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Genetic Screening

Genetic testing involves examining your DNA, the chemical database that carries instructions for your body's functions. Genetic testing can reveal changes or alterations in your genes that may cause illness or disease. 3 of the most well-known abnormal genes are BRCA1, BRCA2, and PALB2. BRCA1 and BRCA2 are human genes that produce tumor-suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material. Women who inherit a mutation or abnormal change in any of these genes have a much higher-than-average risk of developing breast cancer and ovarian cancer.

Depending on the type of test, a sample of your blood, skin, amniotic fluid or other tissue will be collected and sent to a laboratory to be analyzed. Common tests include:

  • blood sample
  • cheek swab
  • amniocentesis (sample of the amniotic fluid)
  • chorionic villus sampling (tissue sample from the placenta)

Managing cancer risk in individuals who have a known harmful BRCA1 or BRCA2 mutation includes enhanced screening, prophylactic surgery and chemoprevention.

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