Lynch syndrome is an inherited condition that increases your risk of colon cancer, endometrial cancer and several other cancers. Lynch syndrome has historically been known as hereditary nonpolyposis colorectal cancer (HNPCC).
A number of inherited syndromes can increase your risk of colon cancer or endometrial cancer, but Lynch syndrome is the most common. Doctors estimate that around 3 out of every 100 colon cancers or endometrial cancers are caused by Lynch syndrome.
Families that have Lynch syndrome usually have more instances of colon cancer or endometrial cancer than would typically be expected. Lynch syndrome also causes cancers to occur at an earlier age than they might in the general population.
Source: http://www.mayoclinic.com
People with Lynch syndrome may experience:
If you have concerns about your family history of colon or endometrial cancer, bring them up with your doctor. Together, you and your doctor may consider having a genetic evaluation of your family history and your cancer risk.
If a family member has been diagnosed with Lynch syndrome, tell your doctor. Ask to be referred to a genetic counselor. Genetic counselors are trained in genetics and counseling. They can help you understand Lynch syndrome, what causes it and what type of care is recommended for people who have Lynch syndrome. A genetic counselor can also help you sort through all the information about the disease and help you understand whether genetic testing is appropriate for you.
Source: http://www.mayoclinic.com
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.
The genes affected in Lynch syndrome are responsible for correcting changes in the genetic code (mismatch repair genes).
Your genes contain DNA, which carries instructions for every chemical process in your body. As your cells grow and divide, they make copies of their DNA and it's not uncommon for some minor mistakes to occur.
Normal cells have mechanisms to recognize mistakes and repair them. But the cells of people who inherit one of the abnormal genes associated with Lynch syndrome lack the ability to repair these minor mistakes. An accumulation of these mistakes leads to increasing genetic damage within cells and eventually can cause the cells to become cancerous.
Source: http://www.mayoclinic.com
If it's suspected that you have Lynch syndrome, your doctor may ask you questions about your family history of colon cancer, endometrial cancer and other cancers. This may lead to other tests and procedures to diagnose Lynch syndrome.
Your doctor may refer you for further Lynch syndrome evaluation if you have:
If you or someone in your family has been diagnosed with cancer, special testing may reveal whether the tumor has specific characteristics of Lynch syndrome cancers. Samples of cells from a colon cancer and sometimes from other tumors can be used for tumor testing.
Tumor testing can reveal whether your cancer was caused by the genes related to Lynch syndrome. Tumor tests include:
Positive IHC or MSI test results indicate that you have malfunctions in the genes that are connected to Lynch syndrome. But the results can't tell you whether you have Lynch syndrome because some people develop these gene mutations only in their cancer cells.
People with Lynch syndrome have these gene mutations in all of their cells. Genetic testing can determine whether you have these mutations.
Increasingly, IHC or MSI testing is being offered to anyone diagnosed with colon cancer or endometrial cancer to look for Lynch syndrome. Doctors hope this will help identify families with Lynch syndrome that don't meet the usual criteria for genetic testing.
Genetic testing looks for changes in your genes that indicate that you have Lynch syndrome. 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.
Genetic testing may show:
A positive genetic test result. A positive 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 increased.
How much your risk is increased depends on which gene is mutated in your family and whether you undergo cancer screening or risk-reducing operations to decrease your risk of cancer. Your genetic counselor can explain your individual risk to you based on your results.
Sometimes genetic testing for Lynch syndrome 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.
Source: http://www.mayoclinic.com
Beyond causing complications for your health, a genetic disorder such as Lynch syndrome may raise other concerns. A genetic counselor is trained to help you navigate the areas of your life that may be affected by your diagnosis, such as:
Source: http://www.mayoclinic.com
Knowing that you or your family members have an increased risk of cancer can be stressful. Helpful ways to cope might include:
Source: http://www.mayoclinic.com
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