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Tests and diagnosis
By Mayo Clinic staffIf it's suspected that you have Lynch syndrome, your doctor may ask you questions about your family history of colon cancer and other cancers. This may lead to other tests and procedures to diagnose Lynch syndrome.
Family history
A family history of colon cancer and other cancers, particularly when they occur at a younger age, may alert your doctor to the possibility that you or members of your family may have Lynch syndrome.
Your doctor may refer you for further Lynch syndrome evaluation if you have:
- Multiple relatives with any HNPCC-associated tumor, including colorectal cancer. Other HNPCC-associated tumors are those affecting the endometrium, ovaries, stomach, small intestine, kidney, brain or pancreas and sebaceous tumors of the skin.
- 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
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. If you or someone in your family has been diagnosed with cancer in the last several years, the hospital that provided care may be able to supply a tissue sample. These tissue samples are often stored for many years.
Tumor testing can reveal whether your 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 genes caused the cancer.
- Microsatellite instability (MSI) testing. Microsatellites are sequences of cellular DNA. In people with Lynch syndrome, there may be errors or "instability" in these sequences.
Positive IHC or MSI test results indicate that you have malfunctions in the genes that are connected to Lynch syndrome. But results can't tell you if you have Lynch syndrome or not since some people develop these gene mutations only in their cancer cells. People with Lynch syndrome have these gene mutations in all of their cells. About 15 percent of all colon cancers have a positive MSI result, but most aren't caused by Lynch syndrome. Newer tests can help determine if a tumor is Lynch syndrome related or not.
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.
Results of genetic testing may show:
- A positive genetic test. A positive result, meaning that a gene mutation was discovered, doesn't mean that you're certain to get cancer. But it does mean your lifetime risk of developing colon cancer is increased. How much your risk is increased depends on which gene is mutated in your family and whether you undergo cancer screening to reduce your risk of cancer. Your genetic counselor can explain your individual risk to you based on your results.
- A negative genetic test. A negative result, meaning a gene mutation wasn't found, is more complicated. If other members of your family have Lynch syndrome, but you didn't have the genetic mutation, your risk of cancer is the same as the general population. If you're the first in your family to be tested for Lynch syndrome, a negative result may still indicate that you have a high risk of colon cancer — especially if you have a strong family history of colon cancer or your tumor testing revealed a high likelihood of Lynch syndrome. Genetic testing doesn't always detect the gene mutations that cause Lynch syndrome.
- A gene variation of unknown significance. Genetic tests don't always give you a yes or no answer about your cancer risk. Sometimes your genetic testing reveals a gene variation with an unknown significance. Your genetic counselor can explain the implications of this result with you.
Your genetic counselor can discuss the benefits and risks of genetic testing with you. He or she will explain what genetic testing can tell you and what it can't.
- Genetics of colorectal cancer (PDQ): Health professional version. National Cancer Institute. http://www.cancer.gov/cancertopics/pdq/genetics/colorectal/healthprofessional. Accessed Dec. 16, 2009.
- Lindor NM, et al. Concise handbook of familial cancer susceptibility syndromes. Journal of the National Cancer Institute Monographs. 2008;38:1.
- Lynch HT, et al. Review of the Lynch syndrome: History, molecular genetics, screening, differential diagnosis and medicolegal ramifications. Clinical Genetics. 2009;76:1.
- Lindor NM, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: A systematic review. Journal of the American Medical Association. 2006;296:1507.
- Offit K, et al. Genetic factors: Hereditary cancer predisposition syndromes. In: Abeloff MD, et al. Abeloff's Clinical Oncology. 4th ed. Philadelphia, Pa.: Churchill Livingstone; 2008:180.
- Koornstra JK, et al. Management of extracolonic tumours in patients with Lynch syndrome. Lancet Oncology. 2009;10:400.
- Making sense of your genes: A guide to genetic counseling. National Society of Genetic Counselors. http://www.nsgc.org/client_files/GuidetoGeneticCounseling.pdf. Accessed Dec. 16, 2009.
- Lindor NM (expert opinion). Mayo Clinic, Rochester, Minn. Dec. 19, 2009.
