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Breast Cancer Screening, Diagnosis, and Monitoring

Whether you’ve never had breast cancer and want to increase your odds of early detection, you’ve recently been diagnosed, or you are in the midst of treatment and follow-up, you know that breast cancer and medical tests go hand in hand.

Most breast-cancer-related tests fall into one or more of the following categories:

  • Screening tests: Screening tests (such as yearly mammograms) are given routinely to people who appear to be healthy and are not suspected of having breast cancer. Their purpose is to find breast cancer early, before any symptoms can develop and the cancer usually is easier to treat.
  • Diagnostic tests: Diagnostic tests (such as biopsy) are given to people who are suspected of having breast cancer, either because of symptoms they may be experiencing or a screening test result. These tests are used to determine whether or not breast cancer is present and, if so, whether or not it has traveled outside the breast. Diagnostic tests also are used to gather more information about the cancer to guide decisions about treatment.
  • Monitoring tests: Once breast cancer is diagnosed, many tests are used during and after treatment to monitor how well therapies are working. Monitoring tests also may be used to check for any signs of recurrence.

Genetics and Breast Cancer

To date, most inherited cases of breast cancer have been associated with two genes: BRCA1, which stands for BReast CAncer gene one, and BRCA2, or BReast CAncer gene two. The function of these genes is to keep breast cells growing normally and to prevent any cancer cell growth. But when these genes contain abnormalities, or mutations, they are associated with an increased breast cancer risk. Abnormal BRCA1 and BRCA2 genes may account for up to 10% of all breast cancers.

Women diagnosed with breast cancer that have an abnormal BRCA1 or BRCA2 gene often have a family history of breast cancer, ovarian cancer, or both. However it’s also important to remember that most women with breast cancer have no family history of the disease.

Identifying BRCA1 and BRCA2 has led to new techniques for lowering, detecting, and treating breast cancer and lowering the risk for the disease. For women who wish to be tested, we can now establish whether the two genes are normal or not.

But there’s still a lot more to learn about these genes. And other genes probably also play a role in the development of breast cancer, for women both with and without a family history of the disease.