Recent studies have identified that patients who uncover genetic mutations such as BRCA 1/2 prior to their breast cancer diagnosis can reduce their risk and overall mortality.

An article  in the Journal of Clinical Oncology reports that the lifetime risk of breast cancer for a BRCA mutation carrier is approximately 70%.  However, most BRCA carriers are not identified until after their cancer is diagnosed. Researchers cite a lack of relevant family history information and routine BRCA screening in unaffected women as the cause for delay in risk identification. 

Findings reported that breast cancer patients had a five-year survival rate of 94 percent with previous knowledge of their BRCA 1/2 risk compared to 78 percent survival rate for those who learned their status after diagnosis. By identifying gene mutations in patients prior to diagnosis, patients can choose to undertake recommended risk reducing surveillance and prevention measures which might lead to breast cancer downstaging at diagnosis and measurable downstream benefits. 

Patients should be encouraged by their healthcare providers to document their family health information.  Electronic tools such as  MyLegacy  document and save family history and provide a visual family tree of health issues. This information can be used by healthcare providers to identify potential risks and recommend appropriate routine screening to reduce the chance of developing hereditary breast cancer. Providing the right treatment at the right time for the right patient can improve their survivability.

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