Endometrial Cancer Clinical Trial
Official title:
Correlation Between Somatic Mismatch Repair Instability and Germline Mismatch Repair Instability, in Low Socioeconomic Background Population Diagnosed With Endometrial Endometrioid Adenocarcinoma
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.
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