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Lynch Syndrome Panel

Lynch Syndrome Panel

Overview

Lynch syndrome, also called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited condition that can increase your risk of developing colon cancer, endometrial (uterine) cancer, and several other cancers. It is associated with harmful (pathogenic or likely pathogenic) variants of mismatch repair genes. Lynch syndrome genetic testing evaluates multiple genes associated with Lynch syndrome for such variants.

Lynch syndrome is the most common cause of inherited colon cancer and is responsible for about 3-5% of all cases of colorectal cancer. It also increases the risk of other types of cancers, such as endometrial cancer, stomach cancer, ovarian cancer, and pancreatic cancer. (For more details, read the article on Lynch Syndrome.)

DNA errors can occur when DNA is copied as cells grow and divide. Normally, DNA errors are fixed by the mismatch repair system. With Lynch syndrome, there is a change in one of the repair genes that prevents the mismatch repair system from working properly. The system is not able to fix DNA errors, which then start to accumulate within the cell. Eventually, the cells with these accumulated DNA errors can begin to grow and divide uncontrollably, which may lead to cancer.

Lynch syndrome genetic tests are blood tests that identify the specific mismatch repair gene variants that are associated with the disorder. If you are diagnosed with colon cancer, endometrial cancer, or another cancer suspicious for Lynch syndrome, this testing can determine whether a pathogenic variant in a mismatch repair gene is the likely cause.

If you have genetic testing done because a family member has been tested for Lynch syndrome and a pathogenic variant was identified, then the results can tell you if you have inherited the same gene variant. Not everyone with a gene variant associated with Lynch syndrome will develop cancer, but if you have a pathogenic variant, you have an increased risk of cancer over your lifetime compared to the general population. You may benefit from working with your healthcare practitioner to increase the frequency of your cancer screenings like colonoscopies.

The mismatch repair genes associated with Lynch syndrome that may be tested include:

MLH1 MSH2 MSH6 PMS2 EPCAM There are a few different ways that the genetic variants may be tested. The approach that is used depends upon what is already known.

Multi-gene panel testing ? this approach uses DNA sequencing to evaluate MLH1, MSH2, MSH6, PMS2, and EPCAM genes all at the same time for pathogenic variants. This panel may be ordered if your healthcare provider suspects Lynch syndrome but it is not clear which of the mismatch repair genes may be affected, so all of them are tested. This approach is commonly used when a familial pathogenic variant has not already been identified in your family. Sometimes, genes associated with other syndromes that increase your risk for developing cancer may be included on a panel and tested at the same time, since there are other less common conditions that are similar to Lynch syndrome. Single gene sequencing with deletion/duplication analysis ? this type of testing evaluates the DNA sequence of a single mismatch repair gene and looks for pathogenic variants either in the sequence itself or caused by missing or extra sections of DNA. This test may be ordered if a sample of your tumor has already been tested and a deficiency in a certain mismatch repair gene is suspected. Targeted testing ? this method tests a single mismatch repair gene when someone in your family has been diagnosed with Lynch syndrome and the gene variant has already been identified. It only looks for the specific variant found in your family member(s).

Preparation(Before)

None

Report delivery time

Reporting times are typical, but could be extended in situations outside GeneDx?s .Risks of Lynch syndrome cancers for MSH6 mutation carriers. Genetic testing by cancer site: colon (polyposis syndromes).

Result explanation

If you have been diagnosed with cancer and genetic testing identifies a pathogenic variant of one of the mismatch repair genes, then you have Lynch syndrome and the variant identified is likely associated with your cancer.

If you have been identified as having the same gene variant as a family member with Lynch syndrome, then you will have an increased lifetime risk of cancer and a 50% chance of passing this variant on to your children. People who have a pathogenic variant in MLH1 or MSH2 tend to have a greater number of Lynch syndrome-related cancers than those with other gene variants.

If you have a pathogenic variant, you do have an increased risk of Lynch-syndrome related cancers, but it doesn't mean you will definitely develop cancer. Some people with a pathogenic variant in a Lynch syndrome gene never develop cancer.

If testing does not identify a pathogenic gene variant associated with Lynch syndrome, then it is likely that you do not have the inherited condition. If you have been tested for a known familial pathogenic variant that caused Lynch syndrome in a relative and you test negative for that variant, your risk for Lynch syndrome-related cancer is likely significantly reduced. However, just like any test, a negative result does not completely rule out the possibility that you have Lynch syndrome. Your healthcare provider or genetic counselor will help you interpret the meaning of your test result. If you have been diagnosed with cancer and genetic testing identifies a pathogenic variant of one of the mismatch repair genes, then you have Lynch syndrome and the variant identified is likely associated with your cancer.

If you have been identified as having the same gene variant as a family member with Lynch syndrome, then you will have an increased lifetime risk of cancer and a 50% chance of passing this variant on to your children. People who have a pathogenic variant in MLH1 or MSH2 tend to have a greater number of Lynch syndrome-related cancers than those with other gene variants.

If you have a pathogenic variant, you do have an increased risk of Lynch-syndrome related cancers, but it doesn?t mean you will definitely develop cancer. Some people with a pathogenic variant in a Lynch syndrome gene never develop cancer.

If testing does not identify a pathogenic gene variant associated with Lynch syndrome, then it is likely that you do not have the inherited condition. If you have been tested for a known familial pathogenic variant that caused Lynch syndrome in a relative and you test negative for that variant, your risk for Lynch syndrome-related cancer is likely significantly reduced. However, just like any test, a negative result does not completely rule out the possibility that you have Lynch syndrome. Your healthcare provider or genetic counselor will help you interpret the meaning of your test result

Common uses

Lynch syndrome genetic testing is used to help determine if you have inherited a harmful gene variant (pathogenic or likely pathogenic variant) in one of the mismatch repair genes associated with Lynch syndrome. This may be done to:

Help diagnose Lynch syndrome and identify the specific gene variant that is the probable cause Determine if you have a gene variant that has already been identified in one of your family members who has Lynch syndrome; if you have a pathogenic variant, you have an increased risk of developing colon cancer, endometrial cancer or another cancer

Customer support

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You can also call us at 9503472446 or email us at customercare@ihealthmantra.com or chat with our customer support."

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