PRIMARY OBJECTIVE:
I. To determine the sensitivity and specificity of the multitarget stool DNA (mt-sDNA) 2.0 test, for colorectal neoplasia in patients with Lynch syndrome.
SECONDARY OBJECTIVE:
I. Develop a biorepository of samples (stool and blood) from patients with Lynch syndrome and early onset colorectal cancer.
OUTLINE:
Patients undergo collection of blood and stool samples no more than 90 days prior to or between 7-90 days after standard of care colonoscopy or flexible sigmoidoscopy. Patients' medical records are also reviewed.
Age
18–any
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible if
Patients at least 18 years of age
Individuals diagnosed with Lynch syndrome (mutation in MLH1, MSH2, MSH6, PMS2, EPCAM) or colorectal cancer (CRC) with suspected Lynch syndrome or individuals diagnosed with early onset CRC (\<55 years old)
Colonoscopy/flexible sigmoidoscopy (flex sig) scheduled +/- 90 days from sample collection
Patient has agreed to participate and has signed the study consent form
You may not be if
Patient has known cancer (stage I-IV) within 5 years prior to current sample collection (not including basal cell or squamous cell skin cancers; if patient has not been seen or if information is not available, the patient is eligible)
Patient has received chemotherapy class drugs for the treatment of cancer in the 5 years prior to current sample collection
Patient has had any abdominal radiation therapy prior to current sample collection
Patient had therapy to the target (non-hyperplastic) lesion with intent to completely remove or debulk the lesion prior to sample collection \[examples include snare polypectomy, endoscopic mucosal resection (EMR), endoscopic submucosal dissection (ESD), surgical resection, trans anal excision\]
Patient has prior diagnosis of non-lynch hereditary colon cancer syndrome \[familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS), PTEN, POL\]
ADDITIONAL STOOL EXCLUSIONS:
Bowel prep \<7 days prior to stool collection
Oral or rectal contrast given within 7 days prior to stool collection
