Likely Benign, Silent, and Intronic Variants

Mommy2Six

Two rounds of genetic testing have no come back negative. Genetics team said they are "puzzled by results," and still believe a hereditary cancer syndrome is at play and we just don't have the technology/research to detect it yet. They recommend that I continue to follow BRCA protocol and have repeat genetic testing in 2 more years....AGAIN.

However, when I got my copy of my results, there was a disclaimer on there that they had detected variants that are not currently believed to cause disease, and those results were contained in the supplemental report. I called the lab themselves, and they didn't want to give me that report. They said only my doctor could give me that report. We went back and forth a little about the law, and they finally had the genetic counselor for the lab call me back. He said they detected 40+ mutations that they either don't think cause disease, or are unsure whether they cause disease. He didn't want to comment on if that number is high, or normal. He echoed my genetics team in the belief that I should retest and said that it is definitely possible that eventually one or more of these variants will come to be associated with a hereditary cancer syndrome.

I guess what I'm wondering is whether or not anyone else has experienced a situation like this?