An Overview of Lynch Syndrome

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Lynch syndrome, also known as hereditary non-polyposis colorectal cancer, is a type of hereditary syndrome that places someone at an increased risk of developing cancer. Someone with Lynch syndrome has a significant risk of developing colorectal cancer, according to their genetic makeup. However, these individuals are also susceptible to develop any other type of cancer such as breast, uterine, bowel, pancreatic, and prostate cancer, among others.

If Lynch syndrome does not develop into cancer, there is no body system affected. If colorectal cancer results from Lynch syndrome, an individual’s colon and rectum will develop tumors. Tumors can be either benign (non-cancerous) or malignant (cancerous). If cancer results from Lynch syndrome, the type of cancer will dictate the body system affected first and foremost.

Symptoms

Being that Lynch syndrome is not a disease or condition, rather a trait someone carries on the genetic level, there are no visible symptoms to the physical body.

Someone with Lynch syndrome may possess signs, though, such as:

  • The development of colorectal or uterine cancer before the age of 50
  • A history of colorectal cancer in more than one parent, sibling, or child before the age of 50
  • A history of colorectal cancer in more than two first-degree or second-degree relatives (including aunts, uncles, grandparents, grandchildren, nephews, and nieces)
  • At least two generations affected by cancer due to Lynch syndrome

Causes

Lynch syndrome is typically caused by one mutation to MLH1, MSH2, MSH6, PMS2, and EPCAM genes. While this is one of the primary causes of Lynch syndrome, these mutations are not present in everyone with Lynch syndrome. This makes it essential to receive regular genetic testing and cancer screening in order to stay vigilant of potential cancer diagnoses.

There are other potential causes which pertain directly to the development of colorectal cancer. Being mindful of these causes and their potential to impact your health is the best course of action in living with a Lynch syndrome mutation.

It is important to understand that the possession of this gene mutation places someone at an increased risk for developing cancer. A diagnosis of cancer will not develop in all individuals who have Lynch syndrome.

As with any individual, a healthy lifestyle should be central in the cancer prevention efforts. This will provide an individual with the best chance of lowering their risk of developing cancer, despite the presence of a mutation.

Diagnosis

It is estimated 1 in 300 people are carriers of these mutated genes which predispose someone to develop cancer. It is recommended that individuals are formally tested for Lynch syndrome. However, it is possible to determine the likelihood of a family carrying the gene for Lynch syndrome due to patterns of cancer development.

For example, it can be predicted there is Lynch syndrome in a family where multiple people have been diagnosed with colorectal cancer and/or uterine cancer. Uterine cancer, or endometrial cancer, commonly occurs in females who carry the Lynch syndrome gene. About 4,000 colorectal cancer cases and 1,800 uterine cancer cases develop from Lynch syndrome each year. These numbers account for 3% to 5% of all colorectal cancer cases, and 2% to 3% of all uterine cancer cases yearly.

Tests used to diagnose/screen for Lynch syndrome include:

  • Blood test: The most definitive way to diagnose Lynch syndrome is through a blood test which can identify the potential of a gene mutation.
  • Microsatellite instability testing (MSI): This test can determine whether a potential tumor has high or low microsatellite instability. High instability indicates the tumor was caused by a mutation related to Lynch syndrome.
  • Immunohistochemistry test (IMH): Individuals with Lynch syndrome can also use an immunohistochemistry test to analyze the proteins inside of the tumor. This analysis will indicate whether proteins are missing, which often points toward the presence of Lynch syndrome.

It is recommended that genetic testing is completed after these two specific tests, in order to give credibility to initial results which may or may not indicate Lynch syndrome.

Treatment

There is no treatment for Lynch syndrome itself due to the absence of physical symptoms and/or a cancer diagnosis. There is also no treatment for the genetic mutations which cause someone to be diagnosed with Lynch syndrome.

Treatment will only relate to a diagnosis of cancer if this develops in an individual with Lynch syndrome. Cancer-specific treatment includes radiation, chemotherapy, surgery, immunotherapy, and other methods which vary depending on the severity of cancer and the body parts which are affected.

Prevention

While Lynch syndrome itself cannot be treated or prevented, the prevention of cancer is the best way to manage this condition from the earliest time of diagnosis.

There are prevention methods specific to colorectal cancer and uterine cancer. There are also general prevention and screening methods which can assist in early diagnosis and maximize the chances for recovery and remission.

Once an individual with Lynch syndrome reaches 20 years of age, regular cancer screening options are recommended. Cancer screening includes:

  • Receiving yearly colonoscopies
  • Endoscopies to the upper gastrointestinal tract every three to five years
  • Self-skin checks and regular skin examinations
  • Yearly pelvic examinations with ultrasounds and biopsies as needed

Some professionals recommend a daily dose of aspirin to specifically assist in decreasing a person’s risk for colorectal cancer, which is one of the primary concerns for someone with Lynch syndrome. This has been proven as somewhat effective making it not yet accepted as a standard practice by every doctor.

Many individuals who are diligent enough to find colorectal cancer in its early stages often opt to remove portions of the colon to prevent recurrence of cancer.

Yearly urine tests are routine parts of physical examinations, and these should be done regularly to monitor the presence of Lynch syndrome.

A healthy lifestyle also remains a core method to prevent any type of disease, including cancer. This includes refraining from excessive alcohol intake, recreational drugs, smoking, getting physical exercise, and maintaining a healthy diet.

A Word From Verywell

While it may be difficult to adjust to the possibility of developing cancer, it is best to maintain a healthy lifestyle to prevent any chronic condition from developing.

If you find the possibility of being diagnosed with cancer is too difficult to handle, you may want to consult your doctor about options for your mental health. Support groups, stress management, meditation, yoga, productive leisure activities, and social interaction can assist with maintaining a positive outlook about your lifestyle. Consult your doctor with any concerns about preventing cancer or leading a healthy lifestyle.

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