Abstract
Hereditary Aspects of Colorectal Cancer: Mismatch Repair Genes Drive Lynch Syndrome
Highlights
“The important thing about Lynch syndrome is that most of the cancers are preventable,” said Ms Hampel
KEY GENES Lynch syndrome is caused by a mutation in one of four mismatch repair genes—MLH1, MSH2, MSH6, and PMS2, with a mutation in MLH1 or MSH2 conferring much higher cancer risks
Because of the lower cancer risks associated with mutation of MSH6 or PMS2, the family history may not be as striking, and family history alone is not adequately sensitive to identify patients with Lynch syndrome
Summary
Hereditary Aspects of Colorectal Cancer: Mismatch Repair Genes Drive Lynch Syndrome. “The important thing about Lynch syndrome is that most of the cancers are preventable,” said Ms Hampel. A working copy of the gene from the other parent prevents the development of cancers for many years. The odds are high, that over the years, when an at-risk cell in the colon or the endometrium is dividing, “they are just going to acquire a mistake in the working copy; a so-called second hit, and we have a cell with no more working mismatch repair gene,” said Ms Hampel. “Once both copies of the repair gene are not working, the cell will begin to accumulate genetic mutations. When any one cell gets enough mistakes or mutations, that cell will become a cancer.”
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