Unknown Mutations

I think the first thing that must be said about BRCA testing is that I sat with a social worker who specialized in the potential emotion impact of the results of genetic testing. Even though I already had a cancer diagnosis, had I tested positive for the gene, I would now have my daughter with a burden over HER head. To test or not. And when? I had enough of a family cluster of disease from a fairly detailed pedigree. I made all my treatment choices before I even got the results.

When the test came back with mutations of unknown significance on BOTH BRCA1 and BRCA2 I was stunned. Immediately, my mom was tested and she tested completely clean. She was the one with the first breast cancer but NO mutations. I sat with the social worker and the head of genetics to review the results and what they meant. He explained how "a mutation starts somewhere" so I could have inherited from my dad or I could simply be the first person with that particular mutation.

I remember how weird it was to see the results because they were so detailed (stuff I do not remotely understand) but what struck me was the fact that they indicated the number of times they had previously seen the mutation and why they couldn't classify them as "cancer causing genes" ..... and they also couldn't classify them as harmless either. One of them was seen seven times before me. The other one, they never saw before. I was the first. Last year, my youngest sister was dx'd with DCIS right on her chest wall. She tested for the gene and she was clean on one but matched the other one..... obviously came from dad.

It's a little frustrating to have a test done and basically be told, it could be something, it could be nothing or because of the family cluster of disease, it could be a gene not yet identified. Because I had been counseled through all of these scenarios, I was okay with still having no answer.

I know that I will be notified once these genes are classified and hopefully, both of them will be harmless so my daughter is off the BRCA hook. Unfortunately, she is still a "previvor" because of my family cluster.

A bit confusing to answer, but then that's exactly what the results were.... they took an entire page filled with four paragraphs to say, "we don't know" .... Since I tend to be the wordy one, every once in a while it will cross my mind and I'll laugh. Sometimes, you just gotta laugh. I think the first thing that must be said about BRCA testing is that I sat with a social worker who specialized in the potential emotion impact of the results of genetic testing. Even though I already had a cancer diagnosis, had I tested positive for the gene, I would now have my daughter with a burden over HER head. To test or not. And when? I had enough of a family cluster of disease from a fairly detailed pedigree. I made all my treatment choices before I even got the results.

When the test came back with mutations of unknown significance on BOTH BRCA1 and BRCA2 I was stunned. Immediately, my mom was tested and she tested completely clean. She was the one with the first breast cancer but NO mutations. I sat with the social worker and the head of genetics to review the results and what they meant. He explained how "a mutation starts somewhere" so I could have inherited from my dad or I could simply be the first person with that particular mutation.

I remember how weird it was to see the results because they were so detailed (stuff I do not remotely understand) but what struck me was the fact that they indicated the number of times they had previously seen the mutation and why they couldn't classify them as "cancer causing genes" ..... and they also couldn't classify them as harmless either. One of them was seen seven times before me. The other one, they never saw before. I was the first. Last year, my youngest sister was dx'd with DCIS right on her chest wall. She tested for the gene and she was clean on one but matched the other one..... obviously came from dad.

It's a little frustrating to have a test done and basically be told, it could be something, it could be nothing or because of the family cluster of disease, it could be a gene not yet identified. Because I had been counseled through all of these scenarios, I was okay with still having no answer.

I know that I will be notified once these genes are classified and hopefully, both of them will be harmless so my daughter is off the BRCA hook. Unfortunately, she is still a "previvor" because of my family cluster.

A bit confusing to answer, but then that's exactly what the results were.... they took an entire page filled with four paragraphs to say, "we don't know" .... Since I tend to be the wordy one, every once in a while it will cross my mind and I'll laugh. Sometimes, you just gotta laugh.