This information explains how having a mutation in the CDKN2A 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 CDKN2A 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 topWhat is my cancer risk if I have a CDKN2A mutation?
If you have a mutation in the CDKN2A gene, this means you have a condition called Familial Atypical Multiple Mole Melanoma (FAMMM). FAMMM syndrome increases your risk for certain types of cancers, including:
- Pancreatic cancer
- Melanoma (a type of skin cancer)
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 Pancreatic Cancer.
For more information, read Hereditary Pancreatic Cancer - www.mskcc.org/genetics/pancreatic-cancer
Back to topWhat can I do about my cancer risk if I have a CDKN2A 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:
- Visiting a dermatologist (skin doctor) to have your skin checked for signs of cancer
- Having pancreatic cancer screenings
Your genetic counselor may talk with you about whether pancreatic cancer screenings through a research study may be something for you to consider.
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 topWhat happens if I don’t have a CDKN2A 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 topWhat does a CDKN2A 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.
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