“If I could do it again, I don’t think I’d change what I’ve done. But there’s definitely a sense of melancholy that this is what it came to — that this is what I had to do,” Schlager says. She hopes for better options for her 16-year-old daughter.
For most women, the lifetime risk of breast cancer is about 12 percent if you live to be 90. But for Schlager — who discovered in 1999, at age 32, that she carries the BRCA1 genetic mutation — the risk was four to five times higher prior to her bilateral mastectomy.
Women at above-average risk for breast cancer may need to consider earlier or additional screening than women at average risk — or even medication or surgery to lower their risk.
The tricky part is that “high risk” is not black and white, nor are screening guidelines clear cut for women at elevated cancer risk.
What Is High Risk?
“There’s not one definition of ‘high risk,’” acknowledges Judy Garber, MD, chair of the Breast Cancer Research Foundation’s scientific advisory board and director of the Center for Cancer Genetics and Prevention at Dana-Farber Cancer Institute in Boston.
“I’m afraid the field has not come to the place where they can say ‘okay, here is the cut-off for medium. Here is the cut-off for high,'” Dr. Garber says.
What some professionals can agree on is that if your lifetime risk of breast cancer exceeds 20 percent, you are considered high risk because you are eligible for annual screening with magnetic resonance imaging (MRI).
Personal vs. Hereditary Risk Factors
To further break it down, “high risk” includes two sets of factors — personal and hereditary — explains Beth Peshkin, professor of oncology and senior genetic counselor at Georgetown University Lombardi Comprehensive Cancer Center in Washington, D.C.
Personal risk factors can include:
- Getting your period early in life
- High breast density as found on a mammogram
- Giving birth after age 35 or not at all
- Having a precancerous breast condition
- Going through menopause after age 55
- Taking hormone replacement therapy
- Age over 50
Hereditary risk factors include a family history of cancers that are known to have hereditary components, like breast and ovarian cancer, or other clusters of cancers in the family that can suggest a hereditary risk, Peshkin says.
It should be noted that personal factors generally confer a much lower risk of cancer than hereditary factors. Having a mother who has or had breast cancer, for example, can double one’s risk, Garber says.
The American Cancer Society (ACS) has a more exhaustive list of risk factors for breast cancer on its website.
Of all breast cancer cases, 5 to 10 percent are likely to be hereditary, according to the ACS.
Mutations to the BRCA1 and BRCA2 genes account for the majority of hereditary breast cancers. People with BRCA1 mutations have an average risk of developing breast cancer of about 55 to 65 percent, but that may be as high as 80 percent. Those who carry BRCA2 mutations have a lower lifetime risk of breast cancer of about 45 percent. These mutations also present an increased risk of developing other cancers, especially of the ovaries.
There are also other gene mutations that can increase your risk of breast cancer.
Determining Your Risk of Breast Cancer
While knowing your risk is important, experts say, having an increased risk may not necessarily translate to being high risk.
“Not all women who have risk factors that place them at increased risk for breast cancer have a risk that’s high enough to warrant a recommendation for aggressive screening or risk-reduction measures,” Peshkin says.
To find out your risk level, consider reviewing your personal and family history with a healthcare provider, Peshkin advises.
Another option is to use an online risk assessment instrument such as the National Cancer Institute’s Breast Cancer Risk Assessment Tool, which gauges your risk, Garber suggests.
If you suspect you have a hereditary risk, then consider seeking genetic counseling with a credentialed provider who can review testing options in detail, Peshkin says.
Screening for Women at Average Risk
Although screening guidelines for women at average risk vary by organization, they are more similar now than they were in the past, Garber says.
The American Cancer Society advises women ages 45-54 to get mammogramsannually, and women ages 55 and older to get them once every other year, with the option of continuing annual screening. For average-risk women ages 40-44, the ACS recommends offering the option of annual mammograms.
The U.S. Preventive Services Task Force recommends starting regular mammography after a woman turns 50, and then only once every other year.
Screening for Women at Above-Average Risk
For women who have an above-average breast cancer risk but aren’t exactly at high risk — somewhere around 15 to 20 percent lifetime risk, for example — the ACS guidelines note there’s not enough evidence to make a screening recommendation.
It’s women who fall into this “middle ground” of risk that are challenging in terms of recommendations, Garber says.
“We have to walk a fine line, because there’s worry that we’re overdiagnosing women who have cancers that would not be dangerous, and that are very slowly growing,” Garber says. “And you don’t want to overtreat people.” But she acknowledges that some cancers will be missed following these guidelines.
Screening for Women at High Risk
If a woman has a lifetime risk of 20 to 25 percent or higher or a known BRCA1 or BRCA2 mutation, the ACS recommends a more intensive screening regimen, which includes annual MRI scans and mammograms.
But the problem with MRIs is that they’re too sensitive and not specific enough, meaning an MRI can show numerous lesions that are not breast cancer, which can lead to unnecessary biopsies, Garber says. MRIs also require use of a contrast agent — an injected medicine that makes lesions more visible — which may have side effects.
Women at high risk may also have the option of taking medication to lower their risk.Tamoxifen and Evista (raloxifene), for example, are drugs that lower breast cancer risk by at least 50 percent, Garber says.
The most extreme options include preventive surgeries to remove your breasts and possibly ovaries, according to national guidelines.
Right-Time Genetic Testing
A woman who has breast or ovarian cancer or a strong family history of those cancers (on either her mother’s or father’s side of the family) — or other risk factors — may also want to consider formal genetic testing, Peshkin says.
If possible, it’s best to begin testing in a person within a family who has or had cancer, rather than a healthy individual, she adds.
But do not do genetic testing if you are not prepared to act on the results, Garber says.
Genetic tests can provide powerful information, but “If this is just going to be frightening and you can’t use it to take care of yourself, then it’s not the right moment,” she says. Wait until a time when you can take action based on your test results.