Trial Information

Ohio Colorectal Cancer Prevention Initiative: Universal Screening for Lynch Syndrome

Lynch Syndrome:

Lynch syndrome (LS), previously known as "hereditary non-polyposis colorectal cancer", is a
hereditary cancer syndrome that causes the majority of hereditary CRC and approximately 3%
of all CRC. LS significantly increases the risk for an individual to develop CRC during
their lifetime. Individuals with LS also have an increased risk to develop extracolonic
cancers, including endometrial, gastric, ovarian, upper urinary tract, small bowel, biliary
tract, CNS, and certain types of skin cancer. Tumor studies, including microsatellite
instability (MSI) testing and immunohistochemical (IHC) analysis, provide information
regarding characteristic features of LS-associated tumors and can help target genetic
testing. Given the hereditary nature of this syndrome, screening all patients who are newly
diagnosed with CRC for LS can identify additional individuals who are at high-risk of
developing cancer.

Study Aims:

By developing a CRC research infrastructure within the state of Ohio, the OCCPI will achieve
the following specific aims:

- Establish and implement a statewide universal screening protocol for LS.

- Elucidate the prevalence of hereditary CRC in Ohio.

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

- 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.

With the successful implementation of the OCCPI, knowledge will be gained that will
facilitate the adoption of a universal screening protocol for LS in Ohio and the creation of
a statewide CRC biorepository to be used for additional studies on cancer risks, prevention,
screening, treatment and survivorship.

Study Procedures for CRC and EC participants:

- You will be asked to donate 2-3 tablespoons of blood.

- A small piece of your colorectal or endometrial tumor will be obtained from the
hospital where you had your surgery.

- You will be asked to contribute your leftover samples (tumor and blood) to the OCCPI
biorepository (sample bank) for help with future research. Additionally, CRC
participants will be asked to donate a saliva sample to the OCCPI biorepository. The
samples will be kept securely in a lab at OSU. Before your samples can be used for
research, the people doing the research must get specific approval from the OCCPI
Steering Committee and possibly the Institutional Review Board (IRB) of OSU. The IRB is
responsible for protecting the participants involved in research studies and making
sure all research is done in a safe and ethical manner.

- You will be asked to complete a questionnaire which will ask about your age, medical
history, family history, lifestyle factors and environmental exposures. It should take
about one hour to complete the questionnaire and you can complete it from home.

- We will test your tumor for features of LS (MSI, IHC, methylation).

- If your tumor shows features of LS or if you were diagnosed under age 50 or have a
family history of CRC or endometrial cancer, we will test your blood for the genes that
cause LS, as well as other genes that can cause hereditary cancer.

- If you are found to have LS or another type of hereditary cancer, you will be offered
free genetic counseling.

- If you are found to have LS, your at-risk relatives will be offered free genetic
counseling and genetic testing.

Study Procedures for first-degree relatives (FDR) of the CRC participants:

The FDRs of all of the CRC study participants will be given the opportunity to contribute to
the biorepository for future research.

- Family Member Consent for Contact forms will be provided to the CRC participant at the
time of their enrollment for them to distribute to all of their FDRs (parents, siblings
and adult children ≥ 25 years). The FDRs will mail the signed form to OSU.

- After obtaining permission to contact the FDRs, OSU will mail them the biorepository
consent form and saliva kit to return to the OCCPI biorepository.

- The FDRs of the CRC study participants will also be invited to complete the baseline
questionnaire.

Length of study:

- The LS tumor screening portion of the OCCPI will take 1-4 months.

- If applicable, genetic testing results should be ready in an additional 3-6 months.

- Overall, your participation in the LS screening portion of the OCCPI is expected to
take about 1 year. Most of this time will be spent waiting for results. Your active
involvement will take about 15 minutes on the day that you provide consent and about 60
minutes when you complete the questionnaire from home.