How to Diagnose Lynch Syndrome
Lynch syndrome is also known as hereditary nonpolyposis colorectal cancer (HNPCC). It an inherited condition that increases the risk of colon and other types of cancer, and it increases the risk that these cancers occur at a younger age than usual — younger than 50 years old.If you believe you may be at risk, learn how Lynch syndrome is diagnosed.
Recognizing Your Risk of Lynch Syndrome
Determine if you have a family history of colon or uterine cancer.One of the main symptoms for Lynch syndrome is a family history of colon and uterine cancer, especially at a young age.
- If you have recently been diagnosed with colon cancer you may have Lynch syndrome, especially if you are under 50 years old.
- If you are healthy and young, but more than one immediate family member had confirmed colon cancer at age 50 or younger, you may be carrying the gene for Lynch syndrome that puts you at higher risk, and you should see a doctor for genetic testing. This can help identify if you should begin screening with colonoscopies at much younger age than normally recommended.
Watch for signs of colon cancer.Lynch syndrome is a genetic mutation that causes an increased risk of colon and uterine cancer — Lynch syndrome itself does not have any symptoms. The only way to diagnose Lynch syndrome is to get tested by your doctor. If you believe you may be at risk because of a family history of colon or uterine cancer, you should be vigilant for signs of colon cancer, even at a young age.
- Monitor changes of bowel habits. The changes in bowel habits may last for more than a few days. These changes may be diarrhea, constipation, a thinner or narrower stool, and the feeling that you need to have a bowel movement after just passing one.
- Look for blood in the stool. Another symptom of colon cancer is traces of blood in your bowel movements. This includes rectal bleeding or blood in the stool. You may see red blood or the stool may look very dark and tarry.
- Monitor for other bodily changes. Lynch syndrome connected with colon or other cancers may cause weakness and fatigue in someone who has it. A person may also experience unintended or unexplained weight loss.You may also experience cramping or abdominal pain.
Diagnosing Lynch Syndrome
Visit your doctor.If you think you are at risk for Lynch syndrome, you should visit your doctor, who will most likely refer you to see a specialist in genetics called a Medical Geneticist. They are experts in providing genetic testing, counseling, and management of genetic disease like lynch syndrome.
- You should see your doctor if you experience any of the physical symptoms, or have a family history of colon or other related cancer.
Determine if you are genetically predisposed.Lynch syndrome may be suspected if there is a family history of colon, endometrial, and other cancers, especially if those cancers showed up in younger family members. The diagnosis is determined by doing genetic testing.
- Your doctor may also ask about relatives with tumors of the stomach, small intestine, brain, kidney, liver, or ovaries, as the gene that is mutated in Lynch syndrome increases the risk for a number of different cancers.
- Your doctor will probably ask about cancer in previous generations, especially if you have multigenerational cancer patients in your family.
Get a tumor test.If you or a family member have tumors, the doctor can do testing on the tumor to see if you have Lynch syndrome. He can determine if certain proteins are in the tumors which indicate Lynch syndrome.
- If the tumor test proves positive, you may not have Lynch Syndrome. The mutations may develop just in the tumors or cancer cells. After a positive, your doctor can perform genetic tests to decide for sure if you have Lynch Syndrome.
- If anyone in your family has had cancer in the last few years, the hospital may still have a tissue sample your doctor can test.
Get a genetic test.Currently there are tests available for a number of the mutations that occur in Lynch syndrome. These tests screen for mutations in the the MLH1, MSH2, MSH6, and EPCAM genes.
- You can have your doctor send out your blood for testing, but you can also have your blood tested by a number of different labs. If you are interested in outside testing, check out Myriad myRisk, Quest Diagnostics, and Invitae.
Understanding Lynch Syndrome
Know that Lynch syndrome is a heredity condition.Lynch syndrome is a genetic condition. The genetic error that exists in those people with Lynch syndrome is a group of genes that code for proteins that actually help to repair genes.
- This group of genes are for “mismatch repair genes,” which are those genes that repair the relatively common mistakes when DNA reproduces itself. Errors in this matching process can be repaired normally, but in Lynch Syndrome, they cannot be repaired because the genes that code for the proteins that do the repair are themselves damaged.
- The cause of the cancers associated with Lynch syndrome is believed to be an accumulation of these errors mutations in the DNA.
- If a mother or a father has one copy out of two of this gene, there is a 50% chance that it was passed on to their child.
Understand what being positive for Lynch syndrome means.If your genetic test is positive for Lynch syndrome, it means that your lifetime risk of cancer is between 60 and 80%. It does not mean you will definitely have colon or endometrial cancer, but the risk of colon and endometrial cancer as well as other cancers is increased.
- The lifetime risk of endometrial cancer can range from 20 to 60%.
- The lifetime risk of other cancers are increased by less than 20%.
See your doctor for a cancer prevention program.Lynch syndrome is not treatable. If your genetic testing is positive, this means that you will need to consult with a genetic counselor as well as your physician to determine your best course of action for cancer prevention and future screening.
- This is likely to include a yearly colonoscopy, a yearly endometrial biopsy, as well as other screening tests, depending on your gender.
Video: Lynch Syndrome and Genetics 101 | Dana-Farber Cancer Institute
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