What to Expect Regarding Your Health Care Following the Identification of a BRCA1 or BRCA2 Gene Mutation

When you learn that you have a BRCA1 or BRCA2 gene mutation, there are naturally questions as to what this will mean for your ongoing medical care and what you will need to do differently.   

The initial conversation with your healthcare provider will likely include a discussion about the options available to more carefully screen for the cancers for which you have an increased risk.  The discussion may also include options to reduce cancer risk, including medications and/or surgery.  These options may vary based on your age, gender, child-bearing desires, and family history. Your cancer screening will likely be different from your friends and family members of similar ages.  It will likely be recommended that you begin breast cancer screening at a younger age than what is typically recommended for women in the general population.   You may be offered screening more frequently and additional screening methods may be recommended, as they may be more appropriate for those with a higher cancer risk.  Women with a BRCA1 or BRCA2 mutation also have an increased risk for ovarian cancer and will likely be recommended to undergo regular screening and/or preventive surgery. Other considerations may include screening for other cancers like melanoma, pancreatic cancer and prostate cancer (for men) due to the increased risk for these cancers among individuals with a BRCA2 gene mutation.

It may be a good idea to coordinate the appointments for the breast exams, ovarian cancer screening, and ordering or reviewing the results of the breast cancer screening to try and limit the required number of visits whenever possible.  

Decisions about things like risk-reducing medications and surgery are often not easy ones to make.  You should meet with all of the appropriate doctors to discuss and weigh the risks and benefits of your options. The risks are often different for everyone because we all bring to the table our own unique health history.  It is not only important to think about the “if”, but also to consider the “when” as you think about risk-reducing surgery.  These decisions can be very personal and should be made after careful consideration with your healthcare providers, family, and others in your support network.   There is no right or wrong answer, only what is right for you at a particular time in your life.  Most importantly, the knowledge that you have an increased risk for cancer is meant to be empowering and provide an opportunity to make decisions about your health without this taking over your life.

Lastly, it is also very important to remain in contact with a healthcare professional that has knowledge of managing patient with hereditary cancer.  The recommendations for medical management change over time as more is learned about the cancer risks associated with BRCA1, BRCA2, and other gene mutations and the best way to manage these risks.  

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The information, including but not limited to, text, graphics, images and other material contained on this blog are for informational purposes only. The purpose of this blog is to promote broad understanding and knowledge of various health topics. It is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regimen, and never disregard professional medical advice or delay in seeking it because of something you have read on this blog. Ambry Genetics Corporation does not recommend or endorse any specific tests, physicians, products, procedures, opinions or other information that may be mentioned on this blog. Reliance on any information appearing on this blog is solely at your own risk.