Collecting Blood and Stool Samples to Detect Colorectal Cancer or Advanced Neoplasia in Lynch Syndrome Patients

Mayo Clinic

Status

Enrolling

Conditions

Colorectal Carcinoma

Lynch Syndrome

Treatments

Other: Electronic Health Record Review

Procedure: Biospecimen Collection

Study type

Observational

Funder types

Other

Industry

Identifiers

NCT05410977

CORAL

21-010010 (Other Identifier)

NCI-2022-02032 (Registry Identifier)

Details and patient eligibility

About

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.

Full 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 (< 50 years old) 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.

Enrollment

750 estimated patients

Sex

All

Ages

18+ years old

Volunteers

No Healthy Volunteers

Inclusion criteria

Patients at least 18 years of age
Individuals diagnosed with Lynch syndrome (mutation in MLH1, MSH2, MSH6, PMS2, EPCAM) or suspected Lynch syndrome or individuals diagnosed with early onset colorectal cancer (CRC) (< 50 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) 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 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
Removal of more than 50% of colon or presence of ileostomy
Enteral feeds or total parenteral nutrition (TPN)
Diagnosis of inflammatory bowel disease