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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.

  • To perform molecular profiling, doctors take a sample of tissue from the tumor and look for any abnormal gene changes that may be present
  • The information doctors receive from molecular profiling can help inform how the disease is managed
  • Next generation sequencing, or NGS, is a specific type of molecular profiling that can test one tumor sample for hundreds of gene changes or defects at one time

Read on to learn more about molecular profiling.

Molecular Profiling Discussion Guide

Need help getting the conversation started? This guide can help.

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 soon as possible. For this reason, you should talk to your oncologist  about molecular profiling as soon as possible after your diagnosis, ideally before a biopsy is performed.

The National Comprehensive Cancer Network® (NCCN®) recommends that doctors perform 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.

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

Molecular profiling can help you and your healthcare team better understand your
cancer and how best to approach it.

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?

Looking for more help getting the conversation started? This free Molecular Profiling 
Discussion Guide
 can help.

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.

Ask your doctor about NGS

How can molecular profiling help find abnormal 
gene changes in my 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.

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.

Patient Stories

Real patients with CCA and their caregivers share their personal experiences with molecular profiling.

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MAT-ONC-00220  09/23