Linked Life Data

14594944

Source:http://linkedlifedata.com/resource/pubmed/id/14594944

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pubmed-article:14594944pubmed:abstractTextHereditary non-polyposis colorectal cancer (HNPCC) is a very important clinical entity in oncology. In order to identify HNPCC, the international diagnostic criteria named "Amsterdam criteria" have been used. In this report, we present a case of an HNPCC patient who met the revised Amsterdam criteria after the sequential history taking in which a novel germline mutation of hMSH2 gene was detected by genetic testing. The proband was a 69-year-old Japanese female who was admitted to our hospital with a diagnosis of advanced ascending colon cancer. Microsatellite instability (MSI) analysis revealed high MSI in the resected tumor tissue. PCR/direct sequencing analysis of the genomic DNA revealed the TTG(Leu) to TAG(Stop) nonsense mutation at codon 302 in exon 5 of the hMSH2 gene, which was considered to be a pathogenic mutation. According to the Human Mutation Database and International Collaborative Group on HNPCC (ICG-HNPCC) Database, this type of nonsense mutation is the first report in the hMSH2 gene.lld:pubmed
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pubmed-article:14594944pubmed:authorpubmed-author:TomitaNaohiro...lld:pubmed
pubmed-article:14594944pubmed:authorpubmed-author:MatsuuraNaria...lld:pubmed
pubmed-article:14594944pubmed:authorpubmed-author:SuganoKokichi...lld:pubmed
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pubmed-article:14594944pubmed:authorpubmed-author:TamuraShigeyu...lld:pubmed
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pubmed-article:14594944pubmed:dateRevised2006-11-15lld:pubmed
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pubmed-article:14594944pubmed:year2003lld:pubmed
pubmed-article:14594944pubmed:articleTitleThe novel germline mutation of hMSH2 gene in a case of a hereditary non-polyposis colorectal cancer (HNPCC) patient who meets the revised Amsterdam criteria.lld:pubmed
pubmed-article:14594944pubmed:affiliationDepartment of Surgery, Kansai Rosai Hospital, 3-1-69 Inaba-so, Amagasaki, Hyogo 660-8511, Japan. ntomita@kanrou.netlld:pubmed
pubmed-article:14594944pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:14594944pubmed:publicationTypeCase Reportslld:pubmed
pubmed-article:14594944pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed