Prevalence of the mismatch-repair-deficient phenotype in colonic adenomas arising in HNPCC patients: results of a 5-year follow-up study

International Journal of Colorectal Disease
German HNPCC ConsortiumJosef Rüschoff

Abstract

In hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, more than 90% of the carcinomas show microsatellite instability (MSI) due to a loss of mismatch repair (MMR) function. Although adenomas are very common in HNPCC and demonstrate an accelerated adenoma-carcinoma sequence, data about the prevalence and development of MSI in these early neoplastic lesions are lacking. To determine whether MSI and loss of MMR-protein expression are already present in early stages of tumorigenesis and could therefore be used as a screening tool to identify HNPCC patients before they develop an invasive carcinoma, we analyzed 71 adenomas of 36 HNPCC patients during a 5-year follow-up study. These 36 patients were part of a cohort of 122 HNPCC patients who were investigated at the Institute of Pathology, Klinikum Kassel, as part of the multicentric German HNPCC Consortium, which currently serves more than 2,880 registered families. The diagnosis of HNPCC was based either on the detection of a pathogenic germline mutation in the MSH2, MLH1, or MSH6 genes or in cases where a pathogenic mutation was not found; diagnosis of HNPCC was made, because all patients fulfilled the Amsterdam or Bethesda criteria and revealed a high degree of MSI (MSI-...Continue Reading

References

Jan 1, 1995·Virchows Archiv : an International Journal of Pathology·J RüschoffF Hofstaedter
Jan 1, 1993·Human Mutation·J YoungG Chenevix-Trench
May 7, 1993·Science·S N ThibodeauD Schaid
May 21, 1998·The New England Journal of Medicine·L A AaltonenA de la Chapelle
Apr 3, 1999·International Journal of Cancer. Journal International Du Cancer·M AarnioH J Järvinen
Dec 14, 1999·The American Journal of Pathology·A LoukolaL A Aaltonen
Jun 1, 2000·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·R SalovaaraA de la Chapelle
Mar 21, 2001·Human Molecular Genetics·P Peltomäki
Nov 17, 2001·Virchows Archiv : an International Journal of Pathology·E HeinmöllerJ Rüschoff
Jul 16, 2002·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Giovanni LanzaLuigi Cavazzini
Mar 7, 2003·The New England Journal of Medicine·Henry T Lynch, Albert de la Chapelle
Oct 28, 2004·The Journal of Molecular Diagnostics : JMD·Annegret MüllerUNKNOWN German HNPCC Consortium German Cancer Aid (Deutsche Krebshilfe)
Apr 26, 2005·International Journal of Cancer. Journal International Du Cancer·Elisabeth MangoldPeter Propping

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Citations

Jul 19, 2006·International Journal of Colorectal Disease·Sabine KerstingChristian F Krieglstein
Aug 27, 2009·International Journal of Colorectal Disease·Mahsa MolaeiMohammadReza Zali
May 29, 2007·Journal of Cancer Research and Clinical Oncology·I AlldingerC Poremba
Oct 12, 2010·Journal of Genetic Counseling·Scott M WeissmanMolly S Daniels
Jan 10, 2012·Genetic Testing and Molecular Biomarkers·Esra TugEbru Kaplan Sahin
Aug 30, 2008·The American Journal of Surgical Pathology·Alexandros D PolydoridesJoel K Greenson
Jan 21, 2012·Cancer Prevention Research·Matthew B YurgelunElena M Stoffel
Jun 3, 2010·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Albert de la Chapelle, Heather Hampel
Jul 16, 2010·Clinical & Developmental Immunology·Kristen M DrescherHenry T Lynch
Mar 28, 2009·The Journal of Molecular Diagnostics : JMD·Maria Simona PinoDaniel C Chung
Jan 8, 2008·Alimentary Pharmacology & Therapeutics·D RamsoekhE J Kuipers
Aug 8, 2015·PloS One·Jeffery W BacherRichard B Halberg
Nov 15, 2011·The Journal of Pathology·Margot G F van LierUNKNOWN LIMO Study Group
Oct 29, 2009·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Eduard SidelnikovMarch E Seabrook
Aug 1, 2018·Gastroenterology·Christoph EngelUNKNOWN German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group, and the Finnish Lynch Syndrome Registry

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