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


  1. Have you heard of Epigenetics? Basically we now know that we can have an influence upon our genes within our lifetime through our diet and lifestyle....
    Researchers have uncovered a range of possible chemical modifications to deoxyribonucleic acid (DNA) and to proteins called histones that associate tightly with DNA in the nucleus. These modifications can determine when or even if a given gene is expressed in a cell or organism.
    It is really fascinating, I don't know a lot about it but it is promising. Stacey

  2. I think the genetic testing is a terrific idea, it only confirmed what we pretty much already knew. The one that scares me more is the issue of pancreatic cancer. I'm torn between knowing or not, will have to give it some thought. I don't have a problem with the CDKN2A test, I'm certain my result will be the same as yours since you are my daughter. I suppose the only good thing going for us is the fact that there is no history of pancreatic cancer in the family. Awaiting the paperwork for the testing. Good idea to have it done for the benefit of your offspring and the compilation of the research. Life keeps throwing curve balls our way! Hang in there kiddo! Love you to bits.