Several genes within the body can mutate and lead to non-small cell lung cancer (NSCLC). The genes that these mutations can occur with include epidermal growth factor receptor (EGFR), TP53, and KRAS.
There are two types of mutations that can affect people’s genes: somatic and germline.
Somatic mutations occur due to external factors, such as exposure to chemicals, toxins, or other agents. By contrast, germline mutations are hereditary.
This article explores the gene mutations related to NSCLC, whom they affect, what the risk factors are, and more.
Genes provide the genetic makeup of cells. They determine every aspect of how each cell functions, including when to reproduce and when to die off.
When genes mutate, they
When either of these mutations occurs, cancer can develop.
According to a
- anaplastic lymphoma kinase (ALK)
EGFR is a protein present on the outside of the cell that helps the cell divide and grow. According to research, up to 23% of all NSCLC cases involve the EGFR gene mutation.
TP53 is a gene responsible for helping suppress damaged cells and preventing cancer. It produces a protein called p53 that naturally targets and eliminates potentially problematic cells.
Research has shown that the TP53 gene mutation is present in about
The KRAS gene mutation mainly affects individuals who have smoked, and it accounts for about 30% of all NSCLC cases.
Of all people living with NSCLC, about 5% have a MET gene mutation. This mutation is often more aggressive than NSCLC cases where the mutation is not present.
The ALK gene mutation affects about
Similar to other genes, it is responsible for the growth and division of cells. Also, it is more common among those who do not smoke and young people.
The BRAF gene mutation is common in individuals who used to or currently smoke. It affects about
Gene mutations can affect anyone, although some are more common in certain groups of people.
For instance, the KRAS and BRAF gene mutations both occur more frequently in people who used to or currently smoke. By contrast, the ROS1 and ALK gene mutations
A person who has a parent with a genetic mutation also has a higher likelihood of inheriting a mutation from one of their parents.
People at risk of developing an inherited form of NSCLC should contact a doctor about when and how often they should get screenings.
While experts still do not fully understand the mutations, which is due to the prevalence of smoking-related risk factors, a person with an inherited gene mutation may have a higher chance of successful treatment with targeted therapies.
According to the
However, several other factors can increase a person’s risk of having NSCLC in their lifetime, including exposure to:
- secondhand smoke
- air pollution
- diesel exhaust
Chemical exposure, as well as inherited or acquired gene mutations, can also play a role.
The Lung Cancer Foundation of America recommends that people who have received a NSCLC diagnosis get genetic or biomarker testing. These tests look at the gene mutation responsible, which can allow a doctor to provide targeted, more effective treatment for the person.
A biomarker test involves a biopsy. How a doctor carries out the biopsy will vary and can include the use of a long needle, bronchoscope, or other tools.
Once the doctor has removed the tissue, they will send the sample to a laboratory for testing to look for the presence of mutations.
The amount of time it takes to receive test results can depend on the sample size, the laboratory, and the office taking the sample. If results are required quickly, a doctor may request a rush order to get them as fast as possible.
Treatment for NSCLC can depend on which genes have become affected.
A person with a genetic mutation may qualify for targeted therapies. These therapies can help address the exact issue causing the cells to grow uncontrollably.
Standard treatments can also vary based on the stage of the cancer. Some common treatment options
- radiofrequency ablation
- radiation therapy
- palliative care
Treating NSCLC with targeted drug therapy is a newer treatment approach with promising results. Consequently, these types of therapies are undergoing clinical trials to determine how effective and safe they are in the general population.
Clinical trials involve several stages to test the effectiveness and safety of medications.
There are three main stages. The first stage generally involves the smallest number of participants, while tests in the third stage are often larger and closer to the release of the medication for prescription use.
Clinical trials regularly look for participants. A person interested in taking part in a clinical trial may wish to consult a doctor about any studies they believe the person may be eligible for.
Individuals may also look for recruiting trials on the
Genetic mutations, both inherited and acquired, account for several cases of NSCLC.
When a doctor finds the genetic mutation responsible, they may be able to use targeted therapy to better treat the cancer.
A person who receives a lung cancer diagnosis should contact a doctor about undergoing tests for genetic mutations. They may also wish to consider discussing signing up for a clinical trial.