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Lynch Syndrome - Comprehensive Tumor Evaluation

CPT Call client services.
Synonyms HNPCC, Familial colorectal cancer; Hereditary colorectal cancer, MMR, Mismatch Repair

Test Details

Cancer Type

Colorectal cancer (CRC), Endometrial, Lynch syndrome

Technology Used

IHC, Molecular

Turnaround Time

5-7 days


Lynch syndrome (LS), an autosomal dominant familial cancer syndrome, is caused by inherited mutations in five genes (MLH1, MSH2, MSH6, PMS2, and EPCAM) that disrupt the mismatch repair (MMR) pathway. This disruption causes microsatellite instability (MSI) that may lead to oncogenesis. Lynch syndrome accounts for about 3% of all colorectal cancer (CRC) cases and is associated with increased risk of gastric, brain, upper urinary tract, and endometrial cancer in women.




Giardiello, FM et al., Guidelines on genetic evaluation and management of Lynch syndrome: A consensus statement by the U.S. Multi-Society Task Force on Colorectal Cancer. Gastrointestinal Endoscopy 2014; 80:197-219. Kohlmann, W et al., Lynch syndrome. GeneReviews 2014: Available online. Accessed 1/14/2015. Kempers MJ et al., Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol 2011; 12:49-55. Hampel H et al., Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer. J Clin Oncol 2008; 26:5783-8. The NCCN® Clinical Practice Guidelines in Oncology €“ Genetic/Familial High-Risk Assessment: Colorectal (Version 2.2014). ©National Comprehensive Cancer Network, Inc. 2015. NCCN® and NCCN Guidelines® are trademarks owned by the National Comprehensive Cancer Network, Inc.

Specimen Requirements

Information on collection, storage, and volume


Formalin-fixed paraffin-embedded tissue block and either 7ml whole blood or paraffin-embedded normal tissue (for MSI control)


Tumor area ‰¥4 mm2 and ‰¥50% tumor preferred


Paraffin block and lavendar top (EDTA) tube

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

No evidence of tumor or normal tissue; hemolyzed blood; insufficient quantity for analysis