What is HNPCC Lynch syndrome?

Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is the most common cause of hereditary colorectal (colon) cancer. People with Lynch syndrome are more likely to get colorectal cancer and other cancers, and at a younger age (before 50), including.

What gene is mutated in HNPCC?

The majority of HNPCC cases are caused by mutations in one of several mismatch-repair genes: MSH2, MSH6, and PMS1 on chromosome 2, MLH1 on chromosome 3, MSH3 on chromosome 5, and PMS2 on chromosome 7. MLH1 and MSH2 are the genes most commonly implicated.

How does EPCAM cause Lynch syndrome?

EPCAM deletions lead to a transcriptional read-through, silencing MSH29 and are estimated to cause Lynch syndrome in ∼20–25% of patients with MSH2-negative cancers, but no detectable MSH2 germline mutation. This corresponds to ∼2–3% of Lynch syndrome patients.

How common is HNPCC?

HNPCC (Lynch syndrome) is an autosomal dominant hereditary tumor syndrome caused by mutations in DNA mismatch repair system genes. Approximately one in 500 members of the general population carries a pathogenic mutation.

What is the difference between HNPCC and Lynch syndrome?

HNPCC is defined clinically, usually as families satisfying Amsterdam I or II criteria. 2 Lynch syndrome is defined genetically, by the presence of a germline mutation in DNA mismatch repair (MMR) or EPCAM genes. 3 Not all HNPCC families have Lynch syndrome and not all Lynch syndrome families have HNPCC.

How do people get HNPCC?

Lynch syndrome runs in families in an autosomal dominant inheritance pattern. This means that if one parent carries a gene mutation for Lynch syndrome, there’s a 50 percent chance that mutation will be passed on to each child.

What is a Epcam mutation?

Certain mutations in the EPCAM gene are associated with Lynch syndrome, a condition that increases the risk of developing many types of cancer, particularly cancers of the large intestine (colon) and the rectum (collectively called colorectal cancer). These mutations account for up to 3 percent of Lynch syndrome cases.

What is the Epcam gene?

EPCAM (Epithelial Cell Adhesion Molecule) is a Protein Coding gene. Diseases associated with EPCAM include Diarrhea 5, With Tufting Enteropathy, Congenital and Colorectal Cancer, Hereditary Nonpolyposis, Type 8. Among its related pathways are Adhesion and Response to elevated platelet cytosolic Ca2+.

How is HNPCC treated?

  1. Surgical Care. Removal of the entire colon is the only way to completely prevent the development of colon cancer or to treat an existing cancer.
  2. Postoperative Surveillance.
  3. Prophylactic Colectomy.
  4. Prophylactic Hysterectomy and Bilateral Salpingo-oophorectomy.
  5. Chemoprevention.
  6. Modifying Behavioral Risk Factors.

How is HNPCC diagnosed?

Tests such as colonoscopy and barium enema with flexible sigmoidoscopy are available to tell whether polyps or cancer are present in the colon. For patients at risk for HNPCC, colonoscopy is the preferred method of screening.