Category Archives: suspected deleterious

Finally Results

Genetic Variant – Suspect Deleterious

This is what my genetic test results said.  The doctors office faxed them over to me, but didn’t explain anything.  The nurse said that my GYN looked them over and was okay with the results and that was it.  So I went to the Myriad Genetic Lab website and clicked on the BRAC analysis and what do my results mean –

If your test result is either “Positive for a Deleterious Mutation” or “Suspected Deleterious”:

■You have a mutation or alteration in either the BRCA1 or BRCA2 gene

■You have hereditary breast and ovarian cancer (HBOC) syndrome

■HBOC syndrome increases the risk of various cancers, primarily breast and ovarian cancer

■While the risk of developing these cancers is high, not everyone with HBOC syndrome will develop cancer

Tuesday afternoon I faxed these results to my surgeon, to the oncologist and to the radiation oncologist and didn’t hear back from anyone, so I made more phone calls today.  The nurse at the surgeon’s office called me back and said that Dr. Ortiz had signed off on the results, but didn’t leave any notes, so  she scheduled me an appointment for March 1st to discuss them with him.  I spoke to the nurse at the oncologist office and she said that she would show them to Dr. Salloum and then call me back.  Never heard from her.  The radiation oncologist was out of the office all week and they told me to check back on Monday. 

So I’m not really sure what the difference is between “Positive for a Deleterious Mutation” or “Suspected Deleterious” and if treatment options are different.  Maybe because mine is just suspected I won’t need surgery, but then that means I will undergo radiation therapy.  I’m really not sure which one I would rather go through at the moment.

So we will continue to wait.  Maybe I will know more once I talk to the radiation oncologist.