What is Biomarker Testing?

Over the last two decades, new advancements have made it possible to look very closely inside a person’s genetic makeup to see exactly which mutations are present in cancerous cells. Mutations are changes in the DNA of a cell that can cause a cell to make (or not make) proteins that affect how the cell grows. Unfortunately, certain mutations can cause cells to grow out of control, which can lead to cancer.

By using biomarker testing, which can also be referred to as molecular profiling, scientists have gained a much better understanding of how cancer operates in the body, opening the door to new treatments that best respond to an individual’s specific type of cancer.

An oncologist can test for mutations two ways: via a liquid biopsy (a blood test) or a tissue biopsy (a sample of tissue taken from the body).

What is an IDH1 or IDH2 Mutation?

Mutations, like an isocitrate dehydrogenase-1 (IDH1) or isocitrate dehydrogenase-2 (IDH2) mutation, are changes in the DNA of a cell, which can play a role in the development of some diseases, including:

  • Acute myeloid leukemia (AML): IDH1 mutations are present in about 6 to 10% of AML cases.1 IDH2 mutations occur in up to 19% of patients with AML.2
  • Cholangiocarcinoma (CCA): IDH1 mutations occur in up to 20% of CCA cases in the U.S. and are not associated with prognosis.3
biomarker testing


How Can Biomarker Testing Help with a Cancer Diagnosis?

Biomarker testing has paved the way for more targeted therapies, and it’s important for patients diagnosed with cancer to have open and candid conversations about mutational testing with their oncology team at diagnosis. 

Since mutations can play a role in the development of a disease, testing for mutations can help your healthcare team understand which targeted therapies and treatments may work for you. 

Here are some questions to ask your oncology team:

  • Will you test for mutations?
  • Can you do the test now?
  • How long will it take to receive the results?
  • What are my treatment options and how will my treatment regimen be determined?
biomarker testing

1. DiNardo C. Durable Remissions from Ivosidenib in IDH-1-Mutated Relapsed or Refractory AML. New England Journal of Medicine. June 2, 2018.

2. Döhner H., Weisdorf DJ, Bloomfield CD. Acute myeloid leukemia. N Engl J Med. 2015;373(12):1136-115

3. Boscoe, A., Rolland, C., & Kelley, R. (2019). Frequency and prognostic significance of isocitrate dehydrogenase 1 mutations in cholangiocarcinoma: a systematic literature review. Journal Of Gastrointestinal Oncology, 10(4), 751-765. https://jgo.amegroups.com/article/view/28868

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