Bay Biosciences provides fresh frozen tumor tissue samples with matching (-80°) serum, plasma, peripheral blood mononuclear cells (PBMC) biofluid samples with matching FFPE Blocks from unique patients diagnosed with Lynch Syndrome or Hereditary Nonpolyposis Colorectal Cancer (HNPCC).
Lynch Syndrome (HNPCC) Overview
Lynch syndrome or Hereditary Nonpolyposis Colorectal Cancer (HNPCC) is an inherited disorder, cancer syndrome associated with a genetic predisposition to different cancer types. This means people with Lynch syndrome have a higher risk of certain types of cancer. HNPCC increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, breast, ovarian, small intestine (small bowel), pancreatic, prostate, liver, gallbladder ducts, upper urinary tract, kidney, brain, bile duct and skin.
Women patients with Lynch syndrome or HNPCC have high risk of ovarian cancer and lining of the uterus the endometrium cancer.
Lynch syndrome is among the most common hereditary cancer syndromes, and estimates suggest as many as 1 in every 300 people may be carriers of an alteration in a gene associated with Lynch syndrome. Clues to whether there is Lynch syndrome in a family include diagnoses of colorectal and/or endometrial cancer in multiple relatives on the same side of a family. In addition, cancers associated with Lynch syndrome are more likely to be diagnosed at a young age. Patients with Lynch syndrome are also at an increased risk of developing multiple types of cancers during their lifetime.
Lynch Syndrome (HNPCC) Signs and Symptoms
Patients with Lynch syndrome may experience the following symptoms:
- Hereditary non-polyposis colorectal cancer (HNPCC) may not present with any symptoms (asymptomatic).
- Despite the name, hereditary non-polyposis colorectal cancer (HNPCC) does cause the formation of polyps but far fewer than seen in familial adenomatous polyposis. These polyps are generally not cancerous at first but can become cancerous within two to three years.
- Developing colorectal or endometrial cancer younger than age 50 (average age of onset 44).
- Developing colorectal cancer, endometrial cancer, or other type of cancers with mismatch repair deficiency (MMR-D) or high-level microsatellite instability (MSI-H) found on testing of the tumor specimen.
- Female patients have a significantly higher risk of endometrial and ovarian cancer (39 and 9 per cent respectively, by the age of 70).
- Developing colorectal cancer and other types of cancers linked with Lynch syndrome separately or at the same time.
- The lifetime risk of hereditary non-polyposis colorectal cancer patients developing colorectal cancer is estimated to be about 70 to 80 per cent.
- Colorectal cancer in 1 or more first-degree relatives who also has or has had another Lynch syndrome-related cancer, with 1 of these cancers developing before age 50. The phrase first-degree relatives include parents, siblings, and children.
- Colorectal cancer in 2 or more first- or second-degree relatives with another Lynch syndrome-related cancer. Second-degree relatives include aunts, uncles, grandparents, grandchildren, nephews, and nieces.
Lynch syndrome related cancer category includes colorectal cancer, endometrial cancer, ovarian cancer, stomach cancer, small bowel cancer, ureter or renal pelvis cancer, bladder cancer, bile duct cancer, pancreatic cancer, or sebaceous adenomas of the skin.
Causes of Lynch Syndrome (HNPCC)
Lynch syndrome runs in families in an autosomal dominant inheritance pattern. This means that if one parent carries a gene mutation for Lynch syndrome, there’s a 50 percent chance that mutation will be passed on to each child. The risk of Lynch syndrome is the same whether the gene mutation carrier is the mother or father or whether the child is a son or daughter.
Lynch syndrome is a genetic condition. This means that the cancer risk can be passed from generation to generation in a family. These types of mutations are called inherited, or germline, mutations. Alterations in several genes involved in DNA mismatch repair that have been linked to Lynch syndrome. They include the genes of MLH1, MSH2, MSH6, PMS2, and EPCAM. A mutation (alteration) in any of these genes gives a person an increased lifetime risk of developing colorectal cancer and other related cancer. Women also have an increased risk of developing endometrial and ovarian cancers.
Not all families that appear to have Lynch syndrome will have identifiable alterations in MLH1, MSH2, MSH6, PMS2, or EPCAM. Research is ongoing to identify other genes associated with Lynch syndrome. Some people will develop changes in these genes that are not inherited but occur due to the body’s aging process and other causes that are not well understood. These types of mutations are called acquired. If a tumor is found to have alterations in these genes, the person’s blood will also be tested for that abnormal gene. If the blood and tumor both have the changed gene, the condition is inherited rather than acquired, meaning other family members could be affected.
Diagnosis of Lynch Syndrome (HNPCC)
Patients suspected to have Lynch syndrome (HNPCC), usually have the family history of colon cancer, endometrial cancer and other cancers. This may lead to further clinical investigation, other tests and procedures to diagnose Lynch syndrome (HNPCC).
Family History
Your doctor may refer you for further Lynch syndrome (HNPCC) evaluation if you have:
- Multiple relatives with any Lynch-associated tumors, including colorectal cancer. Examples of other Lynch (HNPCC)-associated tumors include those affecting the endometrium, ovaries, stomach, small intestine, kidney, brain or liver.
- Family members diagnosed with cancer at ages that are younger than the average for their type of cancer.
- More than one generation of family affected by a type of cancer.
Tumor Testing
Once the patient has been diagnosed with cancer, a special histology testing may reveal whether the tumor has specific characteristics, microscopic anatomy of Lynch syndrome (HNPCC) cancers. Samples of cells from a colon cancer, and sometimes from other tumors can be used for tumor histology testing.
Tumor testing can reveal whether the cancer was caused by the genes related to Lynch syndrome. Tumor tests include:
- Immunohistochemistry (IHC) testing: IHC testing uses special dyes to stain tissue samples. The presence or absence of staining indicates whether certain proteins are present in the tissue. Missing proteins may tell doctors which mutated gene caused the cancer.
- Microsatellite instability (MSI) testing. Microsatellites are sequences of DNA. In patients with Lynch syndrome, there may be errors or instability in these sequences in the tumor cells.
Positive immunohistochemistry (IHC) or microsatellite instability (MSI) genetic test results indicate that there are malfunctions in the genetic that are connected to Lynch syndrome (HNPCC). But the results cannot confirm Lynch syndrome (HNPCC) because some patients develop these genetic mutations only in their cancer cells. Patients with Lynch syndrome have these genetic mutations in all of their cells. Genetic testing can determine whether the patient has these mutations.
More frequently immunohistochemistry (IHC) or microsatellite instability (MSI) testing is being offered to patients diagnosed with colon cancer or endometrial cancer to look for Lynch syndrome (HNPCC). Doctors hope this will help identify and preempt families with Lynch syndrome (HNPCC) that don’t meet the usual criteria for genetic testing.
Genetic Testing
Genetic testing looks for changes in the genes that indicate weather a patient have Lynch syndrome (HNPCC). You may be asked to give a sample of your blood for genetic testing. Using special laboratory analysis, doctors look at the specific genes that can have mutations that cause Lynch syndrome (HNPCC).
Genetic testing may show the following:
- A positive genetic testing result: A positive genetic test result, meaning that a gene mutation was discovered, doesn’t indicate that you have cancer or will get cancer. But it does mean that your lifetime risk of developing certain cancers is high.The increased high risk depends on which specific gene is mutated in your family and whether you undergo cancer screening or risk-reducing procedures to decrease your risk of cancer. Usually a genetic counselor can explain your individual’s risk of developing certain cancers based on the results.
- A negative genetic test result: A negative genetic test result means that a gene mutation wasn’t found, indicates that you likely don’t have Lynch syndrome (HNPCC). You may still have an increased risk of cancer, if you have a strong family history of cancer.
- A gene variation of unknown significance: Genetic tests don’t always give you a yes or a no answer about the cancer risk. Sometimes genetic testing reveals a gene variation with an unknown significance. Your genetic counselor can explain the implications of this result to you.
Sometimes genetic testing for Lynch syndrome (HNPCC) is part of a test for multiple cancer-related genetic mutations. Your genetic counselor can discuss the benefits and risks of genetic testing with you. He or she can explain what genetic testing can tell you and what it can’t.
Lynch syndrome can be confirmed through a blood test. The test can determine if someone carries a mutation that can be passed down (called heritable) in one of the genes associated with Lynch syndrome. Currently, testing is available for the MLH1, MSH2, MSH6, PMS2 and EPCAM genes. However, not all families with Lynch syndrome will have an identifiable mutation in one of these genes.
Screening tests can also be performed on tumor (cancer) tissue to determine if Lynch syndrome is likely. The two screening tests suggested are microsatellite instability testing (MSI) and immunohistochemistry testing (IHC). The results of these tests can indicate whether more specific genetic testing should be considered.
Detailed clinical data and pathology annotations including patient’s corresponding diagnostic test values are provided to a valued pharmaceutical customer for research and drug discovery.
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