Sometime last year Eli, my grandson, spit into a vial and sent it off for a genetic profile. He reported the results to his mother: he did not have Tay-Sachs, the usual Jewish disease, but he did have a mutation on his BRCA1 gene, the mutation that predisposes for breast and ovarian cancer, found in 1 in 40 Jewish people. Neither Robin nor I thought through all of the implications of this announcement. We both filed it away in the back of our minds and did nothing about it.
In November, Robin mentioned it during her annual gyn checkup and the doctor insisted she do something about it. She and Steve went to a genetic counselor, then had the test. Robin had the same mutation as Eli, so was at very high risk for breast and/or ovarian cancer. Since ovarian cancer is very hard to detect until it is too late, she decided to have her ovaries and tubes removed. This was done on Monday, and except for terrible nausea from the anesthetic or subsequent pain killers, the surgery was easy, there was no obvious cancer, and she is recovering quickly. She also had an MRI, a more reliable test than a mammogram, that found no breast cancer.
This mutation is dominant; either parent can pass it on. It slightly increases breast cancer risk in men, and probably increases prostate cancer risk, but this is very high for long lived men, in any case.
We don't know whether the mutation came from me or from Robin's father. There is ample evidence on both sides of the family. I have spent most of my life waiting for the family cancer to hit. It was actually a relief when I got the heart disease. Last week I went for the test. It will be about two weeks before I know. I don't intend to have any prophylactic surgeries: after all, I have reached the age of 76 without any cancer. I'll probably be a little more diligent about mammograms.
As Robin's cousin said: " I still can't believe that all of this is going on because of some gene that they found out about because Eli sent a spit-sample in to some random lab. It's crazy." But maybe it saved her life.
For more (accurate) information go to the FORCE website: http://www.facingourrisk.org/index.php