updated 2010 - MSH2 (one of the Lynch Syndrome genes) Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Saturday, January 23, 2010

updated 2010 - MSH2 (one of the Lynch Syndrome genes)



"People with mutations in the MSH2 gene have an increased risk of developing several other types of cancer (colorectal), including cancers of the endometrium (lining of the uterus), ovary, stomach, small intestine, liver, gallbladder duct, upper urinary tract, brain, and skin.
Some mutations in the MSH2 gene increase the likelihood of several uncommon skin tumors occurring in addition to colorectal cancer, a combination called Muir-Torre syndrome. These rare skin tumors include sebaceous adenomas and carcinomas, which occur in skin glands (sebaceous glands) that produce an oily substance called sebum. Multiple, rapidly growing skin tumors called keratoacanthomas may also occur, usually on sun-exposed areas.

other cancers - caused by mutations in the MSH2 gene
Some individuals in families affected by Lynch syndrome have a mutation in both copies of the MSH2 gene. Most often, the same mutation occurs in both copies of the gene (a homozygous mutation) in each cell. People with a homozygous MSH2 mutation have a syndrome distinct from Lynch syndrome. In addition to colorectal cancer, they may develop cancers of the blood (leukemia or lymphoma). Some of these individuals will also develop noncancerous tumors that grow along nerves (neurofibromas) and have light brown patches of skin called café-au-lait spots. These two signs are characteristic of a condition known as neurofibromatosis. The onset of colon cancer in these individuals is extremely early, often occurring during childhood. This syndrome involving colon cancer, leukemia or lymphoma, and neurofibromatosis is sometimes called CoLoN."

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