Tuesday, April 8, 2014

Positive for the CDKN2A Gene


I got the test results back from my Genetic Testing.  It is confirmed that I have the CDKN2A gene. That means my Melanoma is totally Genetic.  Which I pretty much knew already, but now it is confirmed as to which gene.  There still are probably other genetic factors at play, but this is one that researchers are aware of.

Problem is,  this gene comes with the possibility of an increased risk for Pancreatic cancer.
So now I have to decide whether I want regular screening for pancreatic cancer and if we should get the kids tested or not. 

For the kids, the Dr. said they are at risk or melanoma either way, even if they don't have the gene, and need to be regularly checked by a dermatologist.  But... it is a question of whether we do it now or wait till they are old enough to make that decision themselves.

As for the pancreatic thing, Pancreatic screening isn't simple.  It requires an endoscope through the digestive tract. And then there is the possibility of false positives.  But pancreatic cancer is a messy one. The statistics are outrageous. 95% of people diagnosed die within 5 years.  75% in the first year. 1 in 79 of the standard population will get pancreatic cancer and apparently now I am at greater risk. yay  . Good thing is, the Dr was optimistic about the pancreatic cancer since no one else in the family has had it.  But then again, of my family members who have had melanoma, Me, my Mom and Aunt are the 3 out of 6 that are still kicking. And my Aunt and Uncle who had melanoma, no longer have any living children. So that isn't a whole bunch to go on. 

The Dr. is going to be sending out a letter I can give to my family so they can see the value of having testing done and decide whether they want to have it done.  Just for research purposes it would be helpful.  Since this is still a fairly new avenue of science and there's much to learn. It would give them much more data to work with and then be able to apply to other families. 

At the end of our conversation, the Dr asked me how I felt about knowing the results. It's twofold, a bit disturbing and also kind of relieving.  If it wasn't positive, that would mean I still didn't know "which" gene was affected and the search wouldn't have been over. It's just too bad it had to be one that carried other risks with it. So the ongoing health saga simply continues, it's just the now I  know which path its on. 

Click for more info on
 Genes and Melanoma
Click for info on the Hereditary Cancer Program in BC

Published Apr 8 2014