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Lynch Syndrome Can be Diagnosed Just From Somatic Mismatch Repair Mutation

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04516083
Recruitment Status : Recruiting
First Posted : August 17, 2020
Last Update Posted : August 18, 2020
Information provided by (Responsible Party):
RWJ Barnabas Health at Jersey City Medical Center

Brief Summary:

The objective of the study is the provide proof of high correlation between somatic and germline mismatch repair instability. This correlation is specifically researched in an area where patients have less access to cancer education and genetic testing for various reasons such as lack of insurance and general accessibility.

The study concentrates on early diagnosis of Lynch syndrome. Lynch syndrome is usually diagnosed from a blood test resulting in a mutation of one of the mismatch repair genes. Those are MLH1, MSH2, MSH 6, PMS2. A mutation in one of these genes creates a mismatch repair instability,hence higher incidence of cancers in specific organ groups. Amongst these organs are the Uterus, Ovaries, Upper genitourinary system, Pancreas and GI system.

The most common endometrial carcinoma which is found in Lynch syndrome is of endometrioid histology. Most patients with known germline mismatch repair instability, have the same somatic mutation. Our study is looking into correlating somatic mutation to germline mutation.

By doing so, patients diagnosed with somatic mismatch repair instability will be also diagnosed with lynch syndrome without germline genetic testing.

Screening programs will be utilized earlier and preventive procedures offered.

Due to less access to educational programs, genetic counseling and testing in underserved areas, patients are sometimes lost to follow up. Our study seeks to prove high correlation between somatic and germline mutations and by doing so, patient will be diagnosed with Lynch syndrome straight after endometrial cancer staging. As a result, increased compliance will be expected and patients will be offered the recommended preventative surgeries and screening protocols.

Condition or disease Intervention/treatment
Cancer Gene Mutation Lynch Syndrome Endometrial Cancer Somatic Mutation Diagnostic Test: Mismatch repair instability somatic and germline testing

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 2 Years
Official Title: Correlation Between Somatic Mismatch Repair Instability and Germline Mismatch Repair Instability, in Low Socioeconomic Background Population Diagnosed With Endometrial Endometrioid Adenocarcinoma
Actual Study Start Date : December 21, 2019
Estimated Primary Completion Date : December 30, 2020
Estimated Study Completion Date : June 30, 2021

Resource links provided by the National Library of Medicine

Intervention Details:
  • Diagnostic Test: Mismatch repair instability somatic and germline testing
    Each Endometrial Endometrioid adenocarcinoma is routinely stained for MMR mutation to seek for tumor genetic instability. If stains positive, the patient is called in for genetic blood testing to look for the same mutation in the germline.

Primary Outcome Measures :
  1. Number of patients who have a somatic mutation at the same time as a germline mutation [ Time Frame: Through study completion, an average of 18 months ]
    1. Resected tissue during endometrial staging will be immunohistochemically stained for MMR mutation.
    2. Patient blood test will be checked for MMR gene mutation
    3. Linear regression curve will be constructed to evaluate the correlation between somatic and germline mutation.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   Female
Gender Based Eligibility:   Yes
Gender Eligibility Description:   Female as this is endometrial carcinoma
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

The population includes female patients of all ages and races who are from a low socioeconomic background defined by the american psychological association.

These females usually reside in underserved area. All the patients are diagnosed with endometrial endometrioid adenocarcinoma via tissue biopsy.


Inclusion Criteria:

Underserved areas. Diagnosis of endometrial endometrioid carcinoma. Low socioeconomic status. Positive mismatch repair staining. All races. All ages. All cancer grades. All cancer stages .

Exclusion Criteria:

Diagnosis of type 2 endometrial carcinoma. Cancer diagnosis other than Endometrial. No mismatch repair genes mutation. High socioeconomic status.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04516083

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Contact: Ariel Polonsky, MD 5512276993
Contact: Noah Goldman, MD

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United States, New Jersey
Jersey city medical center Recruiting
Jersey City, New Jersey, United States, 07302
Contact: Ariel Polonsky, MD    551-227-6993   
Sponsors and Collaborators
RWJ Barnabas Health at Jersey City Medical Center
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Responsible Party: RWJ Barnabas Health at Jersey City Medical Center Identifier: NCT04516083    
Other Study ID Numbers: 1272883
First Posted: August 17, 2020    Key Record Dates
Last Update Posted: August 18, 2020
Last Verified: August 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Endometrial Neoplasms
Colorectal Neoplasms, Hereditary Nonpolyposis
Pathologic Processes
Uterine Neoplasms
Genital Neoplasms, Female
Urogenital Neoplasms
Neoplasms by Site
Uterine 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
DNA Repair-Deficiency Disorders
Metabolic Diseases