What is Lynch Syndrome and How Do I Know If I Have It ?

So, in my last post, I talked about the BRCA1 and BRCA2 Mutations, which I hope you found to be useful. THank you for the wonderful comments and feedback. ❤

Today I am going to talk about an other type of cancer risk that has strong genetic roots called Lynch Syndrome. This Syndrome is sometimes also known as Hereditary Nonpolyposis Colorectal Cancer or HNPCC. For this blog, I'm going to go with Lynch Syndrome for the sake of not having to type that name again! (Whew!) Now, while there is currently more information about the specific mutations associated with BRAC1 and BRAC2, Lynch Syndrome is diagnosed through different criteria sets and also genetic testing.  

SUPER IMPORTANT NOTE: If you have this mutation, have been diagnosed with colorectal cancer or other cancers associated with Lynch Syndrome (❤HUGS!❤) have family members with this mutation or a family history of colorectal, ovarian or other reproductive and digestive cancers, please get additional information so you can be empowered and educated on how to reduce your cancer risk (I have some helpful hyperlinks below!) 


Image result for Lynch syndrome
Image Courtesy of the Cleveland Clinic

Lynch Syndrome is an inherited condition that puts an individual at increased risk for reproductive and digestive cancers. These cancers include but are not limited to colorectal cancer, stomach cancer, uterine cancer, bile duct and kidney cancer, cancer of the small bowel, pancreatic cancer and brain cancer. Now if you are like me, who does have Lynch Syndrome, reading this list of cancers is scary, which is why I wanted to share information to hopefully help to empower and inform you about what you can do if you have concerns. 

Okay, I mentioned that there are some criteria and tests that help an individual and their medical care professional to determine if they are at high risk for, or have this syndrome and need additional testing and screenings.

AMSTERDAM CRITERIA 
  • Three or more family members with a confirmed diagnosis of colorectal cancer, one of whom is a first degree (parent, child, sibling) relative of the other two
  • Two successive affected generations
  • One or more colon cancers diagnosed under age 50 years
  • Familial Adenomatous Polyposis (FAP) has been excluded (this means that you have a history of people in your family having precancerous polyps in the colon). These polyps CAN become cancerous, so having a COLONOSCOPY at 50 or EARLIER if you are high risk is absolutely necessary. 
BETHESDA CRITERIA
  • Developing colorectal cancer at or before the age of 50.
  • Developing the cancers that I mentioned earlier (digestive and reproductive brain cancers) also at or before the age of 50.
  • If you develop colorectal cancer before the age of 60 where the tumor features were consistent with Lynch Syndrome. Lynch syndrome cancers tend to be on the right side of the proximal colon. 
  • Colorectal cancer in one or more first degree relatives who had colorectal cancer and one of the previously mentioned cancers and these developed before the age of 50.
  • Colorectal cancer in two or more first or second degree relatives who developed any of the previously mentioned cancers. 

GENETIC TESTING

  • There are genetic tests available that will show whether or not there are deleterious mutations that put you at higher risk for colorectal cancers, digestive cancers and reproductive cancers that are associated with Lynch Syndrome. You and your medical care professional will decide if his testing is necessary to confirm diagnosis. 
  • Here are some of the genes associated with Lynch Syndrome. Remember, this is a work in progress and in time other genes may be added to this list. 
    • MSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH3, EPCAM
So, if you or someone in your direct family (parents, children, brother or sister) have developed colorectal cancer or any of the cancers that I've mentioned cancer at or before 50 you need to talk to your doctor about testing. If you also have second degree relatives who developed colorectal cancer or an of the cancers that I've mentioned before the age of 60, you need to talk to your doctor about testing. If you have a test and find mutations on these genes, you will need to come up with a screening plan. 

Image result for doctor and patient dialogue
Courtesy of  Medical Daily 
WHAT WILL MY DOCTOR AND I TALK ABOUT?
  • You are going to discuss your family history of cancer, so before your appointment, collect as much family history as you can, especially the type of cancer and when your family member was diagnosed. 
  • You will likely discuss your lifestyle. Do you smoke, drink excessively, have a high fat diet, etc. that may put you at even higher risk. 
  • If you meet the criteria for Lynch Syndrome or get genetic testing back showing you have specific gene mutations that are associated with Lynch Syndrome, a screening plan will be created that will help reduce your cancer risk.
OKAY - I HAVE BEEN DIAGNOSED WITH LYNCH SYNDROME. WHAT HAPPENS NEXT?
First of all (❤HUGS!❤). This is not a fun diagnosis and knowing how to navigate your health care can be a bit on the baffling side of life. Here are some steps and you and your medical care professional will come up with to decrease your cancer risks.
  • You will likely start having colonoscopies every few years, starting in your early 20's. By comparison, people without Lynch Syndrome don't usually get colonoscopies until the age of 50. I have my first colonoscopy scheduled for next Tuesday and I promise that I will keep you posted on how it goes!
  • Women diagnosed with Lynch Syndrome will have increased uterine and endometrial screenings to make sure these reproductive organs are in good shape. This is the procedure that I had last Thursday (A transvaginal ultrasound). 
  • You will also likely have more screenings via urinalysis for urinary tract cancers. 
  • You may also get screen by endoscopy to make sure your upper digestive system is working well and is cancer free.  
  • In some cases, based on your unique history and risk, you may elect based on the recommendation of your health care team to have your colon removed (colectomy), remove your uterus (hysterectomy) and or your ovaries (oophorectomy). I am having a hysterectomy and oophorectomy because I am BRAC1 Positive and have Lynch Syndrome. 
I STILL WOULD LIKE TO LEARN MORE ABOUT LYNCH SYNDROME - ANY HELPFUL HYPERLINKS? 
You betcha. For me, the most I can learn about this syndrome, the more empowered and determined I feel to kick cancer in the behind before it kicks me! I have 2 children I love, a husband I adore and a rich and wonderful like that I want to live! Education about Lynch
Syndrome and other inherited cancers like BRAC1 and BRAC2 empower me and other survivors and previvors to face these challenges head on and with support. Please know that you are NOT alone in this journey and there is more support out there than you can imagine. Okay, here are those links I promised, so please get reading!  

 All My Love, 
MightyMightyMunson ❤

 Namu Amida Butsu





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