Lynch syndrome is caused by abnormal mutation in the genes responsible for DNA repair. Thus, the faulty DNA in a cell increases the risk of various types of cancer that may develop in the patient with Lynch syndrome. Proper screening methods should be used to reduce the risk of development of cancer.
Is Lynch Syndrome Cancerous?
Lynch Syndrome is not as such cancerous rather it increases the risk of developing various types of cancer. It does not mean that the person with Lynch syndrome essentially develops cancer, but the risk is higher as compared to general population.
The genetic mutation in various genes such as MLH1, MSH2, MSH6 and PMS2 increases the risk of cancer in these patients. These genes are the DNA repairing genes and this condition is autosomal dominant condition. It is yet unknown why the risk increased for particular types of cancer as compared to other cancers. Following are types of cancers that can develop due to Lynch syndrome:
Colorectal Cancer: The risk of colorectal cancer is significantly increased in the patients with Lynch Syndrome. The increase in risk depends upon the type of genes that gets mutated. The colorectal risk in these patients is increased to as high as 70%. The risk of developing cancer can be reduced by scheduled colonoscopy and endoscopy.
Endometrial Cancer: The mutation in MSH6 significantly increases the risk of endometrial cancer. The risk can be reduced by routine pelvic examination. The risk is increased due to mutation in all the genes.
Ovarian Cancer: It is to be noted that not all the genes that are mutated increases the risk of ovarian cancer. Risk is increased in the mutation in gene MLH1, MSH2 while it is not increased in MSH6 and PMS2.
Gastric Cancer: Prolonged indigestion, unexplained weight loss and chronic fatigue are the symptoms of gastric cancer. The mutation in genes MLH1 and MSH2 significantly increases the risk of gastric cancer while the risk is not increased due to mutation in MSH6 and PMS2.
Pancreatic Cancer: Pancreatic cancer risk is also increased due to faulty DNA repair mechanism, which occurs in Lynch syndrome. The risk is increased up to 5% as compared to 1% in the general population.
Urinary Tract: Lynch syndrome may also result in the urinary tract cancer. The risk is increased due to mutation in MLH1 and MSH2 genes. The mutation in gene MSH2 increases the risk of cancer by approximately 30% in some cases.
Small Bowel Cancer: Male are at higher risk in contracting the small bowel cancer because of Lynch Disease. The risk due to mutation in MSH2 gene may increase the risk by 5% as compared to less than 1% in general population.
Brain Cancer: Mutation in genes in Lynch Syndrome may also result in risk of increasing Brain cancer. The overall risk is increased up to 3% as compared to 1% in the general population.
Hepatic Cancer: The mutation in MLH1 and MSH2 increases the risk of hepatic cancer which includes the cancer of liver and bile duct. The risk due to mutation in gene MLH1 is increased to 3% as compared to less than 1% in general population.
Lynch Syndrome Diagnosis
Diagnosis of Lynch syndrome is done either in the patient that had contracted cancer, or the close relative of a person diagnosed with Lynch Syndrome. The family history and the previous cancer diagnosis are the important clues for identifying Lynch Syndrome. Following are the diagnostic procedures used:
Tumor Testing: Tumor testing is done to evaluate the presence of cancerous cells. The tumor testing is the preliminary testing of Lynch syndrome which only determines the presence of cancer. The tumor testing does not give any clue about the presence of Lynch syndrome.
Genetic Testing: Genetic testing is done to identify the presence of Lynch syndrome. In this, the genetic make up of the DNA is evaluated. Various methods such as Microsatellite instability testing (MSI), Immunochemistry, MLH1 methylation and BRAF methods are used to perform the genetic testing procedures.
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