For years, patients with a family history of developing cancer have been relying on genetic testing methods in order to assess their risk and their family’s risk of contracting the disease. However, with this testing, there are several myths surrounding the BRCA gene, which produces tumor suppressing proteins, and who should get tested.
BRCA1 and BRCA2 help repair damaged DNA, which in turn helps ensure the strength and stability of the cell’s genetic material. If either of these genes are mutated, the proteins within the gene either don’t function property or are not made at all.
According to the National Cancer Institute, specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancer, and have also been associated with increased risks with several other types of cancers.
Together, mutations in BRCA1 and BRCA2 make up about 20 t0 25 percent of hereditary breast cancer and about 5 to 10 percent of all breast cancers.
Heather Sulzbach, an oncology Nurse Practitioner at NYU Arena Oncology, says the most common BRCA myth is people think they only have to get tested for the gene mutation if their family has a history of cancer.
“The fact is family history, age, and diagnosis are poor predictors of whether or not you have this BRCA mutation in ovarian cancer. We’d actually miss many pieces of this BRCA mutation if we based it just on age and family history,” said Sulzbach. “Forty-seven percent, so that’s almost half, of BRCA positive ovarian cancer patients have no significant history of ovarian or breast cancer. So basically anyone with a history of ovarian cancer, regardless of the age should be tested for this mutation.”
Sulzbach says BRCA1 or BRCA2 can be inherited from a person’s mother or father, and each child of a parent who is a carrier has a 50 percent chance of inheriting the mutation.
While about 12 percent of women in the general population will develop breast cancer at some point in their lives, the most recent estimates claim 55 to 65 percent of women who inherit a mutation in either BRCA gene will develop breast cancer by age 70.
By contrast, about 1.3 percent of women in the general population will develop ovarian cancer, while 39 percent of woman with a BRCA1 mutation and 11 to 17 percent of women with a BRCA2 mutation will develop ovarian cancer by the age of 70.
Mutations in either BRCA gene increases the risk of several other types of cancers in both men and women. Women with a BCRA1 mutation may be at greater risk of getting fallopian tube cancer and peritoneal cancer.
Men with BRCA2 mutations have an increased risk of developing breast cancer, and run a higher risk of getting prostate cancer if they have harmful mutations in either BRCA1 or BRCA2.
Men and women with mutations in either gene are at an increased risk of developing pancreatic cancer.
Even certain racial and ethnic populations are at a greater risk of inheriting BRCA gene mutations. People of Ashkanazi Jewish decent, Norwegian, Dutch, and Icelandic people are more likely to inherit the mutated genes.
The prevalence of gene mutations may vary among different racial and ethnic groups in the United States, such as African Americans, Hispanics, Asian Americans, and non-hispanic whites.
However, if genetic testing reveals a positive result for BRCA1 or BRCA2 mutations, Sulzbach says there are numerous options to consider when managing cancer risk. She used actress Angelina Jolie as an example. Jolie lost her mother to ovarian cancer, and tested positive for BRCA1 gene mutation. In 2013, she had a double mastectomy to minimize her risk of developing breast cancer. Two years later, she underwent an operation to remove her ovaries after an ovarian cancer scare.
“[Jolie] shared with us what her choices were. She brought a lot of dialogue, she increased a lot of awareness and she did have risk reducing surgeries,” Sulzbach said. “But that doesn’t mean we are leaping to surgeries or anything radical. It just means we can increase surveillance.”
Sulzbach went on to say ovarian cancer is much more difficult to diagnose and detect because symptoms are so vague. Despite the options and choices you may have to face, Sulzbach says it is always important to consult with your physician and know your body to manage your cancer risk.
“The options can be medical, they can be surgical,” said Sulzbach. “But know your body, have a good relationship with your physician and really speak to them about getting tested, and know [about] BRCA mutations.”