PMID: 8993976Jan 1, 1997Paper

Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer

Genes, Chromosomes & Cancer
A VielG Neri

Abstract

Mismatch repair genes MSH2 and MLH1 are considered to be the two major genes that are responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Germline heterozygous inactivating mutations of MSH2 and MLH1 have been identified previously in a substantial fraction of individuals who are predisposed genetically to colorectal carcinoma (CRC) and other tumors of the HNPCC spectrum. With the aim of determining the relevance of these two genes in the Italian population, we submitted to mutational analysis a set of 17 HNPCC families, all of which fulfilled the "Amsterdam criteria." A combination of different techniques, including reverse transcription-polymerase chain reaction (RT-PCR) of long fragments and single-strand conformation polymorphism (SSCP) on cDNA and genomic DNA, allowed the identification of ten molecular variants, seven of which are predicted to inactivate mismatch repair function. The mutated predisposing gene was MSH2 in two families and MLH1 in five other families. All of the mutations were characterized by DNA sequencing and appeared to involve different molecular mechanisms, such as short in-frame and out-of-frame deletions, splicing errors, and nonsense mutations. This study also demonstrates that, in t...Continue Reading

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Citations

Dec 2, 1998·International Journal of Cancer. Journal International Du Cancer·P HutterP O Chappuis
Aug 9, 2001·International Journal of Cancer. Journal International Du Cancer·P BenattiM Ponz De Leon
Mar 29, 2002·International Journal of Cancer. Journal International Du Cancer·Trinidad CaldesEduardo Diaz-Rubio
Dec 13, 2005·Surgery Today·Shinya OdaYoshihiko Maehara
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Aug 17, 1999·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·E CapozziA Viel
Oct 29, 2002·Human Mutation·Alessandra VielMaurizio Genuardi
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Nov 20, 1998·The American Journal of Gastroenterology·P BenattiM Ponz de Leon
Aug 11, 1998·Nature Genetics·H ShimodairaC Ishioka
May 12, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Keith NykampScott Topper
Mar 23, 2010·Diseases of the Colon and Rectum·Karin AlvarezFrancisco López-Köstner
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Mar 19, 1999·Biochemical and Biophysical Research Communications·E ItoK Maruyama

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