Have you ever heard of Lynch Syndrome? This name may be a bit new to you. But it is a genetic condition that is passed down from generation to generation that greatly increases our risk of developing cancer. This increases the risk of developing cancer, especially before the age of 50. It is normal to feel a little scared when you hear the words "you might get cancer". But the most important thing is to be well-informed about such conditions. So today we will talk about this simply, in a way that you can understand.
Simply put, what is Lynch Syndrome?
Imagine that our body is like a complex machine that works according to a big instruction book (DNA). Our genes are like the letters in this instruction book. Sometimes, there are mistakes in this instruction book, or 'typing mistakes'. In medicine, this is called genetic mutations.
Lynch syndrome is a condition caused by a genetic mutation. Our body has a special type of gene that detects and repairs mistakes in our DNA. This is called the ``mismatch repair (MMR)`` gene. It's like a ''repair team'' in our body. A person with Lynch syndrome has a defect in one of the genes in this ''repair team''. Therefore, mistakes in DNA are not repaired properly. Cells with these mistakes accumulate and over time, they are more likely to become cancerous.
This condition can affect anyone. Because it is a genetic condition. Sometimes you can inherit this defective gene from your mother or father. Very rarely, this genetic mutation can occur in a new person's body without anyone in the family. If you look at the statistics in a country like America, it is estimated that approximately one in 279 people has this condition.
What symptoms might someone with Lynch syndrome experience?
The important thing to note here is that Lynch syndrome does not have any specific symptoms. Instead, it is a symptom of the cancers that are caused by the condition. The most common of these is colorectal cancer.
So, here are some common symptoms that may be associated with colorectal cancer:
| Symptom | Description |
|---|---|
| Blood in the stool | The stool may be red or dark black with blood mixed in. |
| Stomach pain or cramping | Frequent stomach aches or discomfort. |
| Change in bowel habits | Sudden onset of constipation or diarrhea, or stools that are thinner than usual. |
| Frequent fatigue | Constant fatigue despite good rest. |
| Bloating or bloating | Feeling full or bloated even after eating a little. |
| Nausea or vomiting | Nausea or vomiting without an obvious cause. |
The important thing is that not everyone gets these symptoms. Sometimes the cancer may not show any symptoms until it is very advanced. Therefore, if you continue to have one or more of these symptoms, be sure to see your doctor for advice.
What types of cancer can develop due to this condition?
Lynch syndrome is not a condition that opens the door to just one type of cancer. It increases the risk of developing cancer in many different parts of the body. The organs at risk can vary depending on the faulty gene. `MLHL`, `MSH2`, `MSH6`, `PMS2` and `EPCAM` are the five main genes involved.
Below are some types of cancer that Lynch syndrome increases the risk of.
| Cancer type | Relevant body part |
|---|---|
| Colon and rectal cancer | Digestive system |
| Uterine/Endometrial cancer | Female reproductive system |
| Ovarian cancer | Female reproductive system |
| Stomach cancer | Digestive system |
| Small intestine cancer | Digestive system |
| Pancreatic cancer | Digestive system |
| Upper urinary tract cancer | Urinary system |
| Brain cancer | Nervous system |
| Skin cancer | Skin |
Colon cancers caused by Lynch syndrome are a little different. They grow much faster than normal cancers. While it takes about 10 years for a normal polyp to become cancerous, it takes as little as a year or two for someone with Lynch syndrome to do so.
Also, due to this condition, a person who has once developed colorectal cancer and recovered has a higher risk of developing the same type of cancer again.
Consider, there is about a 15% risk of cancer developing again within 10 years after the first cancer is surgically removed. This risk can increase to 40% after 20 years, and to 60% after 30 years. This shows how important regular screening is.
How is this passed down through generations?
Lynch syndrome is a condition that is passed down from generation to generation in an ``autosomal dominant`` manner. This simply means that even if only one parent , either the mother or the father, has the defective gene, there is a 50% chance that the child will inherit it. This means that each child has a 50% chance of inheriting it and a 50% chance of not inheriting it.
Therefore, if you or someone in your family is diagnosed with Lynch syndrome, it is very important to inform the rest of your family. Especially your siblings, children, and parents should be told about this risk. Referring them to genetic testing and counseling may even save their lives.
How do I know if I have this condition? What tests should I do?
The best way to confirm whether you have Lynch syndrome is to do genetic testing . This usually involves taking a blood sample. Or a buccal swab is taken from the inside of your mouth. This test can accurately detect whether you have a mutation in the genes we talked about earlier, such as MLHL and MSH2.
If you are diagnosed with Lynch syndrome, the next most important thing is to get regular screenings to detect cancer early. Your doctor will develop a screening schedule that is right for you.
| Test | How to do it and recommended time |
|---|---|
| Colonoscopy | A colonoscopy is a procedure in which a thin tube with a camera is inserted through the anus to examine the colon. It is usually recommended every year or two . |
| Transvaginal Ultrasound | For women, a pelvic exam, which involves inserting a scanning device through the vagina and examining the uterus and ovaries, is recommended every year or two . |
| Urinalysis | Obtain a basic understanding of kidney-related cancers by testing a urine sample. It is advisable to do this annually . |
| Upper Endoscopy | A tube with a camera inserted through the mouth to examine the stomach and upper part of the small intestine. Recommended every 3-5 years . |
| Biopsy | If suspicious tissue or a tumor is found during the above test, a small sample is taken and tested for cancer cells. |
How is Lynch syndrome treated?
There is currently no cure for the genetic condition Lynch syndrome. Therefore, the main focus of treatment is to detect and surgically remove the cancer cells from the body. If the cancer can be detected and removed before it spreads to other parts of the body, the results are very successful.
This requires a multidisciplinary team of doctors. For example, gastroenterologists, surgeons, gynecologic oncologists, and oncologists work together to treat this condition.
Some people, especially women who have completed their families, choose to have a hysterectomy or oophorectomy before any disease develops to reduce their risk of developing uterine or ovarian cancer in the future. Similarly, those at high risk of colon cancer may choose to have a colectomy. These are very personal decisions, and should be made after extensive discussion with your doctor.
Are Lynch syndrome and HNPCC the same thing?
You may have also heard the name `HNPCC (Hereditary Non-Polyposis Colorectal Cancer)`. Lynch syndrome and HNPCC are often used interchangeably, but there is a slight technical difference between the two.
Simply put, the name HNPCC is used based on family history. That is, if several members of a family have developed this type of cancer, that family is said to have HNPCC. But Lynch syndrome is the name given after the specific gene mutation that causes it is identified. So, all members of a family with HNPCC can have the Lynch syndrome gene mutation. Also, a person who develops a new gene mutation without anyone else in the family can also be said to have Lynch syndrome.
No one likes to hear the words, "You have cancer." Someone with Lynch syndrome may have to hear those words at some point in their life. But it's not the end of the world. If you are aware of your condition, work with your doctor, and get regular cancer screenings, any cancer can be detected and cured at its earliest stage. Early detection and treatment are the best way to live a healthy, happy life.
Take-Home Message
- Lynch syndrome is a genetic condition that is passed down from generation to generation and increases the risk of cancer.
- Even if only one parent has this defective gene, a child has a 50% chance of inheriting it.
- If you or someone in your family is diagnosed with this condition, it is very important to inform other close family members about it.
- Although this genetic condition cannot be cured, the best way to prevent or detect cancer early is to undergo regular medical screenings.
- Early detection and treatment of cancer can yield very successful results and allow you to live a healthy life.
- Always consult with your doctor to set up a testing schedule that suits you and to address any concerns.
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