An interesting paper recently presented at the 11th European Breast Cancer Conference in Barcelona, Spain stratifies the risk of death based on the type of BRCA gene mutation. Healthy women who are carriers of breast cancer-causing mutation in the BRCA1 gene and undergo the bilateral mastectomy, not only reduce their risk of developing breast cancer but also their chances of dying.
But, this is not the case with women who are carriers of the BRCA2 gene mutation, in whom the risk of dying was not reduced if women had the bilateral risk-reducing mastectomy (BRRM) or chose to have a close surveillance.
This is the first prospective study of healthy women with BRCA1 gene mutation (1696 women) or BRCA2 mutation (1139 women) who either chose to undergo BRRM or close surveillance, to compare their overall risk of dying from any cause and their risk of dying from breast cancer.
The women were recruited from the National Hereditary Breast and Ovarian Cancer Netherlands (HEBON) database and did not have any previous history of cancer. They also have not undergone breast or ovaries removal at the time of DNA diagnosis of BRCA1 or BRCA2 gene mutation.
The average follow-up in both the mutation types was between 9 to 11 years. In BRCA1 group, women who had undergone BRRM had considerable more chances of overall survival (90%) and breast cancer-specific survival (99.6%) compared to surveillance group where the overall survival was 83% and breast cancer-specific survival was 93%.
In the BRCA2 group, the overall survival and breast cancer specific survival did not differ much among both the groups.
Dr. Annette Heemskerk-Gerritsen, a post-doctoral researcher at the Erasmus University Medical Centre Rotterdam, The Netherlands said at the conference, “the difference in the chances of dying from breast cancer between BRCA1 and BRCA2 gene mutation carriers supports the idea that these two mutations result in different types of tumors.”
“We observed that BRCA2-associated breast cancers were diagnosed with more favorable characteristics than BRCA1-associated breast cancers. BRCA2-associated cancers were diagnosed at an older age, better differentiated, and were more likely to have receptors for the hormones estrogen and progesterone and for the human epidermal growth factor (HER2), suggesting that BRCA2 mutation carriers face a better prognosis at diagnosis than BRCA1 mutation carriers,” She further added.
The results of the study mean that women with BRCA2 gene mutation can choose between BRRM or surveillance knowing that it makes little difference to whether or not they will die from breast cancer.
However, they will still be at increased risk of developing the disease, and the treatment for it can be unpleasant and carries its own risks.
These findings are important because they help in individualized counseling regarding the difficult choice women with BRCA mutation face between BRRM and surveillance.
Many of the women want to retain their breast and they are willing to face the risk of developing breast cancer and undergoing essential treatment after diagnosis. Knowing the type of mutation, they carry, they may find some relief in knowing that ongoing intensive surveillance may be as good as BRRM when it comes to breast cancer-specific survival if they have BRCA2 mutation.
Conference news release
Media: breast360.org
Great article... This blog share very important health condition like BRCA1 and BRCA2 mutation. Thanks for sharing very informative blog post.
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