High-risk women left out of mammogram debate
By Karen Greco, PhD, RN, ANP-BC
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Ashkenazi Jewish women, have a higher chance of having a high risk for breast cancer. One in 40 Ashkenazi Jewish women (those having an Eastern European background) carry a mutation associated with hereditary breast and ovarian cancer, which is five to 12 times higher than non Jewish women. What are women at high risk for breast cancer supposed to do about breast cancer screening if the experts can’t agree on when women with a normal breast cancer risk should get a mammogram?
After promoting mammography starting at age 40 since 2002, the United States Preventive Services Task Force recently released new guidelines saying that women can wait until age 50 to start having routine mammograms and that they only need them every two years. These recommendations have caused an avalanche of responses disagreeing with the guidelines.
According to a USA TODAY Gallup Poll conducted after the new guidelines were released, three quarters of women disagreed or strongly disagreed with the new USPSTF recommendations that women begin routine mammograms at age 50 instead of 40. The survey also found that most women ages 35 to 49 plan to get a mammogram before age 50 despite the panel’s advice.
To add to the confusion, in early 2010, the Society of Breast Imaging and the American College of Radiology issued new mammogram guidelines recommending women begin routine screenings at age 40.
In spite of weeks of media coverage of the mammography controversy, high-risk women have been left in the dark because the USPSTF guidelines apply only to average-risk women. They didn’t publish breast cancer screening guidelines for high-risk women. In 2005, however the USPSTF published recommendations for family cancer history patterns that identify women who need to have genetic risk assessment to determine if they may carry a gene that puts them high risk for breast and ovarian cancer.
What increases breast cancer risk?
A woman’s risk increases with age. Women age 55 and older account for more than 65 percent of all breast cancers.
Having one first-degree relative diagnosed with breast cancer doubles a woman’s risk. First-degree relatives include: mothers, fathers, brothers, sisters, sons and daughters.
Breast cancer risk can quadruple if two or more first-degree relatives have the disease.
Women have a high risk if they carry a gene mutation associated with hereditary breast cancer. About 2 percent of Ashkenazi Jews without a family history of cancer carry such a mutation.
Other factors associated with increased risk include: a biopsy showing certain types of abnormal breast cells, radiation therapy to the chest, early menses or late menopause, being very overweight after menopause, alcohol consumption and lack of exercise (www.cancer.gov).
Hereditary Breast Cancer
About 7 percent of breast cancers are thought to be caused by hereditary factors. The majority of hereditary breast cancer is thought to be related to mutations in two genes, BRCA1 and BRCA2. Everyone has two copies of these genes, one from each parent. Normal BRCA genes help prevent cancer tumors from forming, however, a mutated gene no longer functions correctly.
BRCA1 stands for “breast cancer one” because it was the first gene associated with hereditary breast cancer to be identified; BRCA2 was the second.
The BRCA1 and BRCA2 genes are autosomal dominant so one copy of a gene mutation is enough to cause a high risk for breast cancer. A woman or man with either gene mutation has a 50 percent chance of passing it on to each of their children. Women who carry one of these mutations can have a 56 to 87 percent lifetime breast cancer risk compared to 12 percent in the general population. They also have a about a 28-44 percent risk of ovarian cancer compared to 1-2 percent in the general population. A BRCA2 mutation is associated with a higher risk for pancreatic cancer in both men and women.
Ethnicity affects a person’s risk for hereditary breast cancer. Ashkenazi Jews are at a higher risk for carrying a BRCA mutation. Genetic testing can be done to determine if a person carries a BRCA1 or BRCA2 gene mutation. Although there are hundreds of different BRCA1 and BRCA2 mutations associated with hereditary breast cancer, in Ashkenazi Jews just three mutations account for about 80 percent of the BRCA mutations found.
Women who have any of the risk factors for hereditary breast cancer should follow-up with their health care provider and ask for a genetic risk assessment.
Guidelines for High Risk Women
Women at high risk for breast cancer need more intensive breast cancer screening. The question is what screening tests should they have and whose guidelines should they follow? The American Cancer Society and the National Comprehensive Cancer Network both recommend women with a high risk have annual mammography, annual breast magnetic resonance imaging, and a clinical breast exam every 6 to 12 months starting as early as age 25 with no upper age limit.
Women also need to practice breast awareness. Breast awareness means being aware of how your breasts and nipples look and feel normally, paying attention to any changes that occur, and having changes evaluated by a health care provider. Breast changes to watch for and have evaluated include: a change in size or shape of breasts, a lump or firmness in breast or under your arm, the skin on your breast or nipple becomes scaly, red, or swollen, a nipple facing inward or feeling tender, or abnormal fluid coming from a nipple.
What Should Women at High Risk for Breast Cancer Do?
If you think you are at high risk, talk to your health care provider and ask for a breast cancer risk assessment. You may need a referral to a genetics professional (see box above).
Know your family cancer history, and communicate this information to your health care provider. The U.S. Surgeon General’s Family History has resources to help you collect a family health history and create a diagram or pedigree.
Discuss with your health care provider what breast cancer screening tests you need and how often.
Practice good health habits: exercise, eat a well balanced diet high in fruits and vegetables, maintain a normal weight and drink alcohol only in moderation.
Practice breast awareness and report any changes to your health care provider.
Karen Greco, PhD, RN, ANP_BC is a nurse practitioner and nurse investigator who conducts research related to breast and colorectal cancer screening. Her research affiliation is with the University of Arizona College of Nursing, where she is principal investigator for the Colorectal Cancer and Decision Making Study. She is president of the International Society of Nurses in Genetics. She is also a contractor for the Genetics Branch of the National Cancer Institute.
