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Genetic Cancer Screening: Who Should Pursue it and Why?

Tuesday, May 14 2013

The BRCA 1 or BRCA 2 gene mutations, also known as Breast Cancer Susceptibility Genes 1 and 2: what are they, and if you have one of these genes, what does it mean? According to Solange Pendas, MD, of Lakeland Regional Cancer Center, these gene mutations are hereditary, rare and carried by only 5 percent of all breast cancer patients. Although uncommon, when referring to lives – 5 percent is significant. Those who are at-risk should consider testing. Individuals who test positive for the gene mutation have up to an 87 percent risk of developing breast cancer by the age of 70, and up to 40 percent for developing ovarian cancer. Men with these gene mutations have an increased risk of developing other types of cancers.
A blood sample is required for the testing process, and receiving genetic counseling is important prior to and after. Genetic testing for these mutations can be done at cancer treatment centers throughout the world, including Lakeland Regional Cancer Center. Because these mutations are rare and the test costly (approximately $4,000), it is only recommended for individuals considered highly at-risk. BRCA1 and BRCA2 testing is not recommended as a screening tool for the general population. Dr. Pendas says at-risk individuals, whose testing is often covered by insurance, include those who have:

- Been diagnosed with pre-menopausal breast cancer (or before the age of 50)
- Two or more ‘first degree’ relatives who have been diagnosed with breast or ovarian cancers (i.e., mother and sister)
- Been diagnosed with breast and ovarian cancer regardless of their ages
- Been diagnosed with bilateral breast cancer

If you think you are at-risk for these gene mutations and would like to learn more from Dr. Pendas, call (863) 603-6565 or toll-free at 1-866-823-4405.

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