I recently had a young patient who wants a breast augmentation and she is BRCA positive. So the question is what is her risk? And more importantly WHEN?
We know your risk of breast cancer when you are BRCA positive is high. Depending on which one you have, the risk is 50-80%. (The typical lifetime risk for women is 12%) That number is real and it’s high. But the next question is when? Are you safe until age 30? age 40? When do you need to start being super vigilant about mammograms? Do you need to have kids in your 20s? When should you do a prophylactic mastectomy (breast removal) and remove the ovaries?
Whew. That is a lot.
And it is also associated with colon cancers and pancreatic cancer. And men who are BRCA positive have an 8% chance of getting breast cancer and an increased risk of prostate cancer.
So I found this study, out of the Journal of American Medicine JAMA from 2017. “Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA 1 and BRCA 2 Mutation Carriers.”
STUDY:
- Prospective cohort, 9856 mutation carriers, found through genetic clinics
- Cumulative breast cancer risk to age 80 was 72% for BRCA 1, and 69% for BRCA 2
- The risk for Ovarian cancer was 44% and 17%
- Cancer risks difference by cancer family history and mutation position.
Digging into the details on WHEN people got the cancers:
- The cancer rates increased rapidly in early adulthood until ages 30-40 years for BRCA 1, and 40-50 years for BRCA 2.
- Then the rate stayed constant, 20-30 per 1000 person years until age 80
- For contralateral breast cancer, the cumulative risk 20 years after breast cancer diagnosis was 40% for BRCA 1, and 26% for BRCA 2
- The risk increased with the number of first and second degree relatives diagnosed with having breast cancer for BRCA 1 & 2
- The breast cancer risk was higher if mutations were located in certain positions of the gene
So when was peak incidence?
PEAK INCIDENCE WAS IN THE 41 – 50 YEAR AGE GROUP for BRCA 1
PEAK INCIDENCE WAS IN THE 51- 60 YEAR OLD AGE GROUP FOR BRCA 2.
Two fabulous articles on this are the original JAMA article HERE, and a great blog on breastcancer.org HERE.
My thoughts?
With so much genetic testing, we are finding predispositions to cancers like this all the time. I think it is great to know what is on the horizon for you so you can make life decisions: have babies earlier, don’t miss screening mammograms, do prophylactic surgery. As difficult as it is (oh to be blithely ignorant!), knowing is better. These cancers can be aggressive, triple negative, and early. Avoiding or early treatment are key.