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LYNCHNOW® - Lynch Syndrome Genetic Testing for Cancer

LYNCHNOW® is a comprehensive screening that rapidly detects mutations that cause Lynch syndrome.

What Is Lynch Syndrome?

Lynch syndrome is an inherited disorder that increases a person’s risk of several cancers. It is associated with developing cancers at an earlier age (before age 50) and affects both men and women. Lynch syndrome is also known as hereditary nonpolyposis colorectal cancer (HNCC). Lynch syndrome is the most common cause of hereditary colorectal cancer.

People with Lynch syndrome are also at a higher risk of other cancers, including:
  • Colorectal (colon) cancer
  • Uterine (endometrial) cancer
  • Ovarian cancer
  • Stomach cancer
  • Kidney cancer
  • Liver cancer
  • Pancreatic cancer
  • Brain cancer
  • Skin cancers

What Causes Lynch Syndrome?

Lynch syndrome is hereditary, meaning it can be passed on from parents to their children.

Lynch syndrome is caused by mutations in certain genes related to DNA mismatch repair—the process that corrects mistakes during DNA replication. These genes normally protect against cancer, but when there is a mutation, they cannot work properly. This increases the risk of developing several types of cancer.

The genes involved in Lynch syndrome include:
  • MLHL
  • MSH2
  • MSH6
  • PMS2
  • EPCAM

How Common Is Lynch Syndrome?

About 1 in every 500 Americans have Lynch syndrome. Lynch syndrome causes about 3% of colorectal cancers and endometrial cancers.

Families with Lynch syndrome have a 50%-80% higher risk of developing colorectal cancer during their lifetimes.

What Are the Symptoms of Lynch Syndrome?

Lynch syndrome refers to the presence of specific genetic mutations and will not cause any symptoms unless the mutation leads to cancer development.

Criteria from the Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer help physicians decide who should have genetic testing for Lynch syndrome. A genetics counselor can help you understand your risk for Lynch syndrome.

Individuals With Cancer
Individuals diagnosed with certain cancers should be tested for Lynch syndrome if they meet the following criteria:
  • Developing either colorectal or endometrial cancer before age 50
  • Developing cancers linked with Lynch syndrome separately or at the same time
  • Developing a tumor with genetic mutations associated with Lynch syndrome

Individuals With a Qualifying Family History
Individuals with a qualifying family history should be tested for Lynch syndrome. Family history should include first-degree relatives (parents, siblings, and children) and second-degree relatives (aunts, uncles, grandparents, grandchildren, nieces, nephews, and half-siblings).
  • A first-degree relative with colon cancer and another cancer associated with Lynch syndrome, with one cancer developing before age 50
  • A first or second-degree relative with another cancer associated with Lynch syndrome

Lynch Syndrome and Breast Cancer

Recent research suggests that people with Lynch syndrome are at a higher risk of developing breast cancer. Many people with Lynch syndrome also qualify for genetic testing for hereditary breast and ovarian syndrome, which is caused by BRCA1 and BRCA2 mutations.

What Are the Benefits of LYNCHNOW®?

Predicting Prognosis for Lynch Syndrome
Lynch syndrome genetic testing gives physicians and genetic counselors more information to predict the prognosis for individuals with Lynch syndrome.

Predicting Therapeutic Response for Lynch Syndrome
Certain drug therapies for cancer may work better on people with specific genetic mutations. Your physician may want you to have genetic testing for colon cancer or other cancers associated with Lynch syndrome to discover more information about how specific treatments will affect your cancer. LYNCHNOW® gives physicians insight into an individual’s genetic mutations to allow them to develop a personalized treatment plan.

Predicting Risk for Lynch Syndrome
LYNCHNOW® gives you more information about your health so you can take action. A positive result does not mean you have cancer but that you have a mutation that puts you at higher-than-average risk of developing certain cancers. Lynch syndrome is hereditary, so you should let family members know if you test positive so they can take steps to prevent cancer.

Awareness of a higher-than-average risk of cancer gives you an opportunity to manage the risk more effectively.

Some things you can do to reduce the risk of cancer include:
  • More frequent colonoscopies starting at a younger age to detect colon cancer
  • Transvaginal ultrasound and endometrial biopsy every one to two years starting at age 30-35 to detect endometrial cancer
  • Blood tests to detect ovarian cancer
  • Yearly urinalysis to detect bladder cancer
  • Earlier screening for pancreatic cancer
  • Yearly prostate cancer screening starting at age 40
  • Frequent screening for symptoms of stomach cancer

How Does LYNCHNOW® Testing Work?

Patient Consult
Speak to your physician or genetic counselor to see if you are a good fit for Lynch syndrome genetic testing with LYNCHNOW®.

Sample Collection
LYNCHNOW® test can be performed using either a blood or saliva sample. A blood sample is collected at a medical facility. A saliva sample can be provided in a physician’s office or at home.

Sample Processing
Your sample is analyzed in a GoPath laboratory.

Results
The LYNCHNOW® report is available in 10 to 14 days.

Test Result Definitions
  • Positive – The test detected a mutation associated with Lynch syndrome. This means you are at a higher-than-average risk of developing cancers associated with Lynch syndrome at an earlier age.
  • Variant of Unknown Significance (VUS) – The test detected a genetic mutation in a gene that scientists don’t know much about yet.
  • Negative – The test did not detect a mutation associated with Lynch syndrome.

References:
  1. https://www.cdc.gov/genomics/disease/colorectal_cancer/lynch.htm
  2. https://www.aerzteblatt.de/int/archive/article/134019
  3. https://www.cancer.net/cancer-types/lynch-syndrome
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2933058/
  5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138356/#:~:text=Conclusion,patients%20(16.5%E2%80%9324.4%25).
  6. https://www.cdc.gov/genomics/disease/colorectal_cancer/medical_options.htm














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