I am a mutant.
I can't breath fire or transform myself into plastic. In fact, I look pretty much like everybody else. However, I do have a variation on one of my chromosomes that makes me. . . different.
Here, you can read my lab report:
The frameshift mutation 185delAG in exon 2 of the BRCA1 gene leads to a premature stop codon at amino acid 39. The gene putatively produces a truncated BRCA1 protein of 38 amino acids instead of 1863.
I don't really know what all of that means, but it don't need Crick and Watson to explain to me that if I'm supposed to have 1863 of something and I only have 38, then I'm pretty much fucked.
How fucked? Well you can read all of that for yourself over here.
But basically, I have an 80% chance of getting breast cancer and if that wasn't fucked enough, I also have a 45% chance of getting ovarian cancer.
I don't actually have cancer.
That I know of.
Yet.
Is it a Canadian lab report? Not that it really matters, but the "38 out of 1800" part is probably wrong. What actually happens is the loss of the first 47 amino acids. "Only", except that this little piece if critically important.
http://hmg.oxfordjournals.org/cgi/reprint/11/23/2805
look at the last lines of page 6 and then on to pg 7
Posted by: MutC | June 30, 2009 at 01:00 PM