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      HomeLatest newsInnovationWhat is a gene mutation?
      Four 3D DNA structures illustration

      What is a gene mutation?

      Experts aren’t sure why, but sometimes changes in DNA can trigger cancer to grow and spread. For DNA Day learn all about gene mutations—and Johnson & Johnson’s work developing new therapies to target these specific types of cancer.

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      A gene mutation is a small change that occurs in your DNA. It can happen at any time. Often, these alterations have little effect. But other times, they can trigger uncontrolled cell growth, which can encourage diseases like cancer to develop, grow and spread.

      These mutations can be caused by several factors, explains Joshua Curtin, Director of Oncology Translational Research, Johnson & Johnson Innovative Medicine. Take lung cancer, for example. While anyone can be susceptible to lung cancer, cigarette smoking is a common trigger of mutations, which may increase cancer risk. At the same time, exposure to air pollution or other toxins can have the same effect. In other instances, however, mutations happen without a clear causative event.

      Often, your body’s own mechanisms, including the immune system, can eliminate these mutations, Curtin says. “But, every so often, some mutations evade those mechanisms, and sometimes this could lead to cancer.”

      It’s important to note that not all cancers are caused by gene mutations. But, one example of a gene mutation’s link to cancer is the EGFR, or epidermal growth factor receptor, gene. EGFR mutations are often connected with non-small cell lung cancer (NSCLC). These are mutations that only occur in tumor cells; they are not usually mutations that can run in a family.

      “In most cases, we don’t understand why the mutations that ultimately lead to cancer occur,” Curtin says. But some populations are prone to them. He notes that EGFR mutations cause about 10 to 15% of lung cancers in the U.S. and up to 50% in eastern Asia. Patients with EGFR-mutated lung cancer are more likely to have little or no prior exposure to smoking or tobacco, but anyone can develop these cancers.

      How identifying gene mutations can lead to better patient outcomes

      Put simply: Identifying EGFR mutations in patients with lung cancer may lead to more effective treatments. Traditionally, lung cancer was considered a “homogenous disease with awful outcomes,” explains Joshua Bauml, Global Medical Head, Lung Cancer, Johnson & Johnson Innovative Medicine. But scientists now know that the condition can be broken down to identify what’s specifically causing someone’s lung cancer, which can include the EGFR mutation.

      When patients are diagnosed with NSCLC, they undergo gene sequencing to identify whether they have a mutation in EGFR or another gene, Bauml explains. This involves taking a biopsy of a tumor and testing it for genetic alterations or performing a blood test to detect these biomarkers.

      “That’s transformational,” he says, explaining that this process enables doctors to offer targeted treatments to patients, which may improve survival rates and slow down disease progression.

      The benefits of targeted therapies for people with lung cancer

      Patients with EGFR-mutated lung cancer are typically given targeted therapies or medications designed and developed specifically to target that mutation, Curtin says. These targeted therapies can be more effective than chemotherapy and immunotherapy, which are usually prescribed for patients with cancer without this mutation, Bauml adds.

      That’s why scientists at Johnson & Johnson are committed to developing targeted treatments for patients with lung cancer with EGFR mutations. One treatment works by inhibiting tumor growth and engaging the immune system to help battle the tumor. It is currently approved in patients with NSCLC with a certain type of EGFR mutation.

      Curtin says this targeted therapy represents “a significant and important innovation in this field of EGFR-mutated lung cancer.”

      Johnson & Johnson submitted the findings of new research to health regulatory authorities in hopes of making treatment options available to broader patient populations with EGFR-mutated NSCLC, Curtin adds.

      Another treatment being developed is a “small molecule inhibitor” that targets the inside of the EGFR protein, explains Bauml.

      Lung cancer is the leading cause of cancer death worldwide, and Johnson & Johnson continues to research and develop innovations in targeted treatments for patients.

      “We are committed to transforming the treatment of lung cancer for patients and their families,” Curtin says.

      More ways Johnson & Johnson is working to eliminate cancer

      See how researchers are developing preventive approaches for early detection, creating new therapies and surgical devices and more.

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