I had genetic testing done a few days ago. My first questions when I got diagnosed with endometrial cancer were: "Why do I have it?" and "What caused it?" Maybe I will never know the actual answer. Several doctors I saw in the past year highly recommended genetic testing commenting that I was too young to get endometrial cancer. It is more typical for women over the age of 50 to get endometrial cancer. I remember I had a hard time finding women who got this cancer before their menopause. I found a few. We all ask why.
The genetic counselor was very kind but she overwhelmed me a tad with a ton of information for me to process. I decided to go ahead with the genetic testing primarily because it would be good to find out whether it was a hereditary cancer or sporadic cancer. There are three kinds of cancers--- hereditary, familial, or sporadic. Hereditary cancer emerges as a result of a gene mutation being passed down. Familial cancer, which typically involves several people in the family with the same kind of cancer, could be a combination of genetic and environmental factors. Sporadic cancer just emerges by chance. It is clear that mine was not familial because no one in my family had endometrial cancer. It's either hereditary or sporadic. If it's sporadic then I will probably never know why I got it. It could be the environment. People often talk about how our environment as well as what is in our food is toxic and there has been an exponential increase of people with cancer.
The genetic counselor reviewed the list of risk factors that could imply the presence of hereditary cancer: multiple, young, or rare. Multiple: at least two persons in the family having similar cancers. Young: anyone who had either breast, colorectal, or uterine cancer at age 50 or younger. Rare: any person who has the following rare occurrences at any age-- ovarian cancer, male breast cancer, triple-negative breast cancer, colorectal cancer with Lynch Syndrome, uterine cancer with abnormal Lynch syndrome, or 10+ gastrointestinal polyps. So far, I fall under the category of Young. I got diagnosed with uterine cancer at 38. She emphasized that I was very young to get this type of cancer. Genetic testing could confirm whether I have Lynch Syndrome which would put me in the Rare category. Those who have hereditary cancers have their lifetime cancer risks increase significantly. Hence the importance of genetic testing and developing a prevention plan for life.
The genetic counselor showed me a list of genes that impact eight important cancer types: breast, ovarian, colorectal, uterine, melanoma, pancreatic, stomach, and prostate. There are currently at least 25 identified gene mutations. They are still trying to see if there are more mutations to be discovered. Here's the list of identified gene mutations (I boldfaced the ones that leads to uterine cancer):
BRCA 1/BRCA 2
MLH1
MSH2
MSH6
PMS2
EPCAM
APC
MUTYH Biallelic
MUTYH Monoallelic
CDKN2A (p16INK4a)
CDKN2A (p14ARF)
CDK4
TP53
PTEN
STK11
CDH1
BMPR1A
SMAD4
PALB2
CHEK2
ATM
NBN
BARD1
BRIP1
RAD51C
RAD51D
I will be tested for all cancer genes. Results come 4-6 weeks after insurance approval. There are three possible outcomes: positive result, negative result, and uncertain variant. A positive result means I do have a gene mutation and a special medical management will be developed to monitor and prevent cancer. A negative result means there's no increased risk and I can be screened like the general population meaning start mammograms at age 40 and colonoscopy at age 50 along with my existing surveillance plan for the endometrial cancer. The uncertain variant result means that a mutation was found in the DNA but it is not known if the change would cause cancer. Medical management schedule will be similar to the negative result. Additionally, my DNA sample would be kept at the lab indefinitely. If they determine the mutation in the DNA is a new cancer gene, they will notify me regardless of when it is.
They told me before I came that they won't be collecting my blood at this particular location but my saliva sample. I thought they would be swabbing my cheek as seen on television. Nope. I was surprised to find out that I had to spit in a test tube. I had to keep on spitting until the sample reached the line on the test tube. The layer of bubbles was not counted. Believe me, it was hard to fill up that tube. I was instructed not to eat anything, take mints, chew gums, or drink anything other than water two hours prior to the test. Water was okay for up until 30 minutes prior. I had a dry mouth literally when it was time to collect my spit. I had to make chewing motions with my mouth to build up the saliva. My mouth was tired. They gave me a couple of breaks. I was able to fill up that tube in about ten minutes. Phew.
My tube of spit was sent to the lab in Utah. They will then pursue insurance approval before testing. the sample. The genetic counselor said that sometime the insurance companies refuse to give approval. They will then file an appeal proving that it is medically necessary given the fact I had endometrial cancer before the age of 50 in hopes that the decision would be overturned. The test costs $4500. Now it's a waiting game.
