Colorectal Cancer Mutation Testing

 
Colorectal cancer results from uncontrolled cell growth in the large intestine or appendix. Management of advancing and metastatic color rectal cancer typically includes medications or agents that interfere with the biological activity of the epidermal growth factor receptor (EGFR). Activating mutations in the KRAS gene occur in 30-40% of sporadic metastatic colorectal carcinoma (CRC); and BRAF mutations occur in approximately 5-10% of sporadic CRC. Both genes are located within the same protein kinase pathway. EGFR also plays an important role in the progression of CRC, therefore many drugs approved for use in CRC treatment target EGFR activation.
 
Both BRAF and KRAS genes are involved in a signaling pathway involved in cell cycling. Mutations in either gene lead to constitutive activation of this pathway, which may cause cancer progression and failure to respond to anti-EGFR therapy (cetuximab or panitumumab). Molecular testing for both BRAF and KRAS mutations is recommended to be conducted in all CRC patients immediately after diagnosis to ensure the best treatment strategies and to determine if patients are likely to respond to anti-EGFR therapies.
 
Genetics Center molecular lab is also able to perform this testing on other types of tumor tissue, please contact the lab directly for further details. This testing is easily performed on tumor tissue and is not currently available for peripheral blood.
 
REASONS FOR REFERRAL:

  • Molecular testing for both BRAF and KRAS mutations is recommended for all colorectal cancer patients to ensure the best treatment strategies, and to determine if patients are likely to respond to ant-EGFR therapies.

 
TURN AROUND TIME:

  • 5 days

 
GENETICS CENTER COLORECTAL CANCER MUTATION TESTING METHODS:

  • BRAF gene sequencing of exons 11 and 15
  • KRAS gene sequencing of exons 1 and 2

 
SPECIMEN REQUIREMENTS AND SHIPPING/HANDLING:
 
Type: Tumor Tissue

  • Container: Tumor Slides with corresponding H&E slide marked for tumor area of interest.
  • Unacceptable specimens:
    • Unlabeled/improperly labeled specimens
    • Specimens that do not have an accompanying corresponding H&E slide.

 

Send to:

Genetics Center
211 S. Main Street
Suite AA
Orange, CA 92868
Tel: (714) 288-3500

 
REQUIRED FORMS:

 
CPT CODES:

  • Colorectal Cancer Mutation Screening
    • CPT’s: 81404, G0452

 

  • BRAF Mutation Analysis
    • CPT’s: 81404, G0452

 

  • KRAS Mutation Analysis
    • CPT’s: 81404, G0452