Patient Care

Could I Have a BRCA Gene Mutation? Genetic Testing May Help You Find Out.

Aug. 21, 2019

Carol Lustig and Bonnie Smorolo discuss genetic testing for BRCA gene mutation.If you have a family history of breast or ovarian cancer, should you be tested for the BRCA 1 or BRCA 2 genetic mutation?

While chances of having a BRCA mutation are fairly small – only about 5 to 10% of breast cancers and 15% of ovarian cancers are attributed to the BRCA mutation – knowing if you have it can empower you to take steps to reduce your chances of getting these types of cancer.

The US Preventive Services Task Force (USPSTF) recently released an updated recommendation statement around this question. In a nutshell, the statement says women with a personal or family history of breast, ovarian, tubal or peritoneal cancer should talk to their doctor and, depending on results of a risk assessment, should consider genetic counseling and/or genetic testing.

Bonnie Smorol, of Walworth, knows first-hand how important this is. One of her aunts was diagnosed with breast cancer years ago, and then in the last year, a second aunt learned she had ovarian cancer. Her second aunt also found out she has the BRCA2 gene mutation.

After consulting with her primary care provider, Smorol received a referral to Wilmot Cancer Institute’s Hereditary Cancer Screening and Risk Reduction Program. She met with Carol Lustig, R.N., M.S.N., A.N.P.-B.C., a nurse practitioner and assistant clinical director for the program. Lustig helped Smorol map out her family cancer history in detail and also shared important information about genetic testing, including what it means if she were to have the BRCA genetic mutation.

So what is the BRCA gene mutation? BRCA stands for BReast CAncer gene, although today, the gene is also associated with some other cancers, such as ovarian cancer. Everyone has BRCA genes in their bodies, but this is where it can get confusing. The BRCA gene itself is harmless, and is in fact important for us to have, because its main function is to suppress tumors. This protects us if a cell begins to divide too rapidly.

The problem happens when the BRCA gene changes – a genetic mutation – that turns off this protective factor, which can dramatically increase chances of some types of cancer.

Having a mutation in the BRCA1 or BRCA2 genes can increase a person’s risk of breast cancer by 45% to 65% by age 70, and a person’s risk of ovarian cancer increases to 39% if you have BRCA1 and 10 to 17% if you have BRCA2.

Those odds felt scary for Bonnie, who is 60 years old. Then she met with Michelle Shayne, M.D., director of the Hereditary Cancer Screening and Risk Reduction program and a breast oncologist at Wilmot.

They discussed various options, including individualized screening, medications or surgery. Smorol opted for surgery, which she is scheduled to have on Halloween this year.

“It gave me power to know it was in my hands now,” she says.

Now that she has been through this, Smorol has become an advocate for telling other women who have a family or personal history of cancer to talk to their doctors. She believes it’s important to discuss, which is what the USPSTF recommendation says, too. She spreads the word however she can, when talking to people in person and has even gotten involved with online BRCA support groups.

Finding out can be scary, but if you do have a mutation, knowing about it can help you take action that could potentially prevent your own breast cancer.

“Patients need to feel empowered to ask their doctor if they qualify,” Lustig says. “If you find out you have it, now you can have some control over this.”


To learn more about Wilmot Cancer Institute’s Hereditary Cancer Screening and Risk Reduction program, please call (585) 275-5863.