When my doctor (HCP) told me that I needed HER2 and BRCA testing, I nodded politely as if I completely understood everything she said. But in reality, I had no idea what those letters meant.
BRCA and HER2 were just part of the shortcut soup that was thrown into my lap after I was diagnosed with breast cancer.
But I quickly learned that biomarkers like BRCA and HER2 are important pieces of the complex cancer puzzle when it comes to understanding and treating the disease.
Cancer biomarkers and the importance of biomarker testing
Cancer biomarkers are proteins, genes, and other substances that can be measured to reveal details about a person’s cancer or risk of cancer.
Cancer varies from person to person at the gene or protein level, and biomarker testing can help doctors create a personalized treatment plan to combat the disease – also called precision medicine.
“Some biomarkers help healthcare providers identify the exact type or subtype of cancer. Others help predict whether a patient is likely to benefit from a particular treatment, such as a targeted drug or immunotherapy,” said medical oncologist Leyre Zubiri Oteiza, MD, Ph.D. “In some types of lung cancer, for example, there is a change in a gene called EGFR. Patients with this change can receive pills that specifically target this mutation and often work better than standard chemotherapy.”
Biopsies or blood tests for biomarkers can also provide information about signs of genetic or molecular mutations, how the cancer behaves over time, how aggressive the cancer may be, and/or the risk of the cancer coming back. “Equally important, biomarker testing can help avoid treatments that are unlikely to work, saving time and reducing unnecessary side effects,” said Zubiri Oteiza.
Read Biomarker 101 >>
The latest actionable biomarkers in cancer treatment
The discovery of cancer-specific biomarkers has fundamentally changed the treatment of the disease.
“In the past, health care providers tended to select their treatments based on where the cancer originated in the body, such as the lung or breast, and how the cancer looked under the microscope,” said Zubiri Oteiza. “[Now] Some treatments are based on the biomarker and not where the cancer originated.”
Today, there are many biomarkers that are actionable biomarkers, meaning that one or more treatments are available that directly target the biomarker, thereby stopping cancer growth. “Actionable biomarkers have led to the development of highly effective drugs that can achieve better results than traditional chemotherapy,” said Zubiri Oteiza.
An example of an actionable biomarker is an NTRK gene fusion. When this biomarker is present, targeted therapies can block it, regardless of the type of cancer.
“Overall, these advances help patients live longer and with better quality of life, while making cancer treatment more precise and personalized,” said Zubiri Oteiza.
The newest actionable cancer biomarkers include:
- Programmed Death Ligand 1 (PD-L1): PD-L1 prevents the immune system from attacking cancer cells in many different types of cancer, including bladder, breast, kidney, stomach, cervical, and non-small cell lung cancer.
- Depending on the type of cancer, people with high levels of PD-L1 may respond to an immunotherapy called immune checkpoint inhibitors, which prevent PD-L1 from binding to T cells (white blood cells that destroy cancer cells) and allow the immune system to kill the cancer cells.
- Trophoblast cell surface antigen 2 (TROP2): TROP2 is a biomarker of tumor aggressiveness in various types of cancer, including colon, pancreatic, stomach, breast and non-small cell lung cancer.
- TROP2 is the target of a targeted cancer therapy called antibody-drug conjugates (ADCs).
- Epidermal growth factor receptor (EGFR): When EGFR proteins are mutated or overexpressed, they accelerate cancer progression in people with lung cancer.
- EGFR is a target for various cancer therapies, including tyrosine kinase inhibitors.
- FLT3 internal tandem duplication (FLT3-ITD): FLT3-ITD is an aggressive genetic mutation that causes rapid cell growth in acute myeloid leukemia and is associated with high relapse rates and poor outcomes.
- The presence of FLT3-ITD guides personalized treatments for FLT3 inhibitors and early stem cell transplantation.
- Human epidermal growth factor receptor 2 (HER2): Cancers with high levels of HER2 protein or genes are called HER2 positive and tend to grow quickly and spread to other parts of the body.
- HER2 targeted therapy is used for HER2-positive cancers of the breast, stomach, esophagus, ovaries, pancreas and bladder.
Here’s how to talk to your doctor about biomarker testing
Biomarker testing is now standard care, but it is important to talk to your doctor about what to expect and which biomarkers to consider.
“Your doctor can explain to you what tests are needed, whether they require tumor tissue or a blood sample, and how the results may affect your treatment plan,” said Zubiri Oteiza. “Sometimes the tumor itself is tested as part of a biopsy, other times this can be done through a blood test, a so-called liquid biopsy.”
It’s a good idea to write down any questions you have about biomarker testing and review them with your HCP.
Questions about biomarker testing may include:
- Do I need a tissue biopsy or a liquid biopsy?
- What biomarkers do you test for?
- Are there other tests that can measure the same biomarkers?
- How will you use the information to recommend a treatment plan and will the results change my treatment options?
- Does my insurance cover the cost of biomarker testing? If not, what financial support options do I have?
“Being informed and asking questions can help you take an active role in your care and ensure you explore all available options,” said Zubiri Oteiza.
This educational resource was created with support from Daiichi, a member of the HealthyWomen Corporate Advisory Council.
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