Angelina Jolie elected to have both of her breasts removed in order to reduce her cancer risk, which is an option now available to women with the BRCA1 gene mutation.
Research shows that women with the “Angelina Jolie gene” could be regularly monitored for their breast cancer risk and given a medication to perhaps avoid invasive surgery.
The study indicated that women with hereditary mutations in the BRCA1 gene may be able to use the medicine mifepristone to decrease the cell turnover that puts them at risk for triple-negative breast cancer.
Mifepristone is used for medical abortions, in which pills are administered to terminate the pregnancy, by inhibiting the actions of progesterone.
According to the National Health Service, women with a defective BRCA1 gene have a 65-79 percent lifetime risk of breast cancer and a 36-53 percent lifetime risk of ovarian cancer before the age of 80.
The new study, which was published in Genome Medicine, was supported by the European Research Council and the Eve Appeal, a charity for gynaecological cancer.
During the study, researchers led by Professor Martin Widschwendter at the University of Innsbruck (LFUI) and University College London (UCL) discovered a “signature” of DNA markers (termed DNA methylation) that can identify and aid in monitoring breast cancer risk.
The researchers utilised the WID-Breast29 test on breast tissue samples from women with and without the BRCA gene mutation who were all taking low doses of mifepristone.
All the women who lacked the gene were found to have reduced amounts of progesterone, which is believed to contribute to the development of breast cancer and cell turnover.
Also observed in approximately three-quarters of women with a BRCA gene mutation.
Experts anticipate that mifepristone might be administered to these women with the defective gene to reduce their risk of getting breast cancer and maintain lower progesterone levels.
This means they may be able to delay or potentially prevent a mastectomy.
Currently, women with the BRCA1 gene mutation can choose to have both breasts removed to reduce their cancer risk, as Jolie did.
Enhancement of breast cancer prevention
Prof Widschwendter said: “Progesterone is involved in the development of the most fatal forms of breast cancer.
“In the study released today, we measured progesterone levels on a daily basis throughout the entire menstrual cycle and found that BRCA1 mutation carriers have much greater progesterone levels; this mutation confers a high chance of developing a breast cancer with a bad prognosis.
“Importantly, we demonstrated that medications that neutralise progesterone activity can diminish the cellular alterations responsible for cancer formation in young women’s normal breast tissue.
We are quite thrilled about the potential for enhanced breast cancer prevention that these data suggest.
The Eve Appeal’s chief executive officer, Athena Lamnisos, stated: “Everyone is aware of breast cancer and believes that the disease’s treatment and prognosis have improved dramatically in recent years.
“This is true for some breast cancer diagnoses, but not for the disease’s rarer and more aggressive forms. These new findings could be a game-changer for a diagnosis that is currently devastating.”
