Test Catalog

Hereditary Colon Cancer Syndromes

Comprehensive Testing

Updated: October 2013
Published: May 2013

Next Generation Sequencing Panel

Mayo Medical Laboratories is pleased to announce the availability of our:

This panel uses next generation sequencing (NGS), array comparative genomic hybridization (aCGH), and other technologies to evaluate for germline mutations in 17 genes known to be associated with an increased risk for colon cancer development.

Problems playing the video? View it on Mayo Clinic's YouTube Channel.

The Hereditary Colon Cancer Multi-Gene Panel was developed in collaboration with the Mayo Clinic Center for Individualized Medicine, a team that integrates genomic, molecular and clinical science into personalized care for each Mayo patient.

Genes Evaluated with this Panel :

Gene Known Association
MLH1 Lynch syndrome
MSH2 Lynch syndrome
MSH6 Lynch syndrome
PMS2 Lynch syndrome
EPCAM Lynch syndrome
APC Familial Adenomatous Polyposis
MYH / MutYH MYH-associated Polyposis
SCG5 / GREM1 Hereditary Mixed Polyposis syndrome
STK11 Peutz-Jeghers syndrome
SMAD4 Juvenile Polyposis syndrome
BMPR1A Juvenile Polyposis syndrome
PTEN PTEN Hamartoma Tumor syndrome (Cowden syndrome)
CDH1 Hereditary Diffuse Gastric Cancer
AXIN2 Oligodontia-Colorectal Cancer syndrome
TP53 Li-Fraumeni syndrome
CHEK2* Low-risk gene
MLH3* Low-risk gene


*CHEK2 and MLH3, are not associated with a known hereditary cancer syndrome defined by a distinct spectrum of tumors. However, literature suggests that mutations in these genes may confer an increased risk for colon cancer and therefore are predicted to contribute to cancer risk in patients and families.


Tell Us What You Think