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Blog Archives: Nov 2004 - present
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- "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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