In the past, treatment plans for non-small cell lung cancer were mostly based on factors like the tumor size, location(s) in the lungs, and stage. However, oncologists can now use information about genetic mutations in each patient to create a more personalized lung cancer treatment plan.

What Is a Genetic Mutation? 

DNA carries the genetic information determining their growth, development, and reproduction ability. A genetic mutation is a permanent change in the DNA of cells. Repairing the damage can be difficult or impossible when a mutation occurs within the DNA. The mutation then results in cells growing uncontrollably or living too long, which leads to the development of cancer in some people.

There are two main categories of genetic mutations. Somatic mutations are acquired, meaning they develop throughout a person's lifetime. These mutations are caused by various factors, such as tobacco smoke, air pollution, chemicals, radon gas, the sun’s ultraviolet radiation, or viruses. DNA can also change spontaneously or due to an unknown cause. The other category of gene mutation is called a germline mutation. This mutation is inherited, which means it was passed down from a parent. 

How Does Biomarker Testing Identify Genetic Mutations?

Most genetic mutations related to non-small cell lung cancer are somatic mutations.

Biomarker testing is used to determine if any genetic mutations are present. Understanding the specific gene mutations in a non-small cell lung cancer patient impacts the treatments selected.

Biomarkers, also known as biological markers, are substances such as genes, proteins, hormones, or other compounds found in cancer cells, surrounding tissues, and bodily fluids such as blood. These molecular markers offer valuable information about the characteristics of cancer. 

If you are diagnosed with non-small cell lung cancer, your oncologist may suggest genetic mutation testing.  

Lung Biopsy to Collect Tissue Sample for Biomarker Testing

Typically, patients undergo a biopsy to confirm the presence of lung cancer. The tumor cells removed during the biopsy can be used for biomarker testing. Sometimes, this tissue sample can be taken during surgery to remove the tumor. However, if surgery isn't an option, your oncologist may recommend other methods to get a tumor tissue sample. One standard method is a bronchoscopy, which involves using a flexible tube inserted through your nose or mouth and into your lungs to extract tissue. 

Once a sample is collected, one or more tests will be performed to identify the presence of any gene mutations.

Gene Mutations Associated with Non-Small Cell Lung Cancer

Biomarker testing is usually done on the tissue removed from a lung tumor biopsy. If surgery is performed before a biopsy, the tissue removed during the procedure will be used for testing. Several genes are known to be related to genetic mutations found in non-small cell lung cancer:

  • TP53 
  • KRAS
  • EGFR 
  • FGFR1 
  • ALK 
  • MET 
  • BRAF 

Read our blog: Lung Cancer Gene Mutations: What Are They and How Do They Affect Treatment?

Tests Used to Identify Genetic Mutations in Lung Cancer Cells

  • Sequencing isn’t as sensitive as other methods but is used as an early test that assesses the entire gene for mutations. Sequencing involves breaking DNA strands into smaller pieces to see if there are changes to any of the genes.
  • Allele-specific testing is a faster, less expensive, and more accurate method that can identify mutations in several genes, such as EGFR, MET, BRAF, HER2, and KRAS.
  • Next-generation sequencing (NGS) uses computers to identify more mutations than can be found in standard sequencing. The doctors will use blood or tissue samples. It searches for multiple biomarkers at the same time.
  • Fluorescence in-situ testing (FISH) is a method for identifying mutations in ALK, ROS1, RET, and other genes.
  • Immunohistochemistry (IHC) is another method for identifying mutations in ALK and ROS1. It is faster and less expensive than FISH.
  • Liquid biopsies use blood samples to measure tumor cells' DNA and can quickly identify EGFR mutations.

Lung Cancer Education Center

Want to learn more about lung cancer? Our lung cancer education center includes articles, videos, and patient stories. 

How Biomarker Test Results Impact Non-Small Cell Lung Cancer Treatment

Biomarkers are used to diagnose and treat non-small cell lung cancer, among other cancers. They show whether specific proteins and mutations are present in the tumor. It's important to understand that each patient's biomarker test results are different, making each patient’s treatment plan unique.

The biomarker test results allow your oncologist to identify the specific genetic changes driving the cancer's growth, if any are present.  This information helps direct your oncologist in selecting the most appropriate treatment, as drugs are now available to target many of these mutations.

These drugs, called targeted therapies, work by attaching to specific targets on cancer cells, causing them to self-destruct or stop growing. Some drugs enter the cells, preventing them from dividing and spreading. 

Read more about targeted therapy for lung cancer

Compared to other treatments, targeted gene therapy has fewer side effects. This is because targeted therapy is precise, targeting only the cancer cells while leaving healthy cells alone. 

Targeted therapies have improved the lives of non-small cell lung cancer patients during treatment and extended their lives after treatment is complete.

What If No Genetic Mutations Are Found?

Many non-small cell lung cancer treatment options are available, even if no genetic mutations are found during biomarker testing. It simply won’t include targeted therapy. Other treatments for non-small cell lung cancer include: 

  • Surgery
  • Radiation therapy
  • Chemotherapy
  • Immunotherapy

Your treatment team, led by the medical oncologist, will work with the other physicians on your team to determine the best combination of lung cancer treatments and the timing for each.

What to Do After a Non-Small Cell Lung Cancer Diagnosis?

If you were recently diagnosed with non-small cell lung cancer, it’s likely your oncologist will discuss biomarker tests to determine if there are specific treatments that would work best for you. 

Find a Lung Cancer Specialist

The recommended plan will depend on whether specific proteins or mutations are detected along with the cancer stage, whether this is your first treatment, or if the cancer has recurred.

Rocky Mountain Cancer Centers offers the latest lung cancer treatments at various locations across Colorado’s Front Range. You can request a consultation or a second opinion appointment in an area that’s convenient for you. 


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