A few months ago in The New York Times, actress Angelina Jolie shared her story about testing positive for a faulty gene that increases the risk of breast cancer. She said she went public with her decision to have a preventive double mastectomy, “because there are so many women who do not know they might be living under the shadow of cancer.”
The “shadow” she refers to is an inherited genetic mutation that affects specific genes, identified as BRCA1 and BRCA2. In Angelina’s case, her mother had breast cancer and died of ovarian cancer: a significant clue that Angelina might carry the mutation. Since the children of a mother or father with a BRCA mutation have a 50 percent chance of inheriting it, the actress chose to be tested.
For many women, the media coverage likely raised more questions than answers: Should I find out if I have the BRCA gene mutation? What does increased risk really mean? What can I do if I have the mutation?
Fortunately, Virginia Mason helps women answer these questions through the expertise of hereditary cancer risk consultant Cathy Goetsch, ARNP. Providing cancer genetics services for more than 17 years, Cathy is uniquely qualified to assess women’s personal risk of cancer and determine if genetic testing is appropriate for them.Cathy, who sees patients referred from all over the region for her specialized services, looks at a number of factors that not only clarify if a patient should pursue genetic testing, but also help ensure testing is covered by a patient’s insurance plan, if they have one. Criteria vary based on individual history, but can include:
- A known BRCA mutation in the family
- Two or more same-side family members with breast cancer, or a member with breast cancer before age 45
- First degree relative with ovarian cancer
- Male family member with breast cancer
“Ideally we want to first test a family member who has breast or ovarian cancer to confirm their cancer is actually caused by a BRCA mutation,” says Cathy. “Then we know that if the patient without cancer tests negative for the mutation, they have no higher risk than the general population. But if they are the first tested and are negative for a specific BRCA mutation, despite cancer in the family, that doesn’t eliminate the possibility they are at higher risk for another reason.”
It’s the gray areas – such as whether a BRCA mutation or some other inherited risk may be affecting a family – that make Cathy’s role so important. Then there’s evaluating the risk itself. Studies show women with a BRCA mutation face a 40 to 87 percent lifetime risk for breast cancer, and an 11 to 54 percent risk of ovarian cancer. But Cathy will tell patients it’s not as simple as that.
“More recent studies, using broader patient populations, are showing the lifetime risk may not be as high as once thought,” Cathy says. “And what those statistics don’t tell you is that better technology for breast cancer detection means the majority of these cancers, if they happen, are caught early at a very treatable stage.”
An important distinction Cathy makes for her patients is she is there to help them manage their cancer risk, not take it away. Part of that distinction is educating women who are considered high risk about their treatment options. There is close surveillance, which consists of a prescribed schedule of exams and advanced imaging to monitor for the disease. Chemoprevention, which involves a drug regimen that fights cancer by manipulating hormones, is proven to reduce cancer risk in certain patients. Finally, preventive mastectomy, the surgery undergone for Angelina Jolie, is shown to reduce the risk of breast cancer by about 90 percent (even with the surgery, a woman’s risk is never completely gone).
While mastectomy can be an appropriate choice for a BRCA-positive woman, it may not eliminate her need for further treatment, particularly if early cancer already exists. Drug therapy, chemotherapy and radiation can still be needed following surgery, or in the future.
For some women, 90 percent reduction is a number that works and is worth the effort, while others are encouraged to learn that having a BRCA mutation does not mean a 100 percent chance of getting breast cancer, so they don’t rush into surgery.
“Many people feel reassured by genetic counseling and subsequent testing because they are empowered by the knowledge,” says Cathy. “They are having it done for their kids or other loved ones, and they learn there are things they can do to manage their risk – the choice is up to them.”
To learn more about hereditary cancer risk, call Cathy at (206) 223-6193 or visit the Hereditary Cancer Risk Assessment Web page.