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

Genes make up our genetic material, called DNA, which act as a set of instructions for our body. Genes are specific segments within the DNA sequence that each code for a specific function within the body. These functions can range from helping to determine our hair or eye colors to various impacts on our overall health.

There are certain genes that defend our body from cancer by regulating the growth, division and death of the cells in our body. When these genes do not work properly, the risk of developing cancer increases.

“If someone has a change in one of these genes that prevents their body from reading through the genetic code properly, called a pathogenic variant, then the body is unable to carry out the function that that gene codes for. Just like if there was a spelling error in an instruction manual that prevents the reader from being able to understand the instructions,” said Victoria Ballard, 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

These types of cancer include:

•  Breast cancer in women and men
• Ovarian cancer
• Pancreatic cancer
• Prostate cancer
• Melanoma

While having a pathogenic variant in these genes increases the risk for these cancer types, even if you do not have a pathogenic variant in BRCA1 or BRCA2, you can still develop these types of cancers.

How to know if there is a genetic risk factor for cancer in your family

Your health care provider may use your family and personal history to help determine if you are at risk for having a pathogenic BRCA variant. 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 pathogenic BRCA1 or BRCA2 variant

If you have a pathogenic BRCA1 or BRCA2 variant, your provider may recommend additional prevention strategies, which can include both screening and risk-reduction options.

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

“Some people may also choose to pursue risk-reducing surgeries or medications,” said Victoria. “Knowing about the increased risk is helpful because it allows your medical team to help address it.”

Talk to your family if you have a BRCA1 or BRCA2 variant

If you have a pathogenic variant in BRCA1 or BRCA2, you should tell your family members. They also may have the variant.

Each of your biological children has a 50 percent chance of inheriting the variant and your siblings and other relatives also may be at risk. Talk to your provider if you have questions.

Research in genetics is ongoing. It is possible that other cancers are related to these genes and there are many additional genes related to breast cancer beyond the BRCA1 and BRCA2 genes.

“We recommend that you periodically check with your provider or genetic counselor for the latest information,” said Victoria.