Who needs genetic testing for breast cancer? Check if you do!

A 58-year-old woman comes in for her routine annual exam. She is a new patient and reports a history of breast cancer herself about 10 years ago, her maternal grandmother also was diagnosed with breast cancer in her 60s and one of her aunts had an unknown "female cancer" that she died from. She wants to know what this means for her son's and daughter's future. 

This is a common patient I see from day to day. She automatically meets the criteria for breast cancer genetic testing, but some patients are not as straight forward. As an OB/GYN, I am in a unique position to identify women who potentially could have a genetic risk of breast cancer and I want you mujeres to check if you meet criteria so you can get tested! 

The statistics are alarming! Each year, 35,000 breast cancers are due to hereditary risk. But if you do happen to test positive, you can benefit from enhanced surveillance, chemoprevention treatments, and even risk-reducing surgeries!

So you should get tested if you or a first- or second-degree relative have had:

• Breast cancer at age <50 years

• Ovarian cancer at any age

• Triple-negative breast cancer at age <60 years (if not sure ask your doctor or family member's doctor)

• Male breast cancer at any age

• Metastatic prostate cancer at any age (Yes prostate cancer is associated with breast and ovarian cancers in women)

• Ashkenazi descent with any of the above cancers

• Known mutation carrier for breast cancer gene

• Three cancer diagnoses on the same side of the family at any age including breast, ovarian, pancreatic or aggressive prostate cancer

Remember, if you test positive, your children have a 50% risk of also testing positive, so it is good to consider testing. But yes, What if they don't want to get tested? Fair enough. It is recommended that they start with breast MRIs as early as age 25 to potentially detect cancer early. Also important, when your children are ready to conceive, they could also consider preimplantation genetics diagnosis to prevent their children from also carrying the gene! Perfect!

What should you do if you test positive? It is always important to review your results with your doctor and most importantly set up a meeting for genetic counseling. Genetic counseling is valuable and helps you decide what to do next now that you have this diagnosis. There is also an important law called the Genetic Information Nondiscrimination Act which protects patients from insurance and employment discrimination after testing positive. Also, the Affordable Care Act considers BRCA testing as a preventive service and close to 100% of commercial insurances or state Medicaid programs cover testing if you meet criteria. 

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So our patient did end up testing positive for the BRCA-1 gene. Since she knows her diagnosis, her children are in the process of deciding whether or not they want to test. Prevention is key and now because the patient took the step to get tested herself, her children have the power to prevent cancer and that's amazing! Save your life or the life of a family member. You are so worth it.

Xoxo,

Dr. E

Comment below if genetic testing has saved your life or someone you know!!!

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