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

The Ohio State University

Status: Active, not recruiting

Conditions: Endometrial Carcinoma; Endometrial Adenocarcinoma; Lynch Syndrome; Relatives

Treatments: Other: Genetic Counseling; Other: Genetic Testing; Other: Laboratory Biomarker Analysis; Procedure: Mutation Carrier Screening

Study type: Interventional

Funder types: Other; NIH

Identifiers

NCT03460483

OSU-17149

NCI-2018-00218 (Registry Identifier)

Details and patient eligibility

About

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.

Full 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.

Enrollment: 1,001 patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

Primary purpose: Screening

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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1,001 participants in 1 patient group

Comprehensive LS genetic testing

Experimental group

Description:

Testing for inherited forms of cancer and tumor sequencing

Treatment:

Procedure: Mutation Carrier Screening

Other: Laboratory Biomarker Analysis

Other: Genetic Testing

Other: Genetic Counseling