Interviewee: Mark Skolnick. Mark Skolnick recounts the complicated process of verifying that the gene they had found was indeed BRCA1. (DNAi Location: Applications > Genes and medicine > Gene hunting > Mark Skolnick > Is it the BRCA1 gene?)

So the process of finding the gene is very complicated. You get a signal that you have found something different in a gene in a family, and the first signal that we got for BRCA1 was actually a rather weak signal. It caused a slightly different protein to be made, but we couldn't be convinced that this protein actually was an abnormal protein that would cause a disease. So there was excitement, there was jumping up and down, but we knew we needed to find in another family a stronger change before we were really sure that we had the gene. Because in this process there are what we call gene scares, where you're looking at a gene, you see some changes, you hope that those changes mean that you've found the abnormal gene, but in fact as time goes on you discover that they're just normal variation, normal DNA variation in normal individuals. So it took some time for us to really be sure that we had the breast cancer gene and every time we got more evidence that this was it, there was another thrill, more excitement, and then once we were sure that we had the gene, then another race was on, that was the race to find the whole gene, because the prize was the whole gene.

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