Monday, December 12, 2011
The results came back November 30th and a family meeting was scheduled to review the details and discuss our plan of action. Mom is positive for "Hereditary Diffused Gastric Cancer" or also known as CDH1. Her offspring have a 50% chance of inheriting this alteration.
This means she got gastric cancer because it was in her genes and passed down. To use a biblical illustration, our bodies are imperfect because we're decedents of once perfect humans who became imperfect. Therefore naturally we all suffer from all sorts of genetic problems, diseases, illnesses and infirmities. So these results are oddly comforting to us because inheriting something that is out of your control is much easier to accept than to wonder what you did wrong.
There is also something interesting to note on the test results which I will quote and attempt to explain.
"Positive, predicted to be deleterious: a heterozygous deletion of C at nucleotide 315 resulting in a frameshift mutation at codon 105 of the CDH1 gene"
The word "deleterious" means "harmful often in a subtle or unexpected way." So Mom is positive for the CDH1 gene but she also has a mutation of this gene.
"To our knowledge, this alteration has not been previously reported in the literature, nor has it been previously detected in our laboratory. This sample is heterozygous for this alternation, having an apparently "normal" or wild type copy of the gene along with the altered copy."
Of course there is much to read and study on these results, the methodology, interpretation etc.
I've attached a link from Stanford Medicine about the subject which you will find informative also. Maybe you'll see Mom on one of their studies someday! Until then, we shall keep you posted as always. Thank you for all of your love, support and prayers!