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

NCT03460483 | Completed DMC

• 2 other identifiers: OSU-17149NCI-2018-00218
• Study Type: interventional
• Target: 1,001
• Locations: 1 country
• Sites: 9

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.

Conditions

Endometrial Adenocarcinoma; Endometrial Carcinoma; Lynch Syndrome; Relatives

Outcome Measures

Primary Outcomes (2)

• 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

• 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

Study Arms (1)

Comprehensive LS genetic testing

EXPERIMENTAL

Testing for inherited forms of cancer and tumor sequencing

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

Interventions

Genetic Counseling OTHER

Undergo genetic counseling

Comprehensive LS genetic testing

Genetic Testing OTHER

Undergo genetic testing

Also known as: genetic analysis, Genetic Examination, Genetic Test

Comprehensive LS genetic testing

Laboratory Biomarker Analysis OTHER

Correlative studies

Comprehensive LS genetic testing

Mutation Carrier Screening PROCEDURE

Undergo tumor screening via next-generation sequencing

Comprehensive LS genetic testing

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Ohio State University Comprehensive Cancer Center: lead

Study Sites (9)

Summa Akron City Hospital/Cooper Cancer Center

Akron, Ohio, 44304, United States

Location

Aultman Health Foundation

Canton, Ohio, 44710, United States

Location

University of Cincinnati

Cincinnati, Ohio, 45219, United States

Location

TriHealth Cancer Institute-Westside

Cincinnati, Ohio, 45245, United States

Location

University Hospitals Cleveland Medical Center

Cleveland, Ohio, 44106, United States

Location

MetroHealth Medical Center

Cleveland, Ohio, 44109, United States

Location

Ohio State University Comprehensive Cancer Center

Columbus, Ohio, 43210, United States

Location

Ohio Health

Columbus, Ohio, 43214, United States

Location

Mercy Health - St. Vincent Medical Center

Toledo, Ohio, 43608, United States

Location

Related Links

• The Jamesline

MeSH Terms

Conditions

Endometrial Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis

Interventions

Genetic Counseling; Genetic Testing

Condition Hierarchy (Ancestors)

Uterine Neoplasms; Genital Neoplasms, Female; Urogenital Neoplasms; Neoplasms by Site; Neoplasms; Uterine Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Colorectal Neoplasms; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplastic Syndromes, Hereditary; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Genetic Services; Health Services; Health Care Facilities Workforce and Services; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Diagnostic Services; Preventive Health Services

Study Officials

• Paul Goodfellow

  Ohio State University Comprehensive Cancer Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: March 1, 2018
• First Posted: March 9, 2018
• Study Start: March 30, 2018
• Primary Completion: June 15, 2025
• Study Completion: June 15, 2025
• Last Updated: October 3, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (9)