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A woman is at increased risk for ovarian cancer if she has Lynch syndrome, also called hereditary nonpolyposis colon cancer (HNPCC). Having this syndrome increases a woman's risk of having ovarian and uterine cancer at a much younger age than usual.
A clinical diagnosis of Lynch syndrome is made when the following characteristics are present in a family:
Three or more relatives with HNPCC-related cancer (colorectal, endometrial, ovarian, small bowel, stomach, liver, brain, upper respiratory tract, skin, prostate, gallbladder ducts, ureter, or renal pelvis)
Cancer affecting at least 2 successive generations
At least 1 case of HNPCC-related cancer diagnosed under age 50
A diagnosis of familial adenomatous polyposis has been ruled out
Some families with mutations in HNPCC-related genes may be tested even though they may not have all of the above characteristics. Genetic testing for Lynch syndrome should only be done after you and your doctor feel sure that it is the best thing for you and your family. It should be done by an expert counselor who can help you understand the results and what they may mean to you and your family.
The majority of Lynch syndrome cases are caused by mutations in 1 of several mismatch-repair genes. These mismatch-repair genes help correct "spelling errors" in DNA that happen during the cell division process. When these genes are altered, or mutated, then the "spelling errors" in the DNA cannot be repaired.
These errors in the DNA can lead to uncontrolled cell growth, which causes cancer. In Lynch syndrome, the germline mutation may be inherited from either the mother or the father and is present in all cells of the body. Whether a person who is born with a germline mutation will develop cancer, when he or she will develop cancer, and where the cancer(s) will appear depends on if and where (which cell type) a second mutation occurs. For example, if the second mutation is in the colon, then colon cancer may develop. If it is in the ovary, then ovarian cancer may develop. The process of tumor development actually requires mutations in multiple genes that regulate cell growth. What causes these additional mutations is generally unknown. Possible causes include chemical, physical, or biological environmental exposures or chance errors in DNA replication.
Some people who have inherited a germline mismatch-repair gene mutation never develop cancer because they never receive that second mutation to knock out the function of the gene and start the process of tumor formation. This can make the cancer appear to skip generations in a family, even when the mutation is present. People with a mutation, regardless of whether they develop cancer, have a 50/50 chance of passing the mutation on to each of their children.
It is important to remember that the mismatch-repair genes responsible for Lynch syndrome are not located on the sex chromosomes. Therefore, mutations can be inherited from the mother's or the father's side of the family.
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