Have you ever heard of the term ``Lynch Syndrome''? This may be a new word to you. But it's important for all of us to know. Simply put, Lynch Syndrome is a condition that increases the risk of developing cancer due to certain changes in our genes. Specifically, it increases the risk of developing cancer before the age of 50. So, let's talk about this in a little more detail, shall we?
What exactly is Lynch Syndrome? Who gets it?
Lynch syndrome is a genetic condition that is inherited . That is, it is caused by a genetic mutation in the genes we inherit from our mother or father. Imagine that when our cells divide, small mistakes can sometimes occur. Our bodies have special genes that detect and correct these mistakes. These are called 'Mismatch Repair genes' (MMR genes). A person with Lynch syndrome has a defect in one or more of these 'MMR' genes. Then, the other mistakes cannot be corrected when those cells divide. These damaged cells accumulate and become cancer .
This can happen to anyone. Because it is genetic. Sometimes, even if no one in the family has had this condition before, a person can develop it due to a random genetic mutation. This means that just because there is no family history, it does not mean that it will not happen.
According to statistics in the United States, about one in 279 people may have Lynch syndrome. It is said that about 4,000 cases of colorectal cancer and about 1,800 cases of endometrial cancer are caused by Lynch syndrome every year. It is very important to be aware of this condition in Sri Lanka as well.
What are the symptoms of Lynch syndrome?
The symptoms can vary depending on the severity of the condition and the type of cancer that is causing it. The most common symptoms of colorectal cancer include:
- Blood in your stool.
- Constipation .
- Abdominal pain or cramps.
- Diarrhea or stool smaller than normal.
- Frequent feeling of extreme fatigue (`Fatigue`).
- Feeling full or bloated.
- Nausea or vomiting.
The important thing is that some people may not show any symptoms until the cancer is very advanced. Therefore, if you have any of these symptoms, you should see a doctor immediately .
What types of cancers can be caused by Lynch syndrome?
This can actually affect many organs. Here are some types of cancer that can be caused by Lynch syndrome:
- Brain cancer
- Colon and rectal cancer - This is the main one.
- Gallbladder cancer
- Liver cancer
- Ovarian cancer
- Pancreatic cancer
- Prostate cancer
- Skin cancer
- Small intestine cancer
- Stomach cancer
- Upper urinary tract cancer
- Uterine (endometrial) cancer - Another type of cancer that commonly affects women.
The mutation in which gene (`gene`) is present determines which organ is at higher risk of cancer. There are five main genes associated with Lynch syndrome. They are: `MLH1`, `MSH2`, `MSH6`, `PMS2` and `EPCAM`.
Colon cancer caused by Lynch syndrome can develop earlier (within 1-2 years) than in the general population. It usually takes about 10 years for colon cancer to develop. Also, a person who has had colon cancer has a higher risk of developing the cancer again . There is about a 15% risk within 10 years of surgery for the first cancer, about a 40% risk within 20 years, and about a 60% risk after 30 years.
What causes Lynch syndrome?
As mentioned earlier, the main cause of this is a genetic mutation in one or more of the five genes that correct mistakes in our DNA (the ``mismatch repair gene`` or ``MMR gene``). Those five genes are:
- `MLH1`
- `MSH2`
- `MSH6`
- `PMS2`
- `EPCAM`
If you have Lynch syndrome, your `MMR` genes don't get the instructions they need to get rid of damaged cells. Then those damaged cells accumulate in tissues and cause cancer.
How does this come from generation to generation?
Lynch syndrome is an ``autosomal dominant`` condition. Simply put, even if only one parent has the mutated gene, the child can inherit it . This means that there is a 50% chance that the child will also have the condition.
If you have been diagnosed with Lynch syndrome, it is important to inform your family members and encourage them to seek genetic counseling . Genetic counseling can help you and your family understand the condition and the risk of your child inheriting it. Genetic testing can also be done to see if you have the Lynch syndrome gene mutation.
How is Lynch syndrome diagnosed?
Your doctor can diagnose Lynch syndrome through prenatal screening tests and genetic testing. Genetic testing can also be done after your baby is born.
A genetic test involves taking a blood sample or a buccal swab to check for a mutation in the previously mentioned genes `MLH1`, `MSH2`, `MSH6`, `PMS2` or `EPCAM`. If a genetic test confirms the presence of such a mutation, the doctor will diagnose Lynch syndrome.
What tests are used to detect cancers associated with Lynch syndrome?
If you are diagnosed with Lynch syndrome, your doctor will often recommend several tests to check for cancer. The most common tests are:
- Colonoscopy: This involves inserting a tube (scope) with a camera attached through the anus to examine the inside of the large intestine and rectum. This is usually done once a year or every two years.
- Transvaginal ultrasound: A small instrument (probe) is inserted through the vagina to examine the ovaries and uterus. This is also recommended once or twice a year.
- Urinalysis: A sample of your urine is taken to check for things like kidney tumors. This is usually done once a year.
- Tumor biopsy: If your doctor suspects that you have a tumor somewhere in your body, they will take a small piece of it and test it in the lab to see if it contains cancer cells.
- Upper endoscopy or capsule endoscopy: A procedure that uses a small, thin tube (scope) or a microscopic camera (a small, thin tube that is swallowed like a pill) to look for cancer in the stomach and small intestine. You may be asked to do this every three to five years.
How is Lynch syndrome treated?
The key to treating Lynch syndrome is early detection and surgical removal of tumors . This means getting regular screenings and catching cancer early, if it is present.
Who treats this?
It is best to seek treatment from a multidisciplinary team . Because Lynch syndrome can affect multiple organ systems, this team may include gastroenterologists, surgeons, gynecologic oncologists, urologists, dermatologists, gynecologists, primary care physicians, geneticists, genetic counselors, and oncologists.
Can cancer come back after treatment?
Yes, even if the cancer is removed surgically, there is a chance that the cancer will come back . That's why it's important to continue testing.
Some people with Lynch syndrome, because they are at higher risk of developing cancer, decide to have surgery to remove the uterus (hysterectomy), ovaries (oophorectomy), or part of the intestine (colectomy or bowel resection surgery) early. This is largely a personal decision, and should be made on the advice of a doctor.
Can Lynch syndrome be prevented?
Unfortunately, Lynch syndrome is a genetic condition, so it cannot be completely prevented . However, people with Lynch syndrome can be screened for cancer throughout their lives, starting in adulthood, so that cancer can be detected early if it develops .
What happens if you have Lynch syndrome? What can you expect?
There is currently no cure for Lynch syndrome. However, the best results are achieved if the cancer is found and removed early, before it spreads to other parts of the body . Therefore, it is very important for people with Lynch syndrome to have annual screening tests, such as a colonoscopy.
Will Lynch syndrome cause tumors in my colon?
People with Lynch syndrome may develop several 'adenomas', a type of non-cancerous growth in their colon or rectum. If these 'polyps' are not identified and removed, they can become cancerous. That's why it's important to have regular colonoscopies to check for these and remove them if they are present.
When should I see a doctor?
If you have Lynch syndrome, it is important to have annual checkups and screening tests on a regular schedule .
If you notice any lumps, new growths, or skin changes anywhere on your body, see a doctor immediately , as these could be signs of cancer.
What questions should I ask my doctor?
- How often should I have cancer screening tests?
- Is this lump on my skin cancer?
- What gene mutation do I have?
- Can I get a genetic test before I plan to get pregnant?
Are Lynch Syndrome and HNPCC the same thing?
Lynch syndrome and ``Hereditary Non-Polyposis Colorectal Cancer`` (``HNPCC``) are sometimes used interchangeably to refer to the same condition. However, there is a slight difference between the two in the way they are passed down through generations.
Lynch syndrome is caused by a mutation in the `MMR` gene. The same gene mutation also affects people with `HNPCC`. However, the name `HNPCC` is given when this condition occurs with a family history . That means `HNPCC` is always inherited from generation to generation. Lynch syndrome can sometimes occur without anyone in the family having it, and can also occur due to a random gene mutation. That is why the name Lynch syndrome is now widely used.
Finally, things to remember (Take-Home Message)
No one likes to hear the words, "You have cancer." When you find out you have Lynch syndrome, you may have to hear those words from your doctor. But it doesn't have to be a bad thing.
Once you are diagnosed with Lynch syndrome, your doctor will work with you to schedule regular screening tests to help detect cancer early. Early detection and treatment are the best ways to improve your chances of survival . Then you can live a happy, healthy life.
Therefore, instead of being scared by this information, be aware, seek medical advice if necessary, and try to live a healthy life . If anyone in your family has this condition, it is very important to inform them about this as well.
` Lynch syndrome, HNPCC, cancer, genetic mutations, hereditary diseases, colon cancer, uterine cancer
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