My little mutant

We had a visit with the genetic counselor today and it took her 20 minutes to say what I am about to say in a single sentance. About two weeks ago Holly had some blood drawn, the blood was sent to the only labratory in the country capable of screening for gene mutations in the BRACA1 and BRACA2 genes. There are known mutations in these genes that, if present, increase a womans chance of getting ovarian or breast cancer to 80%. Since there is only one laboratory in the country capable of isolating and evaluating these genes, the test is pricey and the doctors have to convince the insurance to pay for them. Because Holly's mom had ovarian cancer and she has breast cancer at a young age it was recomended that the test be adiminstrated. The idea is that the results may affect our decision as to further treatment and surgery. Okay, the ground work has been laid now for the results. A normal woman who contracts breast cancer at Holly's age has a 4% chance of another breast cancer or a reoccurance of the same one. If you add the fact that Holly's mother had ovarian cancer, the number climbs from 4% to 16%. According to the test results, Holly does not have either of the known BRACA1 or BRACA2 mutations that increase her cancer risk. There was a different anomaly in her BRACA1 gene that two other people, of 100,000++ people tested, share with Holly. Due to the small statistical sample, it is not known what the anomaly means. In other words, prior to the test results, she had a 16% chance of a reocurrance; after the test, she has a 16% chance of the reocurrance. So all we know is that she is a little mutant, but it does not affect cancer chances.

Okay, so that was a little more than one sentence, but I had to give you some history. Thanks for listening.

John