Colon cancer, familial nonpolyposis
Colon Cancer, Familial Nonpolyposis
Familial Nonpolyposis Colorectal Cancer (HNPCC), also known as Lynch syndrome, is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon and rectum. It is the most common form of hereditary colorectal cancer.
Overview[edit | edit source]
Familial Nonpolyposis Colorectal Cancer is characterized by an increased risk of colorectal cancer and other cancers, including endometrial cancer, ovarian cancer, gastric cancer, small intestine cancer, hepatobiliary tract cancer, upper urinary tract cancer, brain cancer, and skin cancer. Unlike familial adenomatous polyposis (FAP), HNPCC does not typically present with numerous polyps in the colon.
Genetics[edit | edit source]
HNPCC is caused by mutations in mismatch repair (MMR) genes. The most commonly affected genes are MLH1, MSH2, MSH6, and PMS2. These genes are responsible for repairing errors that occur during DNA replication. When these genes are mutated, errors accumulate, leading to increased cancer risk.
Diagnosis[edit | edit source]
Diagnosis of HNPCC is based on family history and genetic testing. The Amsterdam Criteria and the Revised Bethesda Guidelines are used to identify individuals who should undergo genetic testing. Genetic testing involves sequencing the MMR genes to identify pathogenic mutations.
Management[edit | edit source]
Management of HNPCC involves regular surveillance and preventive measures. 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 with HNPCC should consider annual endometrial sampling and transvaginal ultrasound starting at age 30-35.
Prognosis[edit | edit source]
The prognosis for individuals with HNPCC depends on the stage at which cancer is detected. Early detection through regular surveillance improves outcomes significantly. Genetic counseling is recommended for affected individuals and their families.
Also see[edit | edit source]
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