Mutations may sound scary or something out of a comic book, but they are more common than you think. According to the American Association for the Advancement of Science, one in five healthy adults may carry a disease-related genetic mutation. While many mutations aren’t harmful, some are linked to various forms of cancer, including ovarian cancer.
A mutation is a change in the genetic material of an organism. Each of our trillions of cells have a nucleus composed of DNA which acts as a set of instructions for the cell. Our cells naturally copy themselves, but sometimes it doesn’t make an exact match. This is a mutation. Mutations are largely due to natural radiation that bombards our DNA every day. Once this mutation occurs, it permanently changes our DNA and is copied further inside our bodies.
Mutations are actually how organisms evolve and can be very beneficial to the diversity of a species. However, that is not always the case. Some mutations, such as BRCA 1 and BRCA 2, can cause a predisposition for ovarian cancer.
If you test positive for the mutation, it doesn’t mean that you have or even will have cancer.
Ovarian cancer affects one or both ovaries and is typically noticed later in life. While ovarian cancer isn’t the most common among women, it is the number one cause of deaths related to their reproductive system. It can develop on the surface of the ovary or from tissue inside the ovary.
There are three main types of ovarian cancer: epithelial, germ cell and stromal cell. Epithelial ovarian cancer is by far the most common. Roughly 90% of ovarian cancer occurrences are epithelial tumors.
An estimated 15% of ovarian cancer diagnosis are linked to hereditary factors passed down through family genes. The vast majority of hereditary breast and ovarian cancers are caused by BRCA1 and BRCA2 mutations.
The BRCA1 and BRCA2 genes are responsible for suppressing tumors in the body. They keep cells from growing too rapidly. If these cells don’t work properly, it can cause cancerous tumors to form.
BRCA mutations can be inherited from either parent and the carrier of that mutation has a lifetime cancer risk between 10%-60%. These mutations also increase the risk of fallopian tube, peritoneum, pancreas and skin cancers. Men with a BRCA mutation have increased risk of cancer as well.
The best way to identify risk is to do genetic counseling and testing. Using a sample of blood or saliva, genetic testing examines your DNA identifying any disease or illness related mutations. A genetic counselor is a physician who specializes in inherited types of cancer and can guide you through the testing and explain the results.
If you test positive for the mutation, it doesn’t mean that you have or even will have cancer. It simply means that the risk is higher than those who test negative. Speak to your OB-GYN to discuss prevention options. While there are no recommended screening tests for average risk patients testing for ovarian cancer, there are medications and surgical options that can help reduce risk.
Scientist and physicians are identifying new ways to prevent and eradicate cancer every day. Until that day comes when there is a certifiable cure, we can only do our best to seek out warning signs and develop prevention plans. If you have any questions or concerns about ovarian cancer or need health advice, talk to your OB-GYN.
Choosing a healthcare professional is an important decision. Christopher K. Quinsey MD, P.A. has been serving women in the northern Orlando area for over 21 years. If you are interested in a consultation, contact us today.
*This blog is for general informational purposes only. Christopher K. Quinsey MD, P.A. does not distribute medical advice through this blog. As such, this blog does not constitute a patient-client relationship between the reader and Christopher K. Quinsey MD, P.A.