Linked Life Data

12132870

Source:http://linkedlifedata.com/resource/pubmed/id/12132870

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2002-7-22
pubmed:abstractText
The pattern of hMLHI and hMSH2 mutations was assessed to identify the genetic correlation between hereditary gastric and colorectal cancers. Four disease groups and their healthy family members were assembled according to the presentation of gastric cancer: FG, familial clustering of gastric cancer (n = 32); CG, family with one or more colorectal and gastric cancers in first-degree relatives (n = 22); HS, seven HNPCC families corresponding to the Amsterdam criteria (AMS+) and 12 suspected HNPCC families which did not satisfy one of the criteria (AMS-), but no gastric cancer among first- and second-degree relatives (n = 19); and SG, sporadic gastric cancer (n = 33). In the CG group, three were included in AMS + and six in AMS- criteria. Peripheral blood was obtained from them to detect hMLHI and hMLH2 mutations using PCR-SSCP analysis and direct sequencing. The incidence of mutations was 9.4% in the FG group, 54.5% in the CG group, 31.6% in the HS group, and none in the SG group. The incidence, type, and number of the mutation were not different between the CG and HS groups. Thirty-four different mutations included 19 in hMLH1 and 15 in hMSH2. Gastric cancer was the most common extracolonic malignancy in HNPCC and suspected HNPCC families (9/28, 32.1%). The hMLH1 or hMSH2 mutation occurred in seven of 10 families with AMS+, whereas it occurred in four of 18 with AMS- (70% vs. 22.2%, P = .013). Five mutations in the hMLH1 and six mutations in the hMSH2 were exclusively found in families with gastric cancer. All three mutations in the FG group were in hMLHI and there was no mutation in their healthy family members. This study demonstrates that some familial clustering type of gastric cancer appears to be associated with hMLHI mutations thereby indicating a difference from the hereditary gastric cancer studies previously reported. In addition, hMLHI and hMSH2 mutations may impact the gastric cancer carcinogenesis in HNPCC or suspected HNPCC.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0361-090X
pubmed:author
pubmed:issnType
Print
pubmed:volume
25
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
503-10
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:12132870-Adaptor Proteins, Signal Transducing, pubmed-meshheading:12132870-Carrier Proteins, pubmed-meshheading:12132870-Colorectal Neoplasms, Hereditary Nonpolyposis, pubmed-meshheading:12132870-DNA, Neoplasm, pubmed-meshheading:12132870-DNA Mutational Analysis, pubmed-meshheading:12132870-DNA-Binding Proteins, pubmed-meshheading:12132870-Exons, pubmed-meshheading:12132870-Female, pubmed-meshheading:12132870-Genetic Linkage, pubmed-meshheading:12132870-Humans, pubmed-meshheading:12132870-Male, pubmed-meshheading:12132870-Middle Aged, pubmed-meshheading:12132870-MutS Homolog 2 Protein, pubmed-meshheading:12132870-Mutation, pubmed-meshheading:12132870-Neoplasm Proteins, pubmed-meshheading:12132870-Nuclear Proteins, pubmed-meshheading:12132870-Polymerase Chain Reaction, pubmed-meshheading:12132870-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:12132870-Proto-Oncogene Proteins, pubmed-meshheading:12132870-Stomach Neoplasms
pubmed:year
2001
pubmed:articleTitle
hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.
pubmed:affiliation
Department of Surgery, University of Ulsan College of Medicine and Asan Institute for Life Sciences, Seoul, Korea.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't