Acknowledging Genetic Counsellors
According to a study, women who carry the BRCA1 gene mutation, that is responsible for breast and ovarian cancers, are at a higher risk for the deadly form of uterine cancer.
Since a conclusive link between the Breast Cancer gene mutation and a significant risk of developing uterine cancer has been found, doctors have changed the approach of the treatment which is more like proactive. The process is similar to removing both the breasts after breast cancer.
But conflicting evidence has created controversy over the need to remove the uterus. Smaller studies identified a link between the Breast Cancer gene mutation and uterine cancer, but the evidence to change practise has hinged on results from a well-designed study using a larger patient population from multiple sites.
Doctors say that this is the study that was necessary. The study presents the strongest evidence to date that women with this genetic mutation should at least discuss with their doctors the option of having a hysterectomy along with removal of their ovaries and fallopian tubes.
In a current study, analysed data from 1,083 women where all had Breast Cancer (BRCA1 or BRCA2) genetic mutations, had undergone removal of their ovaries and fallopian tubes, and were followed for a median 5.1 years.
Of those eight cancers, however, five were of an uncommon subtype called serous endometrial cancer, which is especially aggressive. All but one of the serous endometrial cancers occurred in women with the BRCA1 genetic mutation (one occurred in a patient with BRCA2 mutation).
Given the incidence of this cancer in the wider population, only about .18 cases would be expected among women with the BRCA1 mutation over the time period analysed, putting these women with the BRCA1 trait at significantly higher risk.
“We were surprised when we saw the data,” Kauff said. “This is an event that should not occur in the over 600 women with BRCA1 mutations in our study. Even if we followed these women for 25 years, you would only expect to see no more than one serous cancer.”
Kauff said the findings are especially important because serous endometrial cancer has a mortality rate of 50 percent and is preventable for women who are already undergoing surgical procedures toremove their ovaries and fallopian tubes.
“Our findings suggest that it may be important for women with BRCA1 mutations to consider removing their uterus at the time they are considering removing their ovaries and fallopian tubes, unless they are hoping to still have children using assisted reproductive methods or have other medical reasons,” Kauff said.
Kauff cautioned that for women with BRCA1 mutations who have already undergone surgeries to remove their ovaries and fallopian tubes, the findings are less clear.
“We need additional studies to address whether a 25-year risk of serous uterine cancer of 2.6 percent to 4.7 percent justifies the costs and potential complications of a second surgery,” Kauff said.
Role of truGeny
trugeny is a telegentic platform of India that provides a complete solution for Genetic Counselling and Testing Services. Our expert counsellor goes through a thorough investigation of you and your family’s medical history. They diagnose the risk of you being susceptible to Breast Cancer or any other Genetic disorder. Based on the counselling report, Testing is advised. Post the testing, the results are again briefed to you for a clear understanding of your health. Further, the experts will also guide you through your future decisions.
Visit www.trugeny.com today to book an appointment today!