Now that there is an increased awareness of genetic testing, I would like to touch on some of the benefits of BRCA testing. The two genes involved in the increased risk for breast and ovarian cancers, BRCA1 and BRCA2, can be tested for a mutation, or an abnormality, that causes the gene not to function.
These genes normally act as tumor suppressors, keeping cells in check and preventing them from developing into cancer. Some may wonder why they should pursue this testing if they have a personal and/or family history suggestive of a BRCA mutation.
Increased screening and medical management options are among the benefits. Starting mammograms at 25, instead of 35 to 40 may catch an abnormality early. Having transvaginal ultrasounds and CA-125 blood testing may find an ovarian cancer before it’s able to metastasize.
Having a preventative mastectomy decreases breast cancer risk by 90 percent and a preventative surgical removal of the ovaries reduces the risk of ovarian cancer by 96 percent.
If a person has already had breast or ovarian cancer, these screenings and prevention options are just as important. There is an increased risk of a second breast cancer or ovarian cancer following breast cancer in people with a BRCA mutation. This information is also helpful for family members, since first degree relatives have a 50 percent chance of inheriting the same mutation. Second degree relatives are not out of the woods either and may also have inherited a mutation.
Also, for all the men out there, you’re not without risk because men have BRCA genes too. Besides increasing your risk for male breast and prostate cancers, these mutations may be passed on to your children.
Being aware of a mutation can help detect cancer early and maybe prevent it from occurring at all. Awareness can bring about empowerment.
If you have a strong personal and/or family history of cancer, speak to your doctor or call me at (772) 223-5945, ext. 1669 for further information.
--Lindsay Mattino, RN, BA
Clinical Research Coordinator and
Genetics Nurse Educator