Clinical Trials

The James Cancer Center Columbus, OH

open for enrollment

Universal Screening for Lynch Syndrome in Patients with Newly Diagnosed Colorectal Cancer or Endometrial Cancer and Their Relatives

Protocol: OSU-12170

Full Title

The Ohio Colorectal Cancer Prevention Initiative: Universal Screening for Lynch Syndrome

Purpose

This clinical trial studies universal screening for lynch syndrome in patients with newly diagnosed colorectal cancer or endometrial cancer and their relatives. Lynch syndrome is a hereditary cancer syndrome caused by a non-working gene that significantly increases the risk for an individual to develop colorectal cancer, endometrial cancer, and other cancers during one’s lifetime. A universal screening protocol for lynch syndrome may help reduce morbidity (cancer or its symptoms) and mortality (death) from cancer in the patients themselves and their at-risk relatives through early surveillance and prevention options.

Study Objective

PRIMARY OBJECTIVES:

I. Establish and implement a statewide universal screening protocol for lynch syndrome (LS).

II. Elucidate the prevalence of hereditary colorectal cancer (CRC) in Ohio.

III. Provide screening recommendations for high-risk individuals with CRC and their families, as well as local access to genetic counseling.

IV. Create a CRC biorepository for future research on the etiology of CRC from the leftover samples of the CRC patients, as well as samples from their relatives.

V. The Ohio State University will be the only site that will also include all newly diagnosed endometrial cancer patients in the Universal Screening for Lynch Syndrome (USLS) arm of the Ohio Colorectal Cancer Prevention Initiative (OCCPI) and the biorepository.

OUTLINE:

Participants with CRC or endometrial cancer (EC) undergo tumor screening via microsatellite instability (MSI) testing, immunohistochemical (IHC) studies, and methylation testing of their tumor samples.

CRC participants diagnosed < 50 years with normal tumor studies, CRC participants diagnosed >= 50 years with normal tumor studies and a first-degree relative (FDR) with CRC or EC, and CRC and EC participants with abnormal tumor studies not explained by mutL homolog 1 (MLH1) promoter methylation undergo germline genetic testing of several genes that increase the risk for hereditary cancers. Patients with abnormal tumor studies not explained by MLH1 promoter methylation or a germline mutation also undergo genetic testing using tumor deoxyribonucleic acid (DNA) for somatic mutations. Participants with positive genetic test results receive their results through genetic counseling.

FDRs are contacted and offered the opportunity to contribute to the biorepository, for which they will receive a biorepository consent form, relative teleform, medical records release form, and a saliva kit to return to the OCCPI biorepository in Human Genetics Sample Bank. FDR of participants with LS may receive free genetic testing and genetic counseling.

Are you eligible?

Inclusion Criteria:

Newly diagnosed with a primary invasive colorectal adenocarcinoma (all stages) and have a resection at any hospital in Ohio between 1/1/2013 and 12/31/2015

For individuals who have neoadjuvant treatment and show a complete response at resection, the tumor screening will be attempted on their original biopsy (even if it occurred in 2012) as long as their resection occurred between 1/1/2013 and 12/31/2015

Many individuals with stage IV CRC will not have a resection; therefore, the tumor screening will be attempted on their original biopsy as long as their primary diagnosis occurred between 1/1/2013 and 12/31/2015; if only metastatic CRC is available on a biopsy, tumor screening will be attempted on the metastatic tissue

Newly diagnosed with a primary invasive endometrial cancer (any histology except sarcoma) and have a resection between 1/1/2013 and 12/31/2015 exclusively at Ohio State University (OSU)

For individuals who have neoadjuvant treatment and show a complete response at resection, the tumor screening will be attempted on their original biopsy (even if it occurred in 2012) as long as their resection occurred between 1/1/2013 and 12/31/2015

All at-risk relatives of the participants found to have LS

First-degree relatives (parents, siblings and adult children >= 25 years of age) of the CRC participants who do not have LS

Individuals who are cognitively impaired are eligible for the study and consent for participation must be given by a legal authorized representative or parent; pregnant women are eligible for the study

Exclusion Criteria:

Prisoners and individuals who are under the age of 18 will be specifically excluded from participation in the study; individuals must have a primary colorectal or endometrial cancer, not a recurrence of a previous colorectal or endometrial cancer

Rectal Cancer Colon Cancer Gastrointestinal Cancers