PMID: 11920650Mar 29, 2002Paper

Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain

International Journal of Cancer. Journal International Du Cancer
T CaldésE Diaz-Rubio

Abstract

HNPCC is an autosomal dominantly inherited cancer-susceptibility syndrome that confers an increased risk for colorectal cancer and endometrial cancer at a young age. It also entails an increased risk of a variety of other tumors, such as ovarian, gastric, uroepithelial and biliary tract cancers. The underlying pathogenic mutation lies in 1 of the 5 known DNA MMR genes (MSH2, MLH1, PMS1, PMS2 and MSH6). We screened a total of 140 individuals from 56 Spanish families with suspected HNPCC for mutations in the DNA mismatch repair genes MLH1 and MSH2, using DGGE and direct DNA sequencing. Families were selected on the basis of a history of HNPCC-related tumors or the occurrence of other associated tumors in members besides the index case affected with colorectal cancer. We detected 14 definite pathogenic germline mutations, 9 in MLH1 and 5 in MSH2 in 13 unrelated families selected by the Amsterdam criteria and Bethesda guidelines (1 family carries 2 mutations) and 3 missense mutations in 3 unrelated families selected by the Amsterdam criteria. Among the 17 germline mutations noted in the Spanish cohort, 10 are novel, 7 in MLH1 and 3 in MSH2, perhaps demonstrating different mutational spectra in the Spanish population, where no found...Continue Reading

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Citations

Jun 14, 2005·Familial Cancer·Ana Sánchez de AbajoTrinidad Caldés
Sep 30, 2010·Nature Genetics·Pilar GarreMiguel de la Hoya
Oct 13, 2011·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·R ZhangC-X Li
Sep 28, 2013·PloS One·Irene Rodríguez-HernándezRogelio González-Sarmiento
Mar 3, 2009·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Lucia Perez-CaborneroMercedes Duran
Sep 24, 2005·The Journal of Obstetrics and Gynaecology Research·Wataru YamagamiShiro Nozawa
Mar 8, 2008·BJU International·Antonio Rubio-Del-CampoJulio Escribano
May 3, 2005·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Maria ColombinoGiuseppe Palmieri
Mar 20, 2012·The Journal of Molecular Diagnostics : JMD·Fabiola MedeirosW Edward Highsmith
Nov 17, 2005·Oncogene·A Sanchez de AbajoT Caldes
Nov 5, 2005·World Journal of Gastroenterology : WJG·Ana Sánchez de AbajoTrinidad Caldes
Oct 30, 2019·Hereditary Cancer in Clinical Practice·Muhammad Usman RashidMuhammed Aasim Yusuf
Apr 15, 2006·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Chi Young JungJae Yong Park
Oct 3, 2007·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Ana Sánchez-de-AbajoTrinidad Caldes
Mar 1, 2011·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Pilar GarreTrinidad Caldés
May 19, 2007·Cancer Research·Masanobu TakahashiChikashi Ishioka

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