Tert variant p.E652k aka c1954G>A
I just received my genetic test results and I have the above variant which is known to cause all different types of cancers the most concerning as a micro papillary form of breast cancer. Has anyone else received this and also had multiple biopsies and scans due to an area of concern?
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Hi @reddiat . Sorry you find yourself here. Do you know if you tested positive for a germline mutation or did your biopsy sample test positive for a somatic mutation? The germline mutations most of us here on the genetic mutations thread all have mutations that are inherited and “can” cause various types of cancer. It can be very unsettling and overwhelming when first presented with the information. Typically, you meet with a genetic counselor and/or high risk team. They get you started with education and can set up potential surveillance for various cancers and diseases. Please remember that not everyone with these mutations ever develop disease or multiple diseases. You also will probably be more closely monitored. Bodies are complicated and often it takes many factors, more than just the mutation, to tip them into disease. If you have a gun, you need bullets, and something to pull the trigger. Just having the gun does not mean you are going to get shot. But they will probably screen, test, and watch you more closely than someone without mutations. To me, this is a good thing!
I have two pathogenic mutations. I do see several types of doctors regularly. I do get lots of tests and procedures. But so far I am still here, healthy, and anything that has popped up so far has been dealt with. The regular surveillance has been a very positive thing for my life.Keep us posted. Hoping all goes well for you!
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