligible for the study

Related Conditions & MeSH terms

• Colorectal Neoplasms, Hereditary Nonpolyposis
• Endometrial Adenocarcinoma
• Endometrial Carcinoma
• Endometrial Neoplasms
• Lynch Syndrome
• Relatives
• Syndrome

Intervention

Other:
• Genetic Counseling
Undergo genetic counseling
• Genetic Testing
Undergo genetic testing
• Laboratory Biomarker Analysis
Correlative studies

Procedure:
• Mutation Carrier Screening
Undergo tumor screening via next-generation sequencing

Locations

Country	Name	City	State
United States	Summa Akron City Hospital/Cooper Cancer Center	Akron	Ohio
United States	Aultman Health Foundation	Canton	Ohio
United States	TriHealth Cancer Institute-Westside	Cincinnati	Ohio
United States	University of Cincinnati	Cincinnati	Ohio
United States	MetroHealth Medical Center	Cleveland	Ohio
United States	University Hospitals Cleveland Medical Center	Cleveland	Ohio
United States	Ohio Health	Columbus	Ohio
United States	Ohio State University Comprehensive Cancer Center	Columbus	Ohio
United States	Mercy Health - St. Vincent Medical Center	Toledo	Ohio

Sponsors (1)

Lead Sponsor	Collaborator
Ohio State University Comprehensive Cancer Center

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Incidence of endometrial cancer patients with Lynch syndrome	Measured by molecular profiling of tumor deoxyribonucleic acid (DNA) via next-generation sequencing.	Up to 3 years
Primary	Incidence of tumors with microsatellite instability and/or somatic POLE mutations	Measured by molecular profiling of tumor DNA via next-generation sequencing.	Up to 3 years

External Links

•   The Jamesline