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

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

Sponsors

Lead Sponsor: Ohio State University Comprehensive Cancer Center

Collaborator: National Cancer Institute (NCI)

Source Ohio State University Comprehensive Cancer Center
Brief 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.

Detailed 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.

Overall Status Suspended
Start Date March 30, 2018
Completion Date March 1, 2021
Primary Completion Date March 1, 2021
Phase N/A
Study Type Interventional
Primary Outcome
Measure Time Frame
Incidence of endometrial cancer patients with Lynch syndrome Up to 3 years
Incidence of tumors with microsatellite instability and/or somatic POLE mutations Up to 3 years
Enrollment 700
Condition
Intervention

Intervention Type: Other

Intervention Name: Genetic Counseling

Description: Undergo genetic counseling

Arm Group Label: Comprehensive LS genetic testing

Intervention Type: Other

Intervention Name: Genetic Testing

Description: Undergo genetic testing

Arm Group Label: Comprehensive LS genetic testing

Intervention Type: Other

Intervention Name: Laboratory Biomarker Analysis

Description: Correlative studies

Arm Group Label: Comprehensive LS genetic testing

Intervention Type: Procedure

Intervention Name: Mutation Carrier Screening

Description: Undergo tumor screening via next-generation sequencing

Arm Group Label: Comprehensive LS genetic testing

Eligibility

Criteria:

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

Gender: All

Minimum Age: 18 Years

Maximum Age: N/A

Healthy Volunteers: Accepts Healthy Volunteers

Overall Official
Last Name Role Affiliation
Paul Goodfellow Principal Investigator Ohio State University Comprehensive Cancer Center
Location
Facility:
Summa Akron City Hospital/Cooper Cancer Center | Akron, Ohio, 44304, United States
Aultman Health Foundation | Canton, Ohio, 44710, United States
University of Cincinnati | Cincinnati, Ohio, 45219, United States
TriHealth Cancer Institute-Westside | Cincinnati, Ohio, 45245, United States
University Hospitals Cleveland Medical Center | Cleveland, Ohio, 44106, United States
MetroHealth Medical Center | Cleveland, Ohio, 44109, United States
Ohio State University Comprehensive Cancer Center | Columbus, Ohio, 43210, United States
Ohio Health | Columbus, Ohio, 43214, United States
Mercy Health - St. Vincent Medical Center | Toledo, Ohio, 43608, United States
Location Countries

United States

Verification Date

April 2020

Responsible Party

Type: Principal Investigator

Investigator Affiliation: Ohio State University Comprehensive Cancer Center

Investigator Full Name: Paul Goodfellow

Investigator Title: Principal Investigator

Has Expanded Access No
Condition Browse
Number Of Arms 1
Arm Group

Label: Comprehensive LS genetic testing

Type: Experimental

Description: Testing for inherited forms of cancer and tumor sequencing

Acronym OPTEC
Patient Data No
Study Design Info

Allocation: N/A

Intervention Model: Single Group Assignment

Primary Purpose: Screening

Masking: None (Open Label)

Source: ClinicalTrials.gov