HNPCC
HNPCC or Hereditary Nonpolyposis Colorectal Cancer is a type of inherited cancer syndrome associated with a genetic predisposition to certain types of cancer, most notably colon cancer. It is also known as Lynch syndrome.
Overview[edit | edit source]
HNPCC is caused by mutations in the DNA mismatch repair genes, most commonly MLH1, MSH2, MSH6, and PMS2. These mutations lead to an increased risk of developing numerous cancers, particularly colorectal cancer and endometrial cancer. Other cancers associated with HNPCC include ovarian, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin cancers.
Symptoms[edit | edit source]
The symptoms of HNPCC are primarily those of the cancers it predisposes to. These can include changes in bowel habits, abdominal pain, unexplained weight loss, and abnormal vaginal bleeding.
Diagnosis[edit | edit source]
Diagnosis of HNPCC involves a combination of clinical criteria, known as the Amsterdam criteria and Bethesda guidelines, and genetic testing. Genetic testing can confirm the presence of mutations in the DNA mismatch repair genes.
Treatment[edit | edit source]
Treatment for HNPCC involves regular screening for the cancers it predisposes to and, if cancer is detected, standard cancer treatments such as surgery, chemotherapy, and radiation therapy.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
