• Test Code:
    1692
  • Department:
  • Test Synonyms:
    APCMLH1MSH2MSH6PMS2EPCAMMUTYHGREM1POLD1
  • CPT Code(s):
    81201812038129281294812958129781298813008131781319814038140681479x2
Background:

The Inherited Colon Cancer Panel is a multi-gene test that analyses genes associated with increased risk for colorectal cancer (CRC), the third most commonly diagnosed cancer in both men and women. In the United States, about 140,000 new cases of colorectal cancer are diagnosed each year. About 5 - 10% of all colorectal cancers are caused by a heritable mutation.

Understanding the molecular etiology of such cancer incidence can help guide treatment and proper surveillance.  Our next-generation sequencing test is designed to detect mutations in the coding region of 9 genes associated with inherited colon cancer, or increasing the risk for cancer onset.  Our microarray test is designed to identify single exon deletions and duplications in the same 9 inherited colon cancer-associated genes.  Combining deletion/duplication data analyzed by microarray with next generation sequencing data will allow KDL to improve diagnostic yield and deliver more comprehensive results.

The results from genetic tests can facilitate assessment of levels of risk for patients and lead to more efficient and appropriate medical management.  It is recommended that this testing be accompanied by a complete family history and genetic counseling.

Reasons for Referral:

  • Confirmation of a clinical diagnosis of an inherited colon cancer.
  • Testing for individuals with a positive family history for inherited colon cancer (targeted testing is available if familial mutation is known).

Methodology:

This test has two components:

Component 1: Next generation sequencing will analyze the exons or coding regions of 9 inherited colon cancer-associated genes using Illumina NextSeq 500 technology and preparing samples using hybridization probes to enrich exonic regions.  Any gaps in coverage in clinically validated genes are completed with traditional Sanger sequencing such that 100% of the coding region of the above genes are covered at 10x coverage or more.  Promoter, intronic, etc. regions are not assessed here but may contain variants that impact gene function.

Component 2: Deletion/Duplication Analysis – A customized CytoSure “exon-centric” array (Oxford Gene Technology) will be used to detect deletions and duplications. The targeted array has enhanced probes targeted to the exonic regions of the 9 inherited colon cancer-associated genes medically relevant genes. The arrays will be run using Agilent SureScan technology. This array is an ideal complement to the next generation sequencing approach to provide a comprehensive mutation spectrum analysis for inherited cancer.

The 9 inherited colon cancer-associated genes are listed below:
APC, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1

Specimen Requirements:

Blood: EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 2-3mL
  • Infant: 1-2mL

 A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

3 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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