Clinical trial NCT03460483: Universal Endometrial Cancer DNA Sequencing for Detection of Lynch Syndrome and Personalized Care
Official title: Ohio Prevention and Treatment of Endometrial Cancer (OPTEC) Initiative: Universal Screening for DNA Mismatch Repair Deficiency and Personalized Cancer Treatment
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: NA
Conditions: Endometrial Adenocarcinoma
Endometrial Carcinoma
Lynch Syndrome
Relatives
Lead sponsor: Ohio State University Comprehensive Cancer Center
Sponsor class: OTHER
First posted: 2018-03-09
Enrollment: 1001
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: SCREENING

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.

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

Primary outcomes:
measure: Incidence of endometrial cancer patients with Lynch syndrome
timeFrame: Up to 3 years
measure: Incidence of tumors with microsatellite instability and/or somatic POLE mutations
timeFrame: Up to 3 years
Secondary outcomes:
Other outcomes:
Locations:
city: Akron
country: United States
facility: Summa Akron City Hospital/Cooper Cancer Center
state: Ohio
city: Canton
country: United States
facility: Aultman Health Foundation
state: Ohio
city: Cincinnati
country: United States
facility: University of Cincinnati
state: Ohio
city: Cincinnati
country: United States
facility: TriHealth Cancer Institute-Westside
state: Ohio
city: Cleveland
country: United States
facility: University Hospitals Cleveland Medical Center
state: Ohio
city: Cleveland
country: United States
facility: MetroHealth Medical Center
state: Ohio
city: Columbus
country: United States
facility: Ohio State University Comprehensive Cancer Center
state: Ohio
city: Columbus
country: United States
facility: Ohio Health
state: Ohio
city: Toledo
country: United States
facility: Mercy Health - St. Vincent Medical Center
state: Ohio
Study officials:
affiliation: Ohio State University Comprehensive Cancer Center
name: Paul Goodfellow
role: PRINCIPAL_INVESTIGATOR
References: