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Angelina Did It, So Should You? What to Know About the Breast Cancer Gene Mutation

Kudos to Angelina Jolie for bringing this topic into the forefront, as well as showing us that our breasts alone don’t define what makes us sexy, feminine and beautiful!

But if you don’t have a family member who has had breast or ovarian cancer, chances are that you probably don’t have this mutation. Some studies estimate the frequency of the BRCA1 mutation in the general population is about 1 in 1500 women. In fact this gene mutation only accounts for about 5-10% of all the breast cancer cases and only 10-15% of all ovarian cancer cases in US. All the rest of the cases that occur are due to sporadic occurrences.

BRCA1 and BRCA2 are human genes that are called suppressor genes because they actually repair DNA and suppress cancer. Mutations in these genes are linked to a hereditary form of breast and ovarian cancer. There are other gene mutations linked to breast and ovarian cancer but the majority of hereditary cases are because of BRCA1 and 2.

According to the American Cancer Society in general only 12-14% of population overall has a lifetime risk of getting breast or ovarian cancer compared to over 40-60% for those who carry the gene mutations.

So who is at increased risk having this gene mutation? It is commonly seen in people of Ashkenazi Jewish descent. Those who have two first-degree relatives, such as a mother, sister or daughter diagnosed with breast cancer before age 50. If you have three second-degree relatives (i.e. an aunt or grandmother) at any age or those with a combination of first and second-degree relatives who have had breast and ovarian cancer, you are more at the risk for having this mutation. Also those who might have 2 or more relatives with ovarian cancer, a male relative with breast cancer, or a first-degree relative with bilateral breast cancer, meaning in both breasts are more at risk of carrying these mutations. If you are at risk you should talk with your doctor about getting tested for it.

What to do if you do test positive? There are options you can consider if you do test positive. You could opt for increased and vigilant screening or surveillance. Every 6 months you can have clinical breast exams performed by your doctor with yearly mammograms and MRI, also bi-annual pelvic exams with vaginal ultrasound for look closely at your ovaries, as well as a blood test called CA-125 antigen, which can be elevated, in ovarian cancer.

Chemoprevention is a term used for estrogen-blocking drugs such as tamoxifen and raloxifene, which in some studies reduced breast cancer by 50%, however not a lot of studies have been done using these drugs in people with these mutations?

Of course for those who watched their loved ones suffer with this genetic form of breast and ovarian cancer it is easy to see why Angelina Jolie underwent drastic prophylactic preventive surgery of bilateral mastectomies, which can reduce the risk by 90%. Also once you finished having your children then removing both your ovaries and fallopian tubes can reduce your risk of ovarian cancer by 90% too. It's important to note it doesn’t completely eliminate your risk down to zero. Just like with surgery for cancer, you cannot get every single cell out, any tissue left behind does have the potential to become cancerous, however the odds are now in your favor!

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© Dr. Leigh Vinocur, 2022.