PMID: 12769209May 29, 2003Paper

Genetic testing for hereditary nonpolyposis colorectal cancer

The American Surgeon
Rebecca HoedemaMartin Luchtefeld

Abstract

Approximately 80 per cent of patients with colorectal cancer have sporadic disease whereas the remaining 20 per cent seem to have a genetic component. Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common autosomal dominant hereditary syndrome predisposing to colorectal cancer. Various methods have been described to screen for HNPCC and to directly test for mismatch repair gene mutations. This study evaluates the initial results of 1) microsatellite instability (MSI) and immunohistochemistry (IHC) staining of tumors and 2) genetic sequencing for mismatch repair gene mutations in patients suspected to have HNPCC. Appropriate patients for HNPCC testing were identified through a high-risk colorectal cancer clinic. Of those patients screened only those who met Amsterdam criteria (AC) for HNPCC or were young age onset (YAO) (<40 years of age) were eligible for testing. The tumors underwent testing for MSI and had IHC performed in those patients with available tumor specimens. MSI was performed on the five markers approved by the NIH consensus conference. MSI-High (MSI-H) was defined as two or more markers being unstable. IHC was done with commercially available stains for MLH1 and MSH2. All patients had sequencing of ...Continue Reading

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Citations

May 23, 2003·Gastroenterology·William M Grady
Jan 7, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Glenn E PalomakiStephen N Thibodeau
Jan 12, 2008·World Journal of Gastroenterology : WJG·Chang-Hua ZhangWen-Hua Zhan
Aug 12, 2017·The Journal of Urology·Michael J MetcalfeSurena F Matin

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