Gene testing helpful in assessing cancer risks

The recent news of Angelina Jolie’s decision to undergo removal of both breasts (bilateral mastectomy) to prevent cancer due to a mutation in BRCA genes has increased everyone’s awareness of hereditary cancer of the breast or ovary.


BRCA1 and BRCA2 are genes that are helpful in the prevention of certain cancers. A mutation or change in these genes can increase an individual’s risk of breast and ovarian cancers. Seven percent of all breast cancers and almost 15 percent of all ovarian cancers are caused by these BRCA1 or BRCA2 gene mutations.


Washington Health System’s Malay Sheth, OB/GYN, explains, “BRCA testing is a genetic test that evaluates the BRCA1 and BRCA2 genes. The test checks if the sequence or code of these genes is correct. A change in the code is considered a mutation, and a mutation is considered a positive result.”


Women who test positive have up to an 87 percent risk of having breast cancer and a 44 percent risk of having ovarian cancer at some point during their lifetime. The test is easily performed and painless since it only requires a saliva sample.


Not everyone is a candidate or needs BRCA testing. A physician can help determine if it is necessary to consider testing. Insurance will generally cover a large portion of the cost of testing if certain criteria are met. It is important to make sure that all of these criteria are met before being tested. The cost of the test may approach $3,000 to $4,000 if not covered by the insurance provider.


You may be a candidate for testing if you meet any of the following criteria:


• You or someone in your family history were diagnosed with breast cancer before age 50


• You or a family member were diagnosed with ovarian cancer at any age


• You have a male family member with breast cancer


• You have Ashkenazi Jewish ancestry and a personal or family history of breast or ovarian cancer at any age


• You or your family have had two or more breast cancers


• You have had breast cancer in both breasts or more than one within the same breast


• You have someone else in your family with a known positive BRCA testing


A woman should not be tested before the age of 25 since BRCA mutations have not been associated with childhood cancers. Also, if an individual tests positive for the BRCA mutation, additional testing, such as earlier mammograms, is not recommended until after age 25.


“If a woman tests negative for the BRCA mutation – meaning the test is normal – she should still continue to perform self breast exams, yearly breast exams with her physician and mammograms yearly after the age of 40,” said Sheth. “If there is a family history of breast or ovarian cancer, women who are BRCA negative may still require greater surveillance as recommended by their healthcare provider.”


“If the BRCA test comes back abnormal, clinical breast exams should be completed twice a year beginning at the age of 25 to assure that if breast cancer were to develop, the early detection of it would be possible,” Sheth said.


For some women who test positive, their physician may also recommend that they have yearly mammograms and/or MRI (magnetic resonance imaging) of the breast (also starting at age 25). If tested positive for ovarian cancer, women should have an ultrasound of the ovaries and blood work twice a year starting at age 35.


Also, there are medications that may reduce the risk of breast cancer in high risk patients. Birth control pills (oral contraceptives) can significantly reduce the risk of ovarian cancer.


For women who have completed child bearing, bilateral mastectomy may be considered. Bilateral mastectomy is the removal of both breasts. At the timing of this surgery, breast reconstruction performed by plastic surgeons is also an option. Before proceeding with this route, patients should discuss it with their health-care providers and a genetic counselor. Breast cancer screening is still fairly reliable and cancers that can be detected early are usually treatable.


However, ovarian cancer screening is not as reliable, and most often ovarian cancers are detected at a later stage. Thus, they are less likely to be curable. In individuals with abnormal results, preventative removal of the ovaries is often recommended after the completion of child bearing and preferably by the age of 40.


Sheth recommends women talk to their health-care provider to determine if they are a candidate for BRCA testing. Regardless, he notes, it is important to have a gynecologic exam consisting of a breast exam and pelvic exam yearly


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