Lynch Syndrome
Lynch syndrome is a genetic condition that increases the odds of a person developing several cancers and developing them earlier than normal, often colorectal cancer, endometrial cancer and ovarian cancer. Lynch syndrome can also increase the chance of developing biliary cancer, brain cancer, pancreatic cancer, stomach cancer and cancers of the urinary tract.
Lynch syndrome is also called hereditary non-polyposis colorectal cancer syndrome. It is caused by a mutation in any one of five genes: MLH1, MSH2, MSH6, PMS2, and EPCAM.
Genes are the set of instructions that tell cells what to do. A gene mutation is a change in a gene¡¯s DNA that causes that gene to stop working.
The genes that cause Lynch syndrome all make proteins that help repair damaged DNA. The mutated genes are not able to make these proteins. This lets some cells with damaged DNA turn into cancer cells.
People with a personal and/or family history of colorectal cancer or endometrial cancer may meet the criteria to test for Lynch syndrome.
Genetic testing may be especially important for people recently diagnosed with one of these cancers. They may need different treatments than those without a mutation. In addition, the specific features of a patient¡¯s tumor may indicate it is caused by Lynch syndrome. These patients should be tested, as well.
Talk to your doctor about whether you qualify for genetic counseling and testing.
Lynch syndrome: understanding your risk
The risk of developing certain cancers changes depending on which Lynch syndrome gene mutation a person has.
Lifetime risks without Lynch syndrome
Colorectal cancer, endometrial cancer and ovarian cancer are the three diseases most impacted by Lynch syndrome. The chances of developing these cancers for someone without Lynch syndrome are:
- Colorectal cancer: 4.1%
- Endometrial cancer: 3.1%
- Ovarian cancer: 1.1%
MLH1 mutation lifetime risks
- Colorectal cancer: 46%-61%
- Endometrial cancer: 34%-54%
- Ovarian Cancer: 4% to 20%
MSH2 and EPCAM mutations lifetime risks
- Colorectal cancer: 33%-52%
- Endometrial cancer: 21%-57%
- Ovarian cancer: 8%-38%
MSH6 mutation lifetime risks
- Colorectal cancer: 10%-44%
- Endometrial Cancer: 16%-49%
- Ovarian cancer: 1% to 13%
PMS2 mutation lifetime risks
- Colorectal cancer: 8.7%-20%
- Endometrial cancer: 13%-26%
- Ovarian cancer: 1.3%-3%
Genetic Testing for Lynch syndrome: Family History and Risk Assessment
In most cases, Lynch syndrome is passed down from parent to child.
If a person has Lynch syndrome, their children have a 50% chance of inheriting the condition. Their parents and siblings also have a 50% chance of having the syndrome. Blood relatives of people with a mutation, including aunts, uncles and cousins, may also carry the mutated gene.
Partners of people diagnosed with Lynch syndrome should consider testing, too. The children of two people with the condition may inherit mutated genes from both parents, putting them at very high risk for of developing cancer at a young age. This is a very rare condition, though.
Genetic testing for Lynch syndrome
When a person is diagnosed with Lynch syndrome, their parents, siblings and children should meet with a genetic counselor to discuss genetic testing. Testing typically requires a blood or saliva sample to test for the inherited mutation.
Testing an individual¡¯s parents can reveal which side of the family the mutation was inherited from. Blood relatives on that side of the family, including aunts, uncles and cousins, should also consider genetic counseling.
If parents are unavailable for testing, both sides of the family should consider genetic counseling. During a genetic counseling appointment, the counselor will review personal and family medical history and discuss genetic testing options.
If you pursue genetic testing, a genetic counselor will explain your test results to you. If you are diagnosed with Lynch syndrome, your genetic counselor and health care providers will talk to you about cancer prevention and screening options.
Learn more about genetic testing.
Lynch syndrome and colorectal cancer
Depending on the exact gene mutation, colorectal cancer screening for people with Lynch syndrome should start as young as age 20 and could include a yearly colonoscopy. Learn more about colorectal cancer screening.
Lynch syndrome and gynecologic cancers
Women with Lynch syndrome should get screening for endometrial cancer starting as young as age 30. This screening should include a pelvic exam, endometrial biopsy and vaginal ultrasound every two to three years. They should also speak to their doctors about regular ovarian cancer screening. Learn more about endometrial cancer screening and ovarian cancer screening.
In addition to screening, guidelines from the National Comprehensive Cancer Network recommend some women with Lynch syndrome get a hysterectomy to prevent cancer from developing. This is only a guideline, and women can discuss surgery timing with their doctors.
Since a hysterectomy prevents women from bearing children, many women with Lynch syndrome can delay surgery until after they have given birth. Women should talk with their care team about their goals around family planning. If they choose to delay surgery, their care team can develop a plan for more frequent cancer screenings.
Additional cancer screenings
Since Lynch syndrome can increase the risk of developing several additional cancers, your care team may recommend more screening exams and physical exams to check for these diseases.
Manage Your Risk
Lifesyle changes can reduce cancer risks for everyone, including people with Lynch syndrome.
How to make colonoscopy prep better
Clear liquid diets, giant containers of prep solution, heightened nerves, and spending the majority of an evening tied to your toilet¡ªit¡¯s no wonder that for many people, the toughest part of a colonoscopy isn¡¯t the procedure itself: it¡¯s the preparation.
As a gastroenterologist, colorectal cancer screening is one of my most important tasks. However, a colonoscopy is really a partnership. Your care team doesn¡¯t do all the work; you do much of that work ahead of time.
I¡¯m sharing some of the best tips I¡¯ve learned for making that prep process easier.
Know your ¡®why¡¯
While prep can be unpleasant, it can be helpful to understand exactly why you need to prep for a colonoscopy in the first place.
Colonoscopies are the best colorectal cancer screening method. They can help your care team find and detect colorectal cancer at an earlier stage when it is easier to treat. But colorectal cancer isn¡¯t the only thing your doctor looks for when performing a colonoscopy.
This procedure allows your doctor to see anything abnormal in your colon. This includes:
- Colorectal cancer
- Polyps, or abnormal growth in the colon¡¯s lining. Polyps may be benign or may grow into colon cancer if they aren¡¯t removed. If your doctor finds polyps, he/she will remove them during a colonoscopy and send them to a lab for testing.
- Inflammation
- Ulcers
- Bacterial or viral infections
- Diverticula
- Hemorrhoids
During a colonoscopy, a gastroenterologist uses a scope to take a close look at the inside of your colon. The inside of a colon looks like a collapsed tube sock, so during a colonoscopy, your doctor will use air to stretch out the colon so they can examine between any folds and crevices.
For a doctor to get a good look at your colon, it needs to be clean. Just like how a dirty window makes it harder to get a clear view, stool and food material can make it harder for your doctor to get a clear look at every part of your colon.
Start preparing early
Preparing for the colonoscopy is very similar to following a recipe. You usually want to check the recipe before the day you're going to cook the meal. This ensures you have all the ingredients, understand the directions and know how long the process will take.
If you wait until the day before your colonoscopy to prepare, it may be too late. Instead, set aside time a week before your procedure to read the instructions, pick up your prep and ensure you have all the medications you will need.
If you follow the prep instructions, getting a colonoscopy usually isn't as bad as what you may have heard. I think sometimes the hype is a little worse than the actual experience. Usually, people wake up from their procedures with me saying, ¡°Wow, that wasn't that bad!¡±
Eat a low-fiber diet the week before your colonoscopy
A week before your colonoscopy is a good time to start a low-fiber diet. While fiber is good for you, it can stick around your colon and gastrointestinal tract. That¡¯s why you should avoid high-fiber foods such as raw vegetables and salads starting a week before your procedure.
Stick to a clear liquid diet the day before your colonoscopy
Follow a clear liquid diet the day before your procedure. While the term ¡®clear liquid diet¡¯ might sound like it only includes water and broth, it includes anything that you could put into a glass dish and still read a newspaper underneath. For example, you can eat and drink options like:
- Black coffee
- Sports drinks
- Jell-O
- Broth that doesn¡¯t contain anything fibrous like rice, bread or vegetables.
Avoid food and drinks with red, orange and purple food coloring
Steer clear of eating or drinking anything with red, orange or purple food coloring the day before your procedure. This is because, sometimes, it can be hard for your care team to tell the difference between these reddish food dyes in your colon and something like blood or inflammation.
Foods and drinks with green or blue coloring are totally fine before a colonoscopy. If I see green in your colon, for example, I won¡¯t confuse it with blood. It¡¯s more of a concern for those reddish colors.
Don¡¯t drink your prep all at once
There are different varieties and flavors of colonoscopy prep, but they all work in a similar way. Your prep will contain some type of salt that you mix with a lot of water.
A common misconception about the prep solution is that you are supposed to drink it all at once. Instead, we recommend a more effective way to clean your colon called split-dose prep. This means drinking half of the prep the night before your procedure, usually within about a two-hour window.
Save the other half of the prep for the morning of your procedure. Usually, we aim to have patients finish their second half of the prep about four hours before their scheduled colonoscopy.
Chill your prep solution
One easy way to make your prep taste better? Drink it cold. Lukewarm prep in a jug that's been sitting out is going to taste much worse than if it's ice cold.
If the jug is too big to fit in your fridge, fill a thermos with ice and pour your prep into it as you drink it.
Use a straw to drink your prep
Using a straw can block some of the prep¡¯s flavor and make drinking your prep quicker. Win-win!
Flavor your prep your way
Some prep solutions come with a flavoring packet. While these flavoring packets may make your prep taste better, they don¡¯t make your prep work any better.
You don¡¯t need to use the flavoring packet that comes with your prep. Instead, you can go without or use another option like flavored electrolytes or lemonade packets ¨C just be sure to avoid options with red food dye.
One perk of using electrolyte packets is that they can help you stay hydrated. Prepping for a colonoscopy means drinking lots of fluid ¨C and flushing lots of fluid out of your body. Electrolyte packets can help you stay hydrated without having to drink even more water.
Put a menthol candy under your tongue while drinking prep
One lesser-known tip for getting through your prep? Place a menthol candy under your tongue to block the prep¡¯s taste. Just remember to choose an option without red, orange or purple food dye.
Remember the bigger picture
The lead-up to your colonoscopy can feel more inconvenient than the actual procedure.
A colonoscopy is relatively quick. In total, the procedure only takes about a half hour to 40 minutes. Most of that time, you¡¯ll be asleep under anesthesia. A colonoscopy is also painless since you don't have any nerves in your colon. So, even getting polyps removed doesn¡¯t hurt. You wake up completely unmindful of the procedure; the most you might feel is a little gassy due to the air used to stretch out the colon.
While the procedure itself is painless, the prep can be uncomfortable for some people.
The good news? Usually, you don't have to do it all that frequently. If you are at average risk for colorectal cancer, you should get a colonoscopy every 10 years starting at age 45. If polyps are found during a colonoscopy, you may need another colonoscopy a little sooner.
But if we don¡¯t find anything or the findings are benign, you only need a colonoscopy every 10 years. We strive to give you a high-quality exam every time so that we don¡¯t have to repeat your colonoscopy more often than necessary. A better prep leads to a higher quality exam, so it¡¯s worth it to follow the instructions.
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