Molecular Genetic Testing
Colon Cancer, hereditary non polyposis (HNPCC)

Indication and Diagnostic Value

10% of all colorectal carcinomas have a hereditary background. The most common form is HNPC charcteried by early age of onset of colorectal cancer, very small number of colorectal polyps and extra-colonic malignancies (endometrial, stomach, urinary tract and others). As there are no reliable phenotypic markers are available for early clinical diagnosis, the genetic test provides the only alternative. Mutations in two genes, designated as MLH 1 and MSH 2, are responsible for more than 95% of all HNPCC cases.

Based on genetic - epidemiological studies following “Amsterdam – Criteria” require the genetic test:

- more than three family members falled ill with colon cancer or
other cancers such as of stomach and intestinal, or alternatively

- two first-degree relatives are affected by colon cancer, or

- two subsequent generations in one family were affected,

- or at least one individual developed cancer before the age of 50.

The test used at IMMD detects more than 95% of all possible mutations and deletions. Mutation carriers may also develop other than colorectal carcinomas, for instance various gyneocological tumors.

Samples and Test Method

EDTA blood is required. The techniques used are Fluorescence Conformation Sensitive Gel Electrophoresis (CSGE) on an ABI 377, or Denaturating High Pressure Liquid Chromatography (DHPLC) by WAVE, followed by sequencing those gene fragments, which differ from the normal control. Each clinical report exactly specifies the disease-associated mutation.

Turnaround time for this test is 3 months.

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