BRCA1 BRCA2 Mutations and the Diagnosis of Breast and Ovarian Cancer

I had just hung up the phone after speaking with a dear friend who was recently diagnosed with ovarian cancer. I was about to send her an email when I stumbled across the article (on Yahoo) about Pierce Brosnan’s daughters (Charlotte) recent death from the same disease. I was once again reminded of how important it is for women to be aware of these inheritable tumours and decided to write a series of posts on the topic. Here are some facts you should be aware of so you can reduce your risk of succumbing to this type of cancer.

BRCA1 and BRCA2 are human genes that belong to a class of genes known as tumor suppressors. Hereditary breast and ovarian cancer has been linked to mutation of these genes. If a woman inherits a deleterious or harmful BRCA1 or BRCA2 mutation, her risk of developing breast and/or ovarian cancer is greatly increased. Men may also have these mutations and will have an increased risk of breast cancer. Both men and women who have harmful BRCA1 or BRCA2 mutations may also be at increased risk of other cancers.
A blood sample is required for these genetic tests, and genetic counseling is recommended before and after the tests.
If a harmful BRCA1 or BRCA2 mutation is found, several choices are available to help a person manage their cancer risk.
Many research studies are now underway to discover newer and better ways of detecting, treating, and preventing cancer in BRCA1 and BRCA2 mutation carriers. Additional studies are focused on improving genetic counseling methods and outcomes. Knowledge in these areas is evolving rapidly.
Federal and state laws help ensure the privacy of a person’s genetic information and provide protection against discrimination in health insurance and employment practices.

For more information go to the National Cancer Institute website.