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Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer



Hereditary Non-Polyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Cancer

Overview

Hereditary nonpolyposis colon cancer: (HNPCC) An hereditary cancer syndrome which carries a very high risk of colon cancer and an above-normal risk of other cancers (uterus, ovary, stomach, small intestine, system, urinary tract, brain, and skin).
The HNPCC syndrome is due to mutation in a gene in the DNA mismatch repair system, usually the MLH1 or MSH2 gene or less often the MSH6 or PMS2 genes. Families with HNPCC account for about 5% of all cases of colon cancer and typically have the following features (called the Amsterdam clinical criteria):

  • Three or more family members with colorectal cancer;
  • Affected family members in two or more generations; and
  • At least one person with colon cancer diagnosed before the age of 50.

Hereditary Non-Polyposis Colorectal Cancer

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The highest risk with HNPCC is for colon cancer. A person with HNPCC has about an 80% lifetime risk of colon cancer. Two-thirds of these tumors occur in the proximal colon. Women with HNPCC have a 20-60% lifetime risk of endometrial cancer. In HNPCC, the gastric cancer is usually intestinal-type adenocarcinoma. The ovarian cancer in HNPCC may be diagnosed before age 40.

Other HNPCC-related cancers have characteristic features: the urinary tract cancers are transitional carcinoma of the ureter and renal pelvis; the small bowel cancer is most common in the duodenum and jejunum; and the most common type of brain tumor is glioblastoma.

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The diagnosis of HNPCC may be made on the basis of the Amsterdam clinical criteria (listed above) or on the basis of molecular genetic testing for mutations in a mismatch repair gene (MLH1, MSH2, MSH6 or PMS2). Mutations in MLH1 and MSH2 account for 90% of HNPCC. Mutations in MSH6 and PMS2 account for the rest.

HNPCC is inherited in an autosomal dominant manner. Each child of an individual with HNPCC has a 50% chance of inheriting the mutation. Most people diagnosed with HNPCC have inherited the condition from a parent. However, not all individuals with an HNPCC gene mutation have a parent who had cancer. Prenatal diagnosis for pregnancies at increased risk for HNPCC is possible

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Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer

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