What is the difference between HNPCC and Lynch syndrome?

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.

What type of mutation is HNPCC?

Hereditary nonpolyposis colorectal cancer HNPCC, Lynch syndrome) is a genetic disease of autosomal dominant inheritance. It is caused by a mutation in one of four genes of the DNA mismatch repair system and confers a markedly increased risk for various types of cancer, particularly of the colon and the endometrium.

Are there different variations of HNPCC?

HNPCC is divided into Lynch syndrome I (familial colon cancer) and Lynch syndrome II (HNPCC associated with other cancers of the gastrointestinal [GI] or reproductive system). The increased cancer risk is due to inherited mutations that degrade the self-repair capability of DNA.

What is the Amsterdam II criteria?

Through use of the Amsterdam II criteria, patients are diagnosed with HNPCC when the following criteria are present: (i) the family includes three or more relatives with an HNPCC-associated cancer, (ii) one affected patient is a first-degree relative of the other two, (iii) two or more successive generations are …

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.

How often should a person be screened for HNPCC?

First-degree relatives of persons with HNPCC should undergo screening colonoscopy every one to two years starting at 25 years of age or five years younger than the first cancer diagnosis in the family, whichever comes first. Surveillance should continue until 75 years of age.

What is the Amsterdam criteria used for?

The Amsterdam criteria are a set of diagnostic criteria used by doctors to help identify families which are likely to have Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC).

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 accurate are the Bethesda Guidelines for the diagnosis of HNPCC?

In 2004, the guidelines were amended and are the most accurate clinical criteria tested to date for identifying patients at risk for HNPCC [ 10, 13, 16, 17] (see appendix 1). It has been estimated that the Bethesda guidelines will potentially target 15-20% of the total colorectal cancer burden [ 18 ].

What are the diagnostic criteria for hepatocellular carcinoma (HNPCC)?

Diagnosis of HNPCC is made if any of the following criteria are fulfilled: first-degree relative with CRC or HNPCC related cancer; one of the cancers diagnosed <45 years of age, and the adenoma diagnosed <40 years of age

How common are HNPCC-related tumors diagnosed at tertiary care hospitals?

While approximately 11% of all HNPCC-related tumors (41/380) diagnosed over the course of one year at our tertiary care hospital met revised Bethesda criteria, only 20% of these (8/41) were referred for cancer genetic counseling, despite an active Cancer Genetics Program within our institution.

What does HNPCC stand for?

* Hereditary nonpolyposis colorectal cancer (HNPCC)-related tumors include colorectal, endometrial, stomach, ovarian, pancreas, ureter and renal pelvis, biliary tract, and brain (usually glioblastoma as seen in Turcot syndrome) tumors, sebaceous gland adenomas and keratoacanthomas in Muir-Torre syndrome,…