Lynch Syndrome

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According to a study, Lynch syndrome is the most common inherited cancer syndrome, affecting as many as 1 in every 370 people in Western countries. Lynch syndrome causes about 4,000 colorectal cancers and 1,800 uterine cancers per year. This condition is a type of inherited cancer syndrome associated with a genetic predisposition to different cancer types. Lynch syndrome is diagnosed by DNA analysis and genetic testing.

What is Lynch Syndrome?

Lynch syndrome, also known as “hereditary non-polyposis colorectal cancer”, is a type of inherited cancer syndrome associated with a genetic predisposition to different cancer types.

Lynch syndrome is an inherited condition that increases a person’s risk of developing colorectal cancer and other forms of cancer.

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Lynch Syndrome

The Lynch syndrome which is also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is a type of inherited (hereditary) cancer associated with a genetic predisposition to different other cancers such as colon cancer, endometrial (uterine) cancer, gastric (stomach) cancer, small intestine cancer, ovarian cancer, pancreatic, brain cancer, prostate cancer, etc. This means people diagnosed with Lynch syndrome have a higher risk of the types mentioned above of cancer.

Picture Courtesy: Everydayhealth

What are the risk factors associated with Lynch syndrome?

Certain people are prone to be affected by the condition considering the following factors:

  • Early diagnosis of colorectal or endometrial cancer before the age of 50.
  • Diagnoses of colorectal and endometrial carcinomas before 50. Lynch syndrome is a condition that can be diagnosed as colorectal cancer or other types of cancer. 
  • Colon cancer in the family that has occurred at an early age. 
  • Family history of related cancers such as ovarian cancer and stomach cancer, kidney cancers, small intestine cancers, liver cancer, sweat cancer, or other types.

What are the complications associated with Lynch syndrome? 

The main complication of Lynch syndrome in colorectal cancer. However, individuals can also develop noncancerous colon polyps, and if ignored, colon polyps can cause the following symptoms:

  • Anemia
  • Stomach pain
  • Constipation or diarrhea
  • Fatigue
  • Change in color and texture of the stools


Lynch syndrome is diagnosed by DNA analysis and genetic testing. This is done after reviewing the individual’s personal and family medical history to determine their likelihood of Lynch syndrome. A few of the diagnostic tests which are used are listed below:

  • Family history of the patient
  • Tumor testing- tumor testing can help us to diagnose whether the cancer is caused by genes related to Lynch syndrome or not. The tumor tests include:
  1. Immunohistochemistry testing (IHC)- A special dye is used to stain the sample tissues during this test. The presence or absence of stain indicates whether a certain protein is present in the sample or not, and that missing protein indicates which mutated genes caused the cancer.
  2. Microsatellite instability testing (MSI)- Microsatellites are sequences of DNA. People with Lynch syndrome have instability or errors in these sequences in the tumor cells.
  • Genetic testing shows positive and negative genetic testing and a gene variation of unknown significance.
  • Colonoscopy- is considered to be the preferred method for diagnosing Lynch syndrome.
  • Complete blood evaluation.


Lynch syndrome treatment will vary depending on whether someone has signs of colorectal cancer. The specific treatment will depend on the stage, the diagnosis, and the patient’s overall health.

  • Regular colonoscopies and cancer screenings are carried out on people with Lynch syndrome who have not developed cancer. A prophylactic colectomy is an option to remove the colon before it becomes cancerous.

The following treatments are available for people who have Lynch syndrome and have developed colorectal cancer. 

  • Polypectomy: 

Polypectomy is a surgical procedure that involves the removal of cancerous polyps lining the colon.

  • Colectomy: 

Colectomy is a procedure that involves the removal of all or part of the colon and any lymph nodes affected. 

  • Ablation: 

Ablation refers to the use of radiofrequency radiation, including microwaves, in order to remove small tumors. 

  • Cryosurgery: 

Cryosurgery involves using a thin metal probe to deliver cold gas to the tumor’s surface to kill cancer cells. 

  • Embolization: 

Embolization refers to the infusion of a thin tube into an artery to stop blood flow to large tumors.

What are the most common symptoms of Lynch syndrome?

This condition could be characterized by the following signs and symptoms: 

  • Weight loss 
  • Stomach pain 
  • Fatigue 
  • Constipation 
  • Bloody stools
  • Unexplained diarrhea 
  • Anemia 
  • Lethargy 


Lynch syndrome can be described as a genetic disorder. It occurs when a person inherits an abnormal gene. It is caused by inherited genetic changes that affect DNA mismatch repair.
Lynch syndrome results from a mutation (harmful alteration) in one of five genes, MLH1, MSH2, MSH6, pmS2, or EPCAM. Most mutations are found in MLH1 or MSH2. Lynch syndrome is a common condition in families with an autosomal dominant inheritance. This implies that if one parent carries a gene mutation for Lynch syndrome, there’s a 50 percent chance that the mutation will be passed on to each child. It is not a cause of cancer. Not all people with Lynch syndrome have cancer.



What causes Lynch Syndrome?

Lynch syndrome is caused by a harmful change (mutation) in one of five genes: MLH1, MSH2, MSH6, PMS2, or EPCAM. The most common mutations occur in MLH1 and MSH2.

Is Lynch Syndrome hereditary?

Yes, Lynch syndrome is an inherited condition that increases a person’s risk of developing colorectal cancer and other forms of cancer.

Does having Lynch syndrome mean I will have cancer?

No, not everyone with Lynch syndrome will get cancer.

What are the Signs of Lynch Syndrome?

Having colon cancer before the age of 50 is a possible sign of Lynch syndrome. Also another sign that may suggest a risk of Lynch syndrome is if people in the patient’s family had colon cancer when they were young.

What are the treatment options for Lynch syndrome?

Treatment for Lynch syndrome varies depending on whether the patient has colon cancer. Lynch syndrome can be treated via:
1. Surgery
2. Chemotherapy and
3. Immunotherapy

Can Lynch syndrome be prevented?

Since Lynch syndrome is an inherited condition, it cannot be prevented. However, patients diagnosed with Lynch syndrome should undergo lifelong cancer screening tests from childhood. Patients should maintain a healthy lifestyle. Patients should follow a diet high in veggies, fruits, and whole-grain can help lower the risk of cancer. Stop smoking and avoid drinking alcohol. Exercise regularly and maintain a good lifestyle.