Familial nonpolyposis colon cancer
Familial Nonpolyposis Colon Cancer (HNPCC)[edit | edit source]
Familial Nonpolyposis Colon Cancer (HNPCC), also known as Lynch syndrome, is an inherited disorder that increases the risk of many types of cancer, particularly colorectal cancer. It is characterized by the development of colorectal cancer at a younger age than is typical, without the presence of numerous polyps in the colon.
Genetic Basis[edit | edit source]
HNPCC is caused by mutations in mismatch repair (MMR) genes, which are responsible for correcting errors that occur during DNA replication. The most commonly affected genes are MLH1, MSH2, MSH6, and PMS2. Mutations in these genes lead to microsatellite instability (MSI), a condition that predisposes cells to accumulate mutations and develop into cancer.
Clinical Features[edit | edit source]
Individuals with HNPCC have a significantly increased risk of developing colorectal cancer, often before the age of 50. They may also have an increased risk of other cancers, including endometrial, ovarian, gastric, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin cancers.
Diagnosis[edit | edit source]
Diagnosis of HNPCC is based on family history, clinical criteria, and genetic testing. The Amsterdam Criteria and Bethesda Guidelines are used to identify families that may have HNPCC. Genetic testing can confirm the presence of mutations in MMR genes.
Management[edit | edit source]
Management of HNPCC involves regular surveillance and screening to detect cancers early. Colonoscopy is recommended every 1-2 years starting at age 20-25, or 2-5 years earlier than the youngest age of diagnosis in the family. Women may also undergo regular endometrial and ovarian cancer screening.
Prevention[edit | edit source]
Preventive measures may include prophylactic surgeries, such as colectomy or hysterectomy, to reduce cancer risk. Lifestyle modifications, such as a healthy diet and regular exercise, may also help lower cancer risk.
Research and Future Directions[edit | edit source]
Ongoing research aims to better understand the genetic and environmental factors contributing to HNPCC and to develop targeted therapies. Advances in genetic testing and personalized medicine hold promise for improving the management of individuals with HNPCC.
See Also[edit | edit source]
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NIH genetic and rare disease info[edit source]
Familial nonpolyposis colon cancer is a rare disease.
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