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What Is Molecular Profiling?

Molecular profilingwhich identifies the unique DNA changes in a person's tumor—can help doctors understand more about your tumor.

Molecular profilingwhich identifies the unique DNA changes in a person's tumor—can help doctors understand more about your tumor.

Cancer is often caused by one or more genes in your body that have changed. There are different types of abnormal gene changes or defects that can cause CCA. Some of these changes include:


This is a change to a specific portion of normal DNA sequence within a gene.

Gene amplification

This occurs when the number of copies of a gene is increased beyond what is normal.

Gene fusion

This occurs when parts of two different genes become joined together.

Over time, advances in technology have given healthcare professionals the ability to look very closely into the tumor to identify specific gene changes or defects. This kind of detailed tumor study is called molecular profiling. As scientists and healthcare professionals continue to study tumors, new gene changes or defects are being discovered every day.

What is the difference between “genetic” testing and “genomic” testing?

Genetics and genomics are two terms you might come across as you look for information about CCA. While these words sound similar, they mean different things:


refers to the study of single genes and how they are involved in passing down specific traits from parents to their children. Genetic testing helps identify genetic conditions that run in the family that may be inherited such as sickle cell anemia and cystic fibrosis


is the study of how all of a person’s genes interact with each other and the environment. Molecular profiling is a type of genomic test that looks for abnormal gene changes inside cancer cells

Your healthcare team may be able to use molecular profiling to identify the specific genomic mutations unique to your tumor. This information can help them develop a care plan for your unique CCA.

When should I talk to my oncologist about molecular profiling?

Since molecular testing can provide information that may help direct the way your disease is managed, the Cholangiocarcinoma Foundation recommends testing as early as possible. For this reason, you should talk to your oncologist about molecular profiling as early as possible after your diagnosis, ideally before a biopsy is performed. The National Comprehensive Cancer Network® (NCCN®) recommends consideration of molecular profiling when the tumor cannot be removed by surgery or when the cancer is metastatic, meaning it has spread to other parts of the body.*

However, even if some time has passed since your diagnosis, it may not be too late to talk to your oncologist about molecular profiling.

*Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Hepatobiliary Cancers V.3.2019. © National Comprehensive Cancer Network, Inc. 2019. All rights reserved. Accessed September 23, 2019. To view the most recent and complete version of the guideline, go online to NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.

Ask your oncologist how molecular profiling may help your journey move forward

Molecular profiling can help you better understand your cancer and have productive conversations with your oncologist.

Here are some questions you may want to ask your oncologist:

  • What can you tell me about molecular profiling for my CCA?
  • How can molecular profiling impact how my CCA is managed?
  • Could the results of molecular profiling qualify me for any specific clinical trials?

Talk to Your Oncologist Today
About Molecular Profiling!

This discussion guide may help start the conversation.

Did You Know?

The latest technology—called next-generation sequencing (NGS)—has made molecular profiling more comprehensive.
It can test one tumor sample for hundreds of gene changes or defects at one time.

How does molecular profiling work?

Among your care team, your oncologist is responsible for ordering molecular testing.

  • 1 A small sample, called a tissue biopsy, will be removed from your tumor.
  • 2 Your tumor sample is then sent to a special laboratory where tests will be performed to find unique characteristics of your tumor (biomarkers). These biomarkers can be genes or other molecules that signal if disease is present.
  • 3 A list of the types of genes found in the cells from your tumor sample is then compared to normal samples for reference.
  • 4 Your oncologist receives a report with the results of your molecular profiling.

Can I receive molecular profiling if I already had a biopsy?

If your oncologist performed a biopsy, but did not order molecular profiling, it may not be too late. An additional biopsy may be needed to provide enough tissue for molecular profiling. Talk to your oncologist and ask if molecular profiling is still possible.

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