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Women who carry genetic mutations that put them at higher than average risk of
developing breast cancer may need to be screened for the disease more than once a year,
according to a new study. Researchers found that women who carry BRCA1 (breast cancer gene 1) or BRCA2 (breast cancer gene 2) mutations were likely to
develop breast cancer during the time between their yearly mammogram
screenings. The study suggests that more frequent screening and additional tests with ultrasound and/or magnetic resonance
imaging (MRI) may be necessary for these women.
BRCA1 and BRCA2 are two tumor suppressor genes that, when functioning normally, help
repair damage to DNA (a process that also prevents tumor development). Ten years ago,
researchers discovered that women who carry mutations of BRCA1 or BRCA2 are at higher risk
of developing both breast and ovarian cancer than women who do not have these genetic
mutations. Currently, women with BRCA1 mutations account for 5% of all breast cancer
cases. The Mayo Clinic estimates that 20% of women who carry BRCA1 mutations will develop
breast cancer by age 40, 51% by age 50, and 87% by age 60.
The American Cancer Society’s breast cancer screening guidelines recommend that
all women 40 years of age and older receive mammograms once per year, in addition to physical breast exams and monthly breast self-exams. Currently, there are no standard breast cancer
screening guidelines for women with BRCA mutations.
To study this issue, Ian K. Komenaka, MD and colleagues from the Columbia-Presbyterian
Medical Center in New York reviewed the medical charts of all BRCA mutation carriers who
were followed by the genetic counselor at the Columbia-Presbyterian Comprehensive Breast
Center between September 1995 and September 2002. Thirteen of these women (ages aged 32 to
59) decided to undergo intensive breast cancer screening.
Among these 13 women, the researchers found that six developed breast cancer in between
their annual mammograms. The average time to develop breast cancer was five months after
annual screening. In addition, four out of the six women were diagnosed with invasive
breast cancer, which had already spread to the nearby axillary (armpit) lymph nodes in
three cases.
Based on these findings, Dr. Komenaka and his team recommend that women with BRCA gene
mutations undergo breast cancer screening more frequently than once a year. Nearly half of
the women diagnosed with breast cancer were found to have dense breast cancer, which can
make breast cancers more difficult to detect by mammography. Thus, the researchers
recommend the use of additional techniques, such as ultrasound or magnetic resonance
imaging (MRI), on these women, in conjunction with mammography.
Genetic testing is available for eligible women to determine whether they carry BRCA
gene mutations. Typically, these women with:
- Breast cancer in two or more close relatives, such as a mother and two sisters
- Early onset of breast cancer in family members, often before age fifty
- A history of breast cancer in more than one generation
- Cancer in both breasts in one or more family members
- Frequent occurrence of ovarian cancer
- Eastern and Central European (Ashkenazi) Jewish ancestry, with a family history of
breast and/or ovarian
Not every woman with a BRCA gene mutation develops breast cancer, but the risk for the
disease is significantly higher for these women.
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