It has been a very long time since the last post. I see the last post was about the Latissimus Dorsi Flap procedure. So, what now? Genetic testing has finally come down in price enough that we figured it was time to have it done and see if there is a BRCA mutation for the sake of our children and grandchildren. We got the results and BRCA is negative but we got the news that there is a CDH1 gene mutation! Didn’t see that one coming! Huh? Looking up CDH1 brings a whole new twist to things.
Copied from the site nostomachforcancer.org: “Hereditary Diffuse Gastric Cancer (HDGC) is one type of stomach cancer that is sometimes caused by a mutation in the CDH1 gene. These stomach cancer cells are diffuse, meaning that they are widely spread or scattered throughout the stomach, making it nearly impossible to detect them at an early stage. The recommended treatment to prevent the development of this aggressive form of stomach cancer in CDH1 gene mutation carriers is prophylactic (preventive) total gastrectomy – complete removal of the stomach. People with other types of stomach cancer may also undergo total gastrectomy as part of their treatment plan. Total gastrectomy is also performed to treat some non-cancer medical conditions. The reconstruction that follows total gastrectomy is referred to as Roux-en-y.” Did you get that? It said complete removal of the stomach is the treatment!
So now to the Doc next week to see how to proceed. Vonnie will be seeing her breast surgeon that ordered the test and we assume that she will be referred on from there. Our girls plan to attend because it is genetic and could very well be passed on to them (and/or our son). We also will try to determine which branch of the family this was passed on from, her mother or father, so other relatives may be informed and hopefully get tested.
OK - Appointment with Doc went well. We were told the test showed the CDH1 gene was a variant of uncertain (or unknown) significance! This is good news so we are told. No further testing for family members and nothing to be done (at least for now).
OK - Appointment with Doc went well. We were told the test showed the CDH1 gene was a variant of uncertain (or unknown) significance! This is good news so we are told. No further testing for family members and nothing to be done (at least for now).
No comments:
Post a Comment