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Lynch Syndrome


Disease: Lynch Syndrome Lynch Syndrome
Category: Genetic Diseases
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Disease Definition:

Also called hereditary nonpolyposis colorectal cancer (HNPCC), lynch syndrome is a rare inherited condition that increases someone’s risk of colon cancer. Lynch syndrome is the most common condition that increases the risk of colon cancer despite the fact that there are other inherited syndromes that could increase that risk. Lynch syndrome is thought to cause 2 to 3% of colon cancers.

Lynch syndrome causes the occurrence of colon cancer earlier than it might in the general population. Also, families that have Lynch syndrome have more cases of colon cancer than expected.

Work Group:

Prepared by: Scientific Section

Symptoms, Causes


Some of the signs and symptoms of Lynch syndrome may be:


  • A family history of colon cancer that occurs at a young age
  • A family history of endometrial cancer
  • Colon cancer that occurs at a younger age,  before 45
  • A family history of other related cancers such as stomach cancer, liver cancer, kidney cancer, ovarian cancer, small bowel cancer and other cancers.


In case a parent carries a gene mutation for Lynch syndrome, there will be a 50% chance that the mutation will be passed on to each child because Lynch syndrome runs in families in an autosomal dominant inheritance pattern.

The genetic material that contains instructions for every chemical process in the body is known as DNA. The defective genes inherited in Lynch syndrome are responsible for correcting mistakes in DNA. The cells make copies of their DNA as they grow and divide. During this process, some minor mistakes could occur. Normal cells have mechanisms that recognize these mistakes and repair them. However, people will lack the ability to repair these minor mistakes in case they inherit one of the abnormal genes associated with Lynch syndrome. The genetic damage within the cells could increase and cause the cells to become cancerous if these mistakes become accumulated.



A genetic disorder such as Lynch syndrome could cause many complications for someone’s health in addition to other problems. A genetic counselor could guide the patient through all the areas of their life that are affected by this disorder.

In case someone has Lynch syndrome, their children will have a risk of inheriting the genetic mutations for Lynch syndrome. Each child will have a 50% chance of inheriting mutations in case one parent has them.


Surgery for colon cancer that is associated with Lynch syndrome will involve the removal of more of the colon because people with Lynch syndrome have a higher risk of developing additional colon cancer in the future. Other than that, colon cancer that is associated with Lynch syndrome is treated in the same way as other colon cancers. Depending on the stage and location of the cancer, as well as the patient’s own health and personal preferences, the treatment method will be decided. Chemotherapy, radiation therapy and surgery are some of the available options.

The doctor will develop a cancer-screening plan for someone that they should stick to in case they have Lynch syndrome but haven't been diagnosed with an associated cancer. This screening will be quite helpful in finding tumors at their earliest stages, when they are more likely to be cured.

A person may be recommended some of the following as a part of their cancer-screening plan:

Colon cancer screening:
This method is called a colonoscopy exam, which will allow the doctor to see the patient’s whole colon and search for an abnormal growth that may indicate cancer. The patient will receive a sedative during this exam to help them become more comfortable. During this exam, a long, flexible tube will be inserted into the patient’s rectum, and images will be transmitted to a video screen by the camera placed at the end of the tube. This will help the doctor see the inside of the colon.
Usually, starting in their 20s, people with Lynch syndrome have this exam every other year. When they reach 30, they may be recommended undergoing this exam every year.

Ovarian cancer screening:
In case someone has Lynch syndrome, they may be recommended an annual ultrasound examination. Changes in the ovaries that may indicate cancer could be detected by comparing annual ultrasound images. To know exactly when someone needs to begin ovarian cancer screening, they should talk to their doctor.

Endometrial cancer screening:
Beginning in their 30s, women with Lynch syndrome may have endometrial biopsy every year to screen for cancer. During this procedure, a small piece of tissue will be removed from the uterus, which will be examined to look for changes in the cells indicating cancer.

Gastrointestinal cancer screening:
Beginning in their 30s, someone may be recommended screening for stomach cancer and small intestine cancer in case their family has a history of gastrointestinal cancers associated with Lynch syndrome. The doctor could see the person’s stomach and other parts of the gastrointestinal system via an endoscopy procedure, during which he will look for unusual areas that could indicate cancer.

Urinary system cancer screening:
A person may be recommended annual screening for urinary system cancers in case their family has a history of this cancer related to Lynch syndrome. If there are any cancerous cells, they could be revealed by an analysis of a urine sample.
In case someone’s family has a history of other cancers, he/she may be recommended other cancer-screening tests.

Some people may choose to have surgery to prevent cancer in the future. They could have a surgery to remove their colon in case they have an increased risk of colon cancer, or if they aren't able to comply with the need for frequent cancer screenings. However, they should discuss the pros and cons of this surgery with their doctor because every surgery has its risks.

Some of the surgical options that prevent cancer may include:

A person’s chances of developing colon cancer will be eliminated if they undergo this surgery, in which their entire colon will be removed. Even though some people prefer the peace of mind, little evidence exists to show that removing the colon has any advantages over frequent cancer screening, in terms of helping the person live longer.
There is yet another surgery, in which the entire colon is removed and the small intestine is attached to the rectum (ileorectal anastomosis), which will allow the person to expel waste normally. A person could discuss their surgical options with a surgeon.

Oophorectomy and hysterectomy:
A woman’s chances of developing endometrial cancer will be eliminated if she undergoes this preventive surgery, in which her uterus will be removed. A woman’s risk of ovarian cancer will also be reduced if she undergoes surgery to remove her ovaries. In case a woman is considering this surgery, she may wait until she's in her 30s, or until she's done having children because this procedure makes it impossible for her to become pregnant.


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