The vast majority of cancers occur by chance, but a small percentage are related to inherited genetic abnormalities or mutations. In cases of hereditary breast and/or ovarian cancers, most occur as a result of mutations in either the BRCA1 or BRCA2 genes (this is called “hereditary breast and ovarian cancer syndrome” or “HBOC syndrome”.) These gene mutations can be inherited from your mother or father.
What are the risks associated with the presence of a BRCA gene mutation?
- In women (lifetime risk):
- up to an 87% risk of developing breast cancer
- up to a 44% risk of developing ovarian cancer
- up to a 64% risk of developing a second breast cancer
- In men (lifetime risk):
- up to a 7% risk of developing breast cancer
Who is at an increased risk for having a BRCA gene mutation?
BRCA gene mutations are considered “autosomal dominant,” which means you only need to get the abnormal gene from one parent in order for you to inherit the disease.
- A family member has a previously identified BRCA mutation
- You were diagnosed with breast cancer (at or under the age of 45 years old)
- You were diagnosed with breast cancer (at or under the age of 50 years old) and you have one or more close blood relatives with breast cancer that was diagnosed at or under the age of 50 years old
- You have been diagnosed with two separate breast cancers (one of which was diagnosed when you were under the age of 50 years old)
- You have been diagnosed with breast cancer (at any age) and you have 2 or more close blood relatives with a breast, ovarian or fallopian tube cancer at any age
- You have been diagnosed with breast cancer (at any age) and you have a close male blood relative with breast cancer
- You have a personal history (at any age) of having both breast cancer and ovarian or fallopian tube cancer
- You are of Ashkenazi Jewish ethnicity and have been diagnosed (at any age) with a breast, ovarian or fallopian tube cancer
- You were diagnosed with an ovarian or fallopian tube cancer (at any age)
What can you do if you have a BRCA mutation in managing your risk of breast or ovarian cancer?
- Increased surveillance:
- monthly self breast exams starting between 18-21 years old, and
- annual or semi-annual clinical breast exams starting between 25-35 years old
- annual or semi-annual transvaginal ultrasound and testing for CA-125 (blood test) to screen for ovarian cancer starting between 25-35 years old
- Chemoprevention (taking certain medications may decrease your risk of developing breast and ovarian cancer):
- Drugs such as Tamoxifen may reduce the risk of breast cancer
- Oral contraceptives may reduce the risk of ovarian cancer (by up to 60%)
- Preventive Surgery:
- preventive mastectomy significantly reduces the risk of developing breast cancer (by greater than 90%)
- preventive removal of the ovaries significantly reduces the risk of developing ovarian cancer (by up to 96%)
**Read my article on prophylactic contralateral mastectomies**
What is this test going to cost me?
- The majority of patients who are at increased risk of having a BRCA mutation are covered for testing and paying a copay of less than 10%. Most patients have no out-of-pocket costs for this test. The sticker price for this test is approximately $3,000.
If you test positive for the BRCA mutation can any health care insurance company determine your eligibility or charge you higher rates?
- No. The federal law “HIPAA” prohibits insurance companies from using the results of genetic testing in determining your eligibility for coverage and they can not charge you a higher rate.
How is the test administered?
- You will be asked to swish and spit a solution of mouthwash into a container. This liquid is then sent to the lab and analyzed. (In the liquid are cells from your tongue and cheeks that are able to be tested for the BRCA mutations.) Some physicians will order blood testing instead of saliva.
Testing for BRCA gene mutations (if you are at an increased risk of having the BRCA mutation) before undergoing surgery for breast cancer is highly encouraged:
The reason for this is that your surgeon and cancer care team may recommend preventative mastectomy and/or ovary removal all during the same operation. This has the advantage of sparing patients from having to undergo a second operation later. The typical turn-around time for getting the results back on the BRCA test is between 1-2 weeks, which is quick enough to not cause a significant delay in surgical treatment of the breast cancer.
Additional Resources:
BRCA1 and BRCA2: Cancer Risk and Genetic Testing (U.S. National Cancer Institute)
BRCA Analysis (Myriad Genetics- Patient Information)
BRCA Screening (Susan G. Komen Foundation- Patient Information)
Position Statement on BRCA Genetic Testing for Patients With and Without Breast Cancer (American Society of Breast Surgeons)
Inherited Risk for Breast & Ovarian Cancers (Memorial Sloan-Kettering Cancer Center)
Angelina Jolie’s Disclosure of Preventive Mastectomy Highlights Dilemma (editorial about BRCA testing and prophylactic mastectomy, New York Times, May 15, 2013)
Angelina Jolie Pitt: Diary of a Surgery
(Op-ed article by Angelina Jolie Pitt discussing her decision to undergo a preventative surgery to remove her ovaries and fallopian tubes. New York Times, March 24, 2015.
