Genes contain the hereditary information that is passed from parent to child; they serve as the blueprint for many features. Every person has two copies of a gene called BRCA1 in the cells of her/his body – one inherited from the mother and one from the father. In most people, both BRCA1 gene copies function normally while in other individuals, one gene copy carries a misspelling or alteration.
Women with a strong family history of breast and/or ovarian cancer who have inherited an alteration in the BRCA1 gene have a substantial risk of developing breast and/or ovarian cancer. This often occurs at an unusually early age, for instance, before menopause. Unknown are the cancer risks for an individual carrying this alteration without a strong family history.
Not all women who carry the BRCA1 alteration will develop breast or ovarian cancer; it’s only a contributing factor, not the single cause. Other yet unknown factors, affecting cancer development must be present in addition to having an altered BRCA1 gene. Therefore, people who carry the altered gene are said to have a susceptibility to breast and ovarian cancer.
During your annual visit, your health care provider will screen you for hereditary breast (and ovarian) cancer. They may offer BRCA testing in their office, or refer you to a genetic counselor for further review of your health history, counseling and testing.
Testing can be done by swabbing the interior of the cheek for cells or by a blood test. Results are typically available in 2 weeks.
Insurance coverage for BRCA testing varies so before testing is performed on specimens received, the lab contacts your insurance to determine what amount you may owe. If that amount were greater than $300, you would be alerted prior to testing. The lab offers one year of interest free payments.