What Organs Are Affected by Lynch Syndrome?

The life expectancy of individuals with Lynch syndrome can vary depending on their specific genetic mutations and the type and stage of cancer they develop.

Lynch syndrome is associated with an increased risk of cancer, especially cancer of the digestive system.

Various organs are affected by Lynch syndrome, such as:

What is Lynch syndrome?

• Lynch syndrome accounts for about 3% of all colorectal cancer cases and 1-2% of endometrial cancer cases.
• It is estimated to affect about 1 in 280 to 440 people. This number is likely underestimated because many individuals with Lynch syndrome have not been diagnosed or identified.

The life expectancy of individuals with Lynch syndrome can vary depending on their specific genetic mutations and the type and stage of cancer they develop. Some people with Lynch syndrome may have a normal life expectancy if they receive appropriate monitoring and management of their cancer risk.

To know the life expectancy of a specific case of Lynch syndrome, consult a genetic counselor or healthcare professional.

What are the symptoms of Lynch syndrome?

Lynch syndrome may increase the risk of certain types of cancer, but it does not typically cause specific symptoms. Certain symptoms may appear when cancer has advanced.

Some common symptoms of cancer associated with Lynch syndrome include:

• Abdominal pain or discomfort
• Blood in the stool or rectal bleeding
• Unexpected weight loss
• Fatigue
• Nausea or vomiting
• Constipation or diarrhea
• Loss of appetite
• Rectal or abdominal mass
• Uterine bleeding
• Pelvic pain
• Abdominal bloating
• Jaundice in case of liver cancer
• Back pain in case of kidney cancer

What are the causes of and risk factors for Lynch syndrome?

Lynch syndrome is caused by mutations in genes involved in the DNA mismatch repair system.

The most common genes associated with Lynch syndrome include:

These genes repair mistakes that occur during DNA replication, but when mutated, the mistakes are not repaired, increasing the risk of cancer.

Most cases of Lynch syndrome are inherited in an autosomal dominant pattern, meaning an individual has a 50% chance of inheriting the mutation from an affected parent. In some cases, Lynch syndrome can occur as a new mutation or spontaneously without inheritance.

Risk factors for Lynch syndrome:

The main risk factor for Lynch syndrome is having a family history of the disorder.

Some specific risk factors for Lynch syndrome include:

• Personal history of colorectal, endometrial, or other Lynch-associated cancer at a young age (usually younger than 50 years)
• Having multiple Lynch-associated cancers in the same individual or a first-degree relative
• Having a first-degree relative with Lynch syndrome
• A first-degree relative with a Lynch-associated cancer
• Having multiple primary cancers or a combination of Lynch-associated cancers
• Ashkenazi Jewish ancestry
• Finding Lynch syndrome genetic mutations in a blood relative

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How is Lynch syndrome diagnosed?

Lynch syndrome is typically diagnosed through genetic testing, medical history, and physical examination.

Methods to diagnose Lynch syndrome include:

• Genetic testing: A blood or saliva sample is examined to identify mutations in genes associated with Lynch syndrome (MLH1, MSH2, MSH6, and PMS2).
• Tumor testing: Tumor tissue from a person with Lynch syndrome often has specific genetic changes that can be identified through testing. This is called microsatellite instability testing or immunohistochemistry testing.
• Cancer screening: People with Lynch syndrome are usually recommended to undergo regular cancer screenings at a young age, such as colonoscopy and endometrial biopsy, to detect cancer at an early stage.
• Clinical criteria: Certain clinical criteria have been developed to help identify people who may have Lynch syndrome, such as the Amsterdam criteria, revised Bethesda criteria, and Lynch syndrome consensus guidelines.

What are the treatment options for Lynch syndrome?

The treatment options for Lynch syndrome mainly focus on managing the risk of cancer and early detection of cancer.

Treatment options for Lynch syndrome include:

• Cancer screenings and surveillance: Helps detect cancer early or prevent cancer from developing. This may include regular cancer screenings, imaging tests, and blood tests.
• Prophylactic surgery: Reduces the risk of certain types of cancer by removing the colon or uterus.
• Chemoprevention: Medications reduce the risk of cancer. For example, aspirin is sometimes used to reduce the risk of colorectal cancer.
• Lifestyle changes: Maintaining a healthy diet and regularly exercising can reduce the risk of cancer in people with Lynch syndrome.
• Genetic counseling: Helps determine the inherited nature of the disorder, the risk of certain types of cancer, and options for cancer surveillance and risk reduction.

The treatment plan for Lynch syndrome depends on specific gene mutations, family history, and other factors. A multidisciplinary team, including genetic counselors, oncologists, and other healthcare providers, will work together to develop the best treatment plan.

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What is the life expectancy of someone with Lynch syndrome?

People with Lynch syndrome are at an increased risk of colorectal, endometrial, gastric, pancreatic, and other types of cancer at a younger age than the general population.

• About 90% of people with colorectal cancer who have Lynch syndrome were still alive after 5 years
• 80% were still alive after 10 years and 70% were still alive after 15 years

The rate of metachronous tumors (two or more independent primary tumors) was 10-30% at up to 15 years.

However, the life expectancy of someone with Lynch syndrome can vary widely depending on factors such as the type and frequency of cancer they develop, their overall health, and the effectiveness of treatment. With proper monitoring and treatment, many individuals with Lynch syndrome can lead wholesome and healthy lives.

What types of cancer are linked to Lynch syndrome?

Lynch syndrome is a genetic condition that increases the risk of several types of cancer.

The most common types of cancer associated with Lynch syndrome include:

• Colorectal cancer

• One of the most common types of cancer associated with Lynch syndrome. People tend to develop it at a younger age than the general population.
• People with Lynch syndrome should undergo regular colorectal cancer screening, typically starting at a younger age and more frequently than the general population. This can include tests such as colonoscopy, stool tests, imaging tests, and other screening and surveillance methods recommended by the doctor.
• Endometrial cancer

• A type of cancer that affects the lining of the uterus and is one of the most common types of cancer associated with Lynch syndrome.
• Regular endometrial cancer screening is important for women with Lynch syndrome, typically starting at a younger age and more frequently than the general population. This can include pelvic exams, ultrasound, biopsy, and other screening methods recommended by the doctor.
• Gastric cancer

• A type of cancer that affects the lining of the stomach. It is also known as stomach cancer and is one of the types of cancer associated with Lynch syndrome.
• Regular gastric cancer screening is important for people with Lynch syndrome, typically starting at a younger age and more frequently than the general population. This can include upper endoscopy, biopsy, and other tests, as well as other screening methods recommended by the doctor.
• Pancreatic cancer

• A type of cancer that affects the pancreas and is one of the types of cancer associated with Lynch syndrome.
• Regular pancreatic cancer screening is important for people with Lynch syndrome, typically starting at a younger age and more frequently than the general population. This can include imaging tests, such as CT scans and MRI, as well as other screening methods recommended by the doctor.
• Ovarian cancer

• A type of cancer that affects the ovaries and is one of the types of cancer associated with Lynch syndrome.
• Regular ovarian cancer screening is important for women with Lynch syndrome, typically starting at a younger age and more frequently than the general population. This can include transvaginal ultrasound, CA-125 blood test, and other screening methods recommended by the doctor.

Early detection and treatment of cancer in Lynch syndrome are crucial, as they can significantly improve the chances of successful treatment and long-term survival.

In addition to regular cancer screening, people with Lynch syndrome may also benefit from lifestyle changes and other risk-reduction strategies to lower their risk of cancer, such as maintaining a healthy diet, regular exercise, quitting smoking, and avoiding excessive alcohol consumption.