Is Gene Testing for Breast Cancer Reliable?

For a woman, being diagnosed with breast cancer is one of the most traumatic experiences in life. Once the disease is detected the uphill climb of physical exhaustion due to medical treatment and the emotional trauma of going through the side effects of treatment begins.

The earlier breast cancer is detected the better the chances are for complete cure. Therefore, there is constant emphasis on getting routine mammograms and other screening for breast cancer for all women, especially those above the age of 40 and those who have a history of breast cancer in the family.
Breast and ovarian cancer are thought to have strong genetic links. There are also several tests to detect the genes that are linked to both types of cancer. But now these tests have been reported to miss many cases, some of which even on women who have a family history of breast cancer and have developed the disease earlier.

If new research is any indication, Breast Cancergene testing is not as reliable as it was initially thought to be. The genes that are linked to breast cancer are the BRCA1 and BRCA2 genes - Breast Cancer 1 and Breast Cancer 2 genes. The tests for these abnormal genes proved to be negative in some cases where the patient was diagnosed with breast cancer. Questions are being asked whether the test is a reliable indicator. Perhaps it could be that only the particular tests that showed negative, when in fact the patient had breast cancer, were in error.

Some women may carry mutations of the BRCA1 and BRCA2 genes which may result in a false negative test result. These mutations may not be detected by the normal gene testing methods.

The test that is available today for detecting breast cancer genes BRCA1 and BRCA2, is patented by Myriad Genetics. The test is known to miss several alterations or mutations in the genes. Almost twelve percent of the population with a family history of breast cancer may test normal or false negative. If the test comes back normal, but you suspect a high probability of genetic link what is the ideal course of action?

Healthcare professionals advise that if a strong genetic link is suspected, women are to act as though the test is positive even if they tested normal. Regularly follow up with CAT scans and MRI's, and it may be possible to detect breast cancer in the initial stages. "Better safe than sorry" seems to be the guiding principle that must be adopted in the ongoing battle against breast cancer.