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BRCA1 and BRCA2 and their effect on cancer

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BRCA1 and BRCA2 are genes that help prevent certain cancers in both women and men.

Thousands of genes in our bodies act as instruction manuals for our body. Some genes affect our hair or eye color, while others hold instructions for more serious matters.

There are actually genes that defend our body from cancer by stopping cells from growing too much. When these genes do not work properly, the risk for developing cancer is higher.

BRCA1 and BRCA2 are genes that help prevent certain cancers in both women and men.

“If someone has a mutation in one of these genes, then their body cannot read that genetic code properly. Just like if there was a spelling error in an instruction manual,” said Katie Plamann, M.S., genetic counselor with Marshfield Clinic Health System.

A BRCA1 or BRCA2 genetic mutation puts women and men at a higher risk of developing certain types of cancer including:

Even if you do not have a BRCA1 or BRCA2 gene mutation, you can still develop these types of cancers.

How to know if there is a mutation in your family

Your doctor may use your family and personal history to help determine if you are at risk for having a BRCA mutation. Information they may need includes:

  • What type(s) of cancer you have had (if any).
  • How old you were at the time of your cancer diagnosis or diagnoses.
  • What types of cancers are present in your family.
  • How old your relatives were when they were diagnosed with cancer.

If your doctor believes you should consider genetic testing, they will refer you to a genetic counselor. Your genetic counselor can help determine the best test for you, coordinate the testing if you choose to proceed, and review the implications of your results for yourself and your family members.

What happens if you have a BRCA mutation

If you have a BRCA1 or BRCA2 mutation, your doctor may recommend additional prevention strategies.

This may include completing screenings, such as a mammogram, earlier in life and more frequently. They also may recommend other screening methods, such as breast MRI.

“Some people actually choose to pursue risk-reducing surgeries or medications,” said Plamann. “The best thing we can do is to know about the increased risk so we can manage it.”

If you have a BRCA1 or BRCA2 mutation, you should tell your family members. They also may have the mutation. Each of your biological children has a 50 percent chance of inheriting it from you and your siblings and other relatives also may be at risk. Talk to your doctor if you have questions.

Research on genetic mutations is ongoing. It is possible that other cancers are related to these genes and there are many more genes related to breast cancer beyond the BRCA1 and BRCA2 genes. You should check with your doctor or genetic counselor regularly to get the latest information.

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