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Cancer risk estimates for BRCA1 and BRCA2 mutation carriers are important because they impact patient decision-making. Until now, almost all risk estimates for mutation carriers were based on results of retrospective studies that looked back on mutation carriers who had cancer. This new study is prospective—it followed almost 10,000 BRCA mutation carriers without cancer to see if or when they developed breast or ovarian cancer. The cancer risk estimates of this study may be more accurate because it followed mutation carriers who did not have cancer over time. (7/28/17)
Estimating age-specific risk of breast, ovarian and contralateral breast cancer (breast cancer in the other breast of patients who are already diagnosed with breast cancer) for BRCA mutation carriers.
Accurate cancer risk estimates are especially important for
BRCA mutation carriers, because they impact patient medical decision-making. With more accurate cancer risk estimates, health care providers can better advise mutation carriers on when to begin cancer screening or consider risk reduction options.
Previously, most studies that estimated cancer risk for
BRCA mutation carriers were retrospective—they developed estimates by looking back at patients who already had cancer. This new study is important because it included a large number of women and is prospective, meaning that it followed BRCA mutation carriers who did not have cancer forward over time. While prospective studies take a very long time, they can provide better risk estimates for use in patient decision-making.
This study may provide more accurate risk estimates for breast, ovarian and
contralateral breast cancer for BRCA1/2 mutation carriers than previous retrospective studies. Because cancer risk estimates are used to help guide the timing of important decisions, these new estimates may change when BRCA mutation carriers consider screening and risk reduction options. This study suggests that cancer risk estimates should be more personalized, and that they can be more precise with consideration of an individual’s unique family cancer history and where the mutation is located in the gene. Together, these results emphasize the importance of genetic counseling for BRCA mutation carriers.
Medical News Today
Cancer Research UK
For BRCA mutation carriers, accurate, age-specific cancer risk estimates are important because they affect medical decisions and their timing. Virtually all previous cancer risk estimates for
BRCA mutation carriers have been based on retrospective studies. These studies reported breast cancer risk estimates ranging from 40% to 87% for BRCA1 mutation carriers and from 27% to 84% for BRCA2 mutation carriers.
Previous ovarian cancer risk estimates ranged from 16% to 68% for
BRCA1 mutation carriers and from 11% to 30% for BRCA2 mutation carriers. The wide range of estimates was likely due to the way the different studies were designed: how families were selected, different characteristics of individual families, how the data were analyzed, and other genetic and lifestyle factors. Retrospective studies are less likely to produce accurate cancer risk estimates, particularly if an analysis is not adjusted for these factors. On the other hand, prospective studies in which participants are recruited based on their BRCA mutation status and are followed over a long period of time can avoid the limitations associated with retrospective studies. Thus, prospective studies are thought to provide more accurate cancer risk estimates.
prospective studies, the accuracy of cancer risk estimates depends on both the number of people followed and length of follow-up. The more people followed for substantial periods of time, the more accurate the cancer risk estimates. This prospective study was conducted by Karoline Kuchenbaecker, PhD, of the Centre for Cancer Genetic Epidemiology at the University of Cambridge, England and colleagues.
This study only included women with a known
BRCA mutations. Women were recruited to participate in this study through several registries: the International BRCA1/2 Carrier Cohort Study (IBCCS), the Breast Cancer Family Registry (BCRF), and the Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab). The 9,856 study participants were from Europe, Australia, New Zealand, Canada, and the United States. Follow up for all participants was approximately 15 years.
This study had several limitations. Although this study found that cancer risk varied by family history, participants were identified through clinical genetic centers and were more likely to have a family history of cancer. Therefore, the overall cancer risk estimates may not be directly relevant for women who have a
BRCA1 or BRCA2 mutation with no family history of cancer. The results of this study suggest that cancer risks are likely lower for mutation carriers with no family history; however, carriers who have small families, limited knowledge of their families cancer history, few female relatives or female relatives who died young of other causes, or had prophylactic removal of breasts or ovaries should not use these data to assume lower risks. Additionally, because no data (stage, hormone receptor status, etc.) were available on breast and ovarian cancers that developed in study participants, the results represent averages across all tumor types. Furthermore, life time risk estimates were based on a follow-up of 15 years. Actual life time risk may vary for younger participants (i.e. a participant who entered the study at age 30 and was followed to age 45 versus a participant who entered the study at age 60 and was followed to age 75). Finally, this study did not take into consideration the use of chemoprevention strategies (tamoxifen, aromatase inhibitors, etc.) to reduce breast cancer risk or the use of oral contraceptives to reduce ovarian cancer risk.
For women with a
BRCA mutation, the results of this study may provide less biased age-related cancer risk estimates than previous retrospective studies. These results should be used in conjunction with careful genetic counseling and family cancer assessment to guide mutation carriers and their health care providers in clinical decision making. This study demonstrates the importance of knowing your family history and the location of your BRCA mutation because this information may impact individual cancer risk.
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Kuchenbaecker KB, Hopper JL, Barnes DL, et al. “Risks of Breast, Ovarian, and
Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.” Journal of the American Medical Association. 2017;317(23):2402-16. doi:10.1001/jama.2017.7112
Cancer Risk: Breast Cancer
Cancer Risk: Ovarian & Related Cancer
Cancer Risk: Risk for a second breast cancer