Genetic Counseling, Testing, and Treatment for People with BRCA Gene Mutations


“About 20 years ago, there was much debate about the ethical and clinical implications of identifying a gene mutation linked to cancer risk,” said Kenneth Offit, Director of the Clinical Genetics Service at Memorial Sloan Kettering, at a CancerSmart discussion on hereditary cancers and genetics.

Dr. Offit explained that before the discovery of the BRCA gene mutations, which increase the risk of breast cancer and some other cancers, doctors were already performing preventive breast surgery in women with a strong family history of the disease.

“The paradox is that we are actually doing fewer preventive breast surgeries now because people who thought they were at risk for breast cancer learned they did not have the gene mutation,” he added.

Most cancers are caused by spontaneous changes, called mutations, in genes. Gene mutations that are passed down through families (inherited) can lead to what are referred to as hereditary forms of cancer. BRCA gene mutations, which include mutations in the BRCA1 and BRCA2 genes, were the first to be associated with hereditary cancers. In addition to breast cancer, they are linked to familial ovarian, prostate, and pancreatic cancers.

Who Should Consider Genetic Testing

According to breast surgeon Alexandra Heerdt, there is a fundamental difference between hereditary breast cancer, in which multiple genes place a woman at increased risk for the disease, and breast cancer caused by a BRCA mutation. In fact, while a significant number of women with breast cancer have a family history of the disease, fewer than one in ten of these are considered cases of hereditary breast cancer — and only a subgroup of the hereditary cases are caused by a BRCA mutation. BRCA mutations are more common in people from certain ethnic groups, such as Ashkenazi Jews of Eastern European descent.

Genetic counselors look for red flags, such as having had several relatives diagnosed with breast cancer at an early age, to determine if genetic testing is appropriate, said Memorial Sloan Kettering genetic counselor Emily Glogowski.

Genetic testing involves analyzing tissue from a blood test or a cheek swab to look for mutations in a person’s DNA. Because of the complex decisions that may stem from learning about one’s genetic profile, experts recommend that most people wait until age 20 to 25 before getting tested for BRCA1 and BRCA2 mutations. “Determining whether testing should be done, or what tests should be ordered, is a very individualized process,” explained Ms. Glogowski.

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Cancer Prevention in Women with a BRCA Mutation

Surgery to remove the ovaries is recommended for women who have a BRCA mutation, as there is no consistently reliable or accurate way to screen for ovarian cancer (especially for early-stage disease).

Depending on a woman’s family history of breast cancer and the type of mutation she has, doctors may prescribe regular breast screening with MRI or chemoprevention with estrogen-blocking drugs such as tamoxifen. Preventive breast surgery (mastectomy) is another option for women with a family history of breast cancer and a BRCA mutation. “Your family’s experience with cancer figures dramatically into the decision about whether or not to have preventive surgery,” Dr. Heerdt said.

The panelists observed that Memorial Sloan Kettering’s collaborative approach helps patients navigate a variety of difficult decisions while giving them access to the latest prevention and treatment strategies.

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I am trying to get an appt. for genetic testing. My oncologist wanted me to have it, but my calls go unanswered when I try to make an appt.

Mary, we’re sorry that you’re having a hard time getting through. We’re not sure what number you’ve been calling, but the number for the Clinical Genetics Service is 646-888-4050. They are open Monday through Friday from 8:00 am to 6:00 pm ET. You might also want to try calling our Physician Referral Service at 800-525-2225. Thank you for your comment.

Thank you so much. Thank you for being so caring.

Is there a reason why you would have a cheek swab instead of a blood test for BRAC testing? My mother and sister died of ovarian cancer another died of breast cancer, as did a cousin (maternal uncle's daughter). I had an oophractomy 20 years ago but was not tested for the gene. I am going to be tested now and was wondering which is the best option.

Judy, thank you for your comment. BRCA1/2 testing is performed on a sample of DNA. We can obtain a high yield of DNA from blood samples and therefore it is often the preferred sample type. However, DNA can also be obtained from other sources from our bodies including cheek swabs or saliva. If you would like to learn more about genetic testing and MSK’s Clinical Genetics Service, you can go to

I would like to know if there is genetic testing and immunotherapy treatment in the works for colon cancer?

Dear Joseph, there is genetic testing available for people at high risk for colon cancer. To learn more, please visit the Clinical Genetics section of our website:….
We have also established a registry for families who are affected by various types of hereditary colorectal cancer syndromes. The registry is allowing researchers to learn more about the genetic causes of colorectal cancer. More information about the registry is available here:

In addition, we are investigating the use of immune therapies for people with colorectal cancer. To browse through those clinical trials, please visit….

If you have additional questions about these studies or would like to make an appointment, please call our Physician Referral Service at 800-225-2225.

We hope this information is useful. Thank you for reaching out to us.

My friend's daughter just tested positive for the Braca2 gene. Who at Sloan would be the best physician to see? Thank you

Dear Phyllis, MSK offers a program for women at high risk for breast cancer called the Risk Assessment, Imaging, Surveillance, and Education (RISE) Program. She can learn more about the services offered by visiting…. If she would like to make an appointment, the phone number is 646-497-9064. Thank you for reaching out to us.