Colorectal Carcinoma, Lynch Syndrome
Conditions
Brief summary
This study collects blood and stool samples from patients with suspected or diagnosed Lynch syndrome to evaluate a deoxyribonucleic acid (DNA) screening technique for the detection of colorectal cancer in Lynch syndrome patients.
Detailed description
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.
Interventions
PROCEDUREBiospecimen Collection
Undergo collection of blood and stool samples
OTHERElectronic Health Record Review
Medical records reviewed
Sponsors
Mayo Clinic
Exact Sciences Corporation
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* 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
Exclusion criteria
* 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 * Presence of ileostomy * Enteral feeds or total parenteral nutrition (TPN) * Diagnosis of inflammatory bowel disease
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Specificity of mt-sDNA 2.0 test to detect colorectal dysplasia | Up to 4 years | Results of the mt-sDNA 2.0 test will be correlated with pathology findings of patients undergoing colonoscopy to determine specificity of the mt-sDNA 2.0 test |
| Sensitivity of multitarget stool deoxyribonucleic acid (mt-sDNA) 2.0 test to detect colorectal neoplasia | Up to 4 years | Results of the mt-sDNA 2.0 test will be correlated with pathology findings of patients undergoing colonoscopy to determine sensitivity of the mt-sDNA 2.0 test |
Countries
United States
Contacts
CONTACTRosalie Himle
CONTACTClinical Trials Referral Office
PRINCIPAL_INVESTIGATORNiloy Jewel Samadder, M.D.
Mayo Clinic
Outcome results
None listed