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Images will be posted weekly, and below each we will discuss briefly a medical / health topic related to the image. If you do not see the brief paragraph following the image, please check back in 7 days. Dr. Miller will post his medical / health information related to that specific image.

09/03/2024

What types of biomarkers can be tested in colorectal cancer patients?

Colorectal cancer biomarkers that give prognostic information, help guide treatment decisions, and allow monitoring for treatment response or recurrence after treatment 

  • Microsatellite stability (MSS) describes your tumor cells’ ability to do DNA mismatch repair. DNA mismatch repair is the correction of mistakes that occur in DNA when cells grow and divide.
  • Microsatellite instability (MSI-High) describes your tumor cells’ deficiency in DNA mismatch repair (also called dMMR). Your tumor cells are unable to correct some mistakes that occur in DNA when cells grow and divide.
  • KRAS, a member of the RAS family of genes, is involved with control of cell growth and cell survival. Wild-type (normal, non-mutant) KRAS tumors may be treated with EGFR inhibitors. There are ongoing clinical trials testing KRAS-specific therapeutic intervention for colorectal cancer with KRAS mutation, and KRAS mutant tumors may be treated with traditional chemotherapy and targeted therapies.  
  • NRAS, a member of the RAS family of genes, is involved in control of cell growth and cell survival. Tumors with no NRAS mutation (normal, wild-type) may be treated with EGFR inhibitors. NRAS mutant colorectal cancer may be treated with traditional chemotherapy and targeted therapies. Ongoing clinical trials are studying NRAS-specific targeted therapy.
  • BRAF is a gene involved in control of cell growth. Tumors with BRAF mutations may be treated with BRAF inhibitors, a targeted therapy.
  • Carcinoembryonic antigen (CEA) is a protein made by most but not all colorectal cancers. Measuring CEA before, during, and after cancer treatment can provide information about how well a treatment is working, whether your cancer is progressing, and whether you may have a cancer recurrence.
  • HER2 is a gene that encodes (gives instructions for making) a protein involved in cell growth and cell survival. HER2 gene amplification or protein overexpression can lead to uncontrolled cell growth and survival of abnormal cells that should die. Colorectal cancer that has HER2 amplification or overexpression can be treated with targeted therapy using HER2 inhibitor drugs.
  • Tumor mutational burden (TMB) is a measurement of how many mutations there are in your tumor’s genes (tumor DNA), rather than a test of a specific mutation. Patients with TMB-High may be candidates for immunotherapy, even patients who have the MSS biomarker which is not typically treated with immunotherapy.
  • NTRK fusion is a mutation in which one of the three NTRK genes is fused with a partner gene on another chromosome, creating TRK fusion proteins. It is rare in colorectal cancer, but patients with MSI-High, TMB-High, and wild-type KRAS, NRAS, and BRAF have higher rates of NTRK fusion. NTRK fusion positive patients may be treated with targeted therapy with TRK inhibitors.
  • PIK3CA is a gene involved in the control of cell growth, cell survival, and cell migration. PIK3CA inhibitors, which are treatments that target PIK3CA mutations, are already in use in breast cancer, and are being tested for colorectal cancer in ongoing clinical trials.
  • Tumor location / tumor sidedness. Colorectal tumors can be right-sided (also known as proximal), located in the cecum through the transverse colon, or left-sided (also known as distal) located in the splenic flexure through the rectum. Tumor location is associated with different biomarker mutations, different patient sex, different age groups, different hereditary colorectal cancer syndromes, and different patterns of metastasis.

08/21/24

The BRAF gene is a human gene that provides instructions for making a protein that helps regulate cell growth and division. The protein is called B-Raf, and it’s a member of the Raf kinase family. 

Mutations in the BRAF gene can cause the protein to be too active, which can lead to uncontrolled cell growth and cancer. These mutations are commonly found in melanoma, the most serious form of skin cancer, and in several other types of cancer, including: Colon cancer, Thyroid cancer, Ovarian cancer, Lung cancer, and Certain blood cancers. 

The most common mutation in the BRAF gene is the V600E mutation, which occurs in exon 15. In lung cancer, the V600E mutation is more common in current or former smokers.