Women with a BRCA1 mutation have an increased risk of developing uterine cancer
Women with a specific gene mutation known as the breast cancer gene called BRCA1 are at increased risk of a fatal form of uterine cancer. So far, the gene mutation has only been associated with a significantly increased risk of breast and ovarian cancer.
If women suffer from the BRCA1 gene mutation, they are more likely to develop breast and ovarian cancer later in life. Scientists have now found in an investigation that changes in the gene also increase the risk of a dangerous form of uterine cancer. The doctors published the results of their study in the journal "JAMA Oncology".
BRCA1 significantly increases the risk of breast and ovarian cancer
A so-called BRCA1 gene mutation is known to significantly increase the risk of breast and ovarian cancer. The risk is actually so high that some women with this mutation can have their breasts and ovaries (ovaries) removed as a preventive measure to prevent breast and ovarian cancer, the study authors explain. The latest study is the first to establish a conclusive link between the mutation and a slight increase in the development of aggressive uterine cancer, the scientists say.
BRCA2 mutation also increases the risk of breast and ovarian cancer
The study's authors looked at the data from nearly 1,100 women with BRCA1 or BRCA2 mutations. All participants were from the United States or Great Britain. The doctors observed the health of women for a period of five years. A BRCA2 mutation also increases the risk of breast and ovarian cancer, the experts explain. During the study period, eight participating women were diagnosed with uterine cancer. The rate is somewhat higher, but statistically no different than that of women in the general population.
Accumulation of very aggressive uterine cancer in the test subjects
However, five of these cancers were a rare and very aggressive form of the disease, say the doctors. This is known as endometrial cancer. This cancer of the womb lining has occurred in four out of five cases in women with a BRCA1 mutation. We were surprised when we saw the data, says author Dr. Noah Kauff Head of the Clinical Cancer Genetics Program at the Duke Cancer Institute.
The results of the study were extremely surprising
Even if we had medically monitored women for 25 years, we would expect to see such cancer in the highest of one person, explains author Dr. Kauff. The new results could help physicians and women with a BRCA1 mutation make better decisions about their therapy in the future.
Women with BRCA1 can have their ovaries, fallopian tubes and uterus removed
Our results suggest that it may be important for women with a BRCA1 mutation to have their uterus removed at the same time that their ovaries and fallopian tubes are removed, the experts say. If affected women still have hope of having children through assisted reproductive methods or for other medical reasons, the removal of the uterus should of course be avoided, adds Dr. Kauff added.
Does the increased risk justify a second operation?
However, it is unclear whether another operation to remove the uterus is really useful for women who have already removed breasts, ovaries and fallopian tubes. Dr. Kauff says there is an urgent need for further studies on this subject to determine whether an increased risk of uterine cancer of three to five percent justifies the cost and possible complications of a second operation. (as)