Swayed by the power of celebrity, many women needlessly rushed to get genetic testing for the cancer-causing BRCA mutations right after actress Angelina Jolie announced in May 2013 that she underwent a double mastectomy based on a positive BRCA test, concluded a study in the BMJ last month.
In her article, she detailed her decision to undergo testing for the BRCA1 gene—known to dramatically increase a woman's chance for developing breast and ovarian cancers—and to have a preventive double mastectomy as a result of her identification as a carrier of the disease-fueling genetic mutation.
A positive test result indicates that a person has a harmful change in BRCA1 or BRCA2 (these are typically called “pathogenic” or “likely pathogenic” variants on laboratory test reports) and has an increased risk of developing certain cancers.
On May 14, 2013, actress, filmmaker, and humanitarian Angelina Jolie disclosed in an open editorial (op-ed) to the New York Times entitled “My Medical Choice” that she had learned she was a BRCA1 mutation carrier and had undergone a risk-reducing bilateral mastectomy procedure with reconstruction [1].
Of course, everyone wants to know about my daughters, Beyoncé and Solange, who have tested negative for the BRCA2 variant. I started working with ConnectMyVariant in October 2021 to map my family history and find other relatives who might benefit from genetic testing. My variant is called BRCA2:c. 6591_6592del.
BRCA1 and BRCA2 (BRCA1/2) inherited gene mutations can increase the risk of a second primary breast cancer (a second breast tumor not related to the first one) [38,198-202,649]. These tumors usually occur in the contralateral (opposite) breast rather than in the same breast as the first cancer.
With no intervention, the remaining life expectancy of a 30, 40 and 50 year-old BRCA1 mutation carrier who has never had cancer, is 41.5, 32.7 and 26.1 years, respectively; the remaining life expectancies of BRCA2 mutation carriers of the same ages are 48.6, 39.4 and 30.7 years.
Both men and women can have BRCA mutations and can pass them onto their children.
Bilateral mastectomy has been shown to reduce the risk of breast cancer by at least 95% in women who have a harmful (disease-causing) variant in the BRCA1 gene or the BRCA2 gene and up to 90% in women who have a strong family history of breast cancer (6–9).
In 2013 after finding that she possesses a mutation of the BRCA1 gene that significantly increases her chance of getting breast cancer. Mastectomy means removing a person's breasts by medical operation. Angelina Jolie had a double mastectomy. Both BRCA1 and BRCA2 function as tumour suppressors.
Angelina Jolie revealed that she was diagnosed last year with Bell's palsy, a form of temporary facial paralysis caused by damage or trauma to the facial nerves.
On May 14, 2013, acclaimed actress and philanthropist Angelina Jolie published an op-ed in The New York Times in which she shared her decision to undergo a prophylactic bilateral mastectomy after learning that she had a deleterious BRCA1 mutation.
BRCA1 mutations are seen in about 7% of families with multiple breast cancers and in about 40% of families with ovarian and breast cancer. BRCA2 mutations are found in 20% of families at high risk for ovarian and breast cancers but in less than 3% of women with earlt onset breast cancer.
“Surgery to remove my tubes and ovaries was the best option because on top of the BRCA gene, three women in my family have died from cancer,” she wrote. “My doctors indicated I should have preventive surgery about a decade before the earliest onset of cancer in my female relatives.
"My body reacts very strongly to stress," she said, before revealing: "My blood sugar goes up and down. I suddenly had Bell's palsy six months before my divorce." Bell's palsy is a rare, unexplained episode of facial muscle weakness or paralysis, and it typically resolves on its own within six months.
Positive test result
You might need different screening tests or have screening more often. You also might consider medicines or surgery that can reduce your risk of cancer. Your options depend on many factors. These may include your age, medical history, past treatments and surgeries, and personal preferences.
BRCA2-related prostate cancer is more likely to be associated with features of aggressive disease, including a higher tumor stage and/or higher grade at diagnosis, higher Gleason scores [Gallagher et al 2010], and a higher prostate-specific antigen level at diagnosis [Ibrahim et al 2018].
Only identical twins have the exact same genes. Other family members share some, but not all, of their genes. For example, if your mother has a BRCA1 gene mutation, there's a 50% chance you'll inherit the mutation and a 50% chance you won't. Your mother has two BRCA1 genes, one with a mutation and one with no mutation.
If you have Lynch syndrome or a BRCA1/2 gene mutation, you have a 50% chance of passing it on to each child you have, but you can have your children as normal.
Your genetic counsellor will discuss with you what this means for you and your family and what your risks may be. Myth 3: BRCA mutations can “skip” a generation. Truth: Genetic mutations can't “skip” a generation.
Risk-reducing removal of ovaries and fallopian tubes, (known as risk-reducing salpingo-oophorectomy or RRSO ) is recommended between ages 35-40 for BRCA1 and 40-45 for BRCA2 and upon completion of childbearing.
Most women with a BRCA1 or BRCA2 gene mutation will develop breast cancer at some point. Having a prophylactic mastectomy before the cancer develops might add many years to their lives. But not all women with BRCA1 or BRCA2 mutations develop breast cancer. For some women the surgery might not have been helpful.