Cancer Gene Mutation, Endometrial Cancer, Lynch Syndrome, Somatic Mutation
Conditions
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.
Interventions
DIAGNOSTIC_TESTMismatch 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.
Sponsors
RWJ Barnabas Health at Jersey City Medical Center
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of patients who have a somatic mutation at the same time as a germline mutation | 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. |
Countries
United States
Contacts
Primary ContactAriel Polonsky, MD
Backup ContactNoah Goldman, MD
Outcome results
None listed