About Mutations in the PALB2 Gene

This information explains how having a mutation in the PALB2 gene may affect you and your family.

In this resource, the word “family” means family members related to you by blood. They are not related to you through marriage or adoption.

Your PALB2 gene normally helps prevent cancers. A mutation in this gene causes it to stop working like it should. This increases your risk for certain types of cancers.

Back to top

What is my cancer risk if I have a PALB2 mutation?

A PALB2 mutation increases your risk for breast cancer. It can also increase your risk for pancreatic cancer, but this is less common.

A PALB2 mutation may also increase your risk for ovarian cancer, but more research is needed for us to better understand this risk. Your genetic counselor will give you more information about what we know so far and what it means for you.

As we learn more about these mutations, we may learn they increase the risk for other types of cancers. Your genetic counselor will give you more information about your cancer risk if you have a mutation.

For more information, read Hereditary Breast Cancer and Hereditary Pancreatic Cancer.

For more information, read Hereditary Breast Cancer - www.mskcc.org/genetics/breast-cancer and Hereditary Pancreatic Cancer - www.mskcc.org/genetics/pancreatic-cancer

Back to top

What can I do about my cancer risk if I have a PALB2 mutation?

If you have a mutation, your genetic counselor will review your results and your personal and family history of cancer and give you cancer screening recommendations.

They may recommend you start having cancer screenings at a younger age, have them more often than most people, or get specialized screenings to help find cancer as early as possible.

Some examples of these cancer screenings include having breast magnetic resonance imaging (MRI) scans and mammograms (x-rays of your breast) starting at an earlier age.

Your genetic counselor will also talk with you about whether there are any other screening or prevention options that may be right for you.

Back to top

What happens if I don’t have a PALB2 mutation?

If you don’t have a mutation, your genetic counselor will review your personal and family history and talk with you about the general cancer screening guidelines you should follow.

Back to top

What does a PALB2 mutation mean for my blood relatives?

If you have a mutation, your biological parents, siblings, and children each have a 50% chance of having the same mutation. This means there’s an equal chance they will or won’t have the mutation. Your distant family members may also be at risk for having the same mutation.

Males and females have an equal chance of passing down a mutation in their family. You only need to inherit a mutation from one parent to have an increased risk for cancer.

Your genetic counselor will review your family history and talk with you about whether they recommend genetic testing for your blood relatives.

Back to top

What does this mean for family planning?

If you have a PALB2 mutation and plan to have children, there are options to prevent your children from inheriting the mutation. You may want to consider discussing these options especially if both you and your partner have a PALB2 mutation.

If you both have a mutation in the PALB2 gene, which is rare, there’s a chance your child could be born with a serious condition called Fanconi Anemia (FA). FA is a genetic disorder that can cause birth defects, bone marrow failure, and a risk of cancer. If you already have children, it’s unlikely they have FA since this is usually diagnosed early in life. For more information about genetic testing and family planning, talk with your genetic counselor.

Back to top

Contact Information

If you have any questions or concerns, talk with a genetic counselor in the Clinical Genetics Service. You can reach them Monday through Friday from 9:00 am to 5:00 pm  at 646-888-4050.
Back to top

Tell us what you think

Tell us what you think

Your feedback will help us improve the information we provide to patients and caregivers. We read every comment, but we're not able to respond. If you have questions about your care, contact your healthcare provider.
 

Questions Yes Somewhat No

Last Updated