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Article: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
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TitleMutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
 
AuthorsLeach, FS6
Nicolaides, NC6
Papadopoulos, N6
Liu, B6
Jen, J6
Parsons, R6
Peltomaki, P4
Sistonen, P4
Aaltonen, LA4
NystromLahti, M4
Guan, XY3
Zhang, J3
Meltzer, PS3
Yu, JW2
Kao, FT2
Chen, DJ5
Cerosaletti, KM8
Fournier, REK8
Todd, S7
 
Issue Date1993
 
PublisherCell Press. The Journal's web site is located at http://www.elsevier.com/locate/cell
 
CitationCell, 1993, v. 75 n. 6, p. 1215-1225 [How to Cite?]
DOI: http://dx.doi.org/10.1016/0092-8674(93)90330-S
 
AbstractRecent studies have shown that a locus responsible for hereditary nonpolyposis colorectal cancer (HNPCC) is on chromosome 2p and that tumors developing in these patients contain alterations in microsatellite sequences (RER + phenotype). We have used chromosome microdissection to obtain highly polymorphic markers from chromosome 2p16. These and other markers were ordered in a panel of somatic cell hybrids and used to define a 0.8 Mb interval containing the HNPCC locus. Candidate genes were then mapped, and one was found to lie within the 0.8 Mb interval. We identified this candidate by virtue of its homology to mutS mismatch repair genes. cDNA clones were obtained and the sequence used to detect germline mutations, including those producing termination codons, in HNPCC kindreds. Somatic as well as germline mutations of the gene were identified in RER + tumor cells. This mutS homolog is therefore likely to be responsible for HNPCC.
 
ISSN0092-8674
2012 Impact Factor: 31.957
2012 SCImago Journal Rankings: 19.848
 
DOIhttp://dx.doi.org/10.1016/0092-8674(93)90330-S
 
ISI Accession Number IDWOS:A1993MM89300019
 
DC FieldValue
dc.contributor.authorLeach, FS
 
dc.contributor.authorNicolaides, NC
 
dc.contributor.authorPapadopoulos, N
 
dc.contributor.authorLiu, B
 
dc.contributor.authorJen, J
 
dc.contributor.authorParsons, R
 
dc.contributor.authorPeltomaki, P
 
dc.contributor.authorSistonen, P
 
dc.contributor.authorAaltonen, LA
 
dc.contributor.authorNystromLahti, M
 
dc.contributor.authorGuan, XY
 
dc.contributor.authorZhang, J
 
dc.contributor.authorMeltzer, PS
 
dc.contributor.authorYu, JW
 
dc.contributor.authorKao, FT
 
dc.contributor.authorChen, DJ
 
dc.contributor.authorCerosaletti, KM
 
dc.contributor.authorFournier, REK
 
dc.contributor.authorTodd, S
 
dc.date.accessioned2012-06-26T06:08:57Z
 
dc.date.available2012-06-26T06:08:57Z
 
dc.date.issued1993
 
dc.description.abstractRecent studies have shown that a locus responsible for hereditary nonpolyposis colorectal cancer (HNPCC) is on chromosome 2p and that tumors developing in these patients contain alterations in microsatellite sequences (RER + phenotype). We have used chromosome microdissection to obtain highly polymorphic markers from chromosome 2p16. These and other markers were ordered in a panel of somatic cell hybrids and used to define a 0.8 Mb interval containing the HNPCC locus. Candidate genes were then mapped, and one was found to lie within the 0.8 Mb interval. We identified this candidate by virtue of its homology to mutS mismatch repair genes. cDNA clones were obtained and the sequence used to detect germline mutations, including those producing termination codons, in HNPCC kindreds. Somatic as well as germline mutations of the gene were identified in RER + tumor cells. This mutS homolog is therefore likely to be responsible for HNPCC.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationCell, 1993, v. 75 n. 6, p. 1215-1225 [How to Cite?]
DOI: http://dx.doi.org/10.1016/0092-8674(93)90330-S
 
dc.identifier.doihttp://dx.doi.org/10.1016/0092-8674(93)90330-S
 
dc.identifier.epage1225
 
dc.identifier.isiWOS:A1993MM89300019
 
dc.identifier.issn0092-8674
2012 Impact Factor: 31.957
2012 SCImago Journal Rankings: 19.848
 
dc.identifier.issue6
 
dc.identifier.pmid8261515
 
dc.identifier.scopuseid_2-s2.0-0027145633
 
dc.identifier.spage1215
 
dc.identifier.urihttp://hdl.handle.net/10722/150699
 
dc.identifier.volume75
 
dc.languageeng
 
dc.publisherCell Press. The Journal's web site is located at http://www.elsevier.com/locate/cell
 
dc.publisher.placeUnited States
 
dc.relation.ispartofCell
 
dc.subject.meshAmino Acid Sequence
 
dc.subject.meshAnimals
 
dc.subject.meshBase Sequence
 
dc.subject.meshBrain - Metabolism
 
dc.subject.meshCell Line
 
dc.subject.meshChromosome Banding
 
dc.subject.meshChromosome Mapping
 
dc.subject.meshChromosomes, Human, Pair 2
 
dc.subject.meshColon - Metabolism
 
dc.subject.meshColonic Neoplasms - Genetics
 
dc.subject.meshColorectal Neoplasms, Hereditary Nonpolyposis - Genetics
 
dc.subject.meshCricetinae
 
dc.subject.meshDna Primers
 
dc.subject.meshDna Repair - Genetics
 
dc.subject.meshDna-Binding Proteins
 
dc.subject.meshFungal Proteins - Genetics
 
dc.subject.meshGene Library
 
dc.subject.meshGenetic Linkage
 
dc.subject.meshGenetic Markers
 
dc.subject.meshHumans
 
dc.subject.meshHybrid Cells
 
dc.subject.meshIn Situ Hybridization, Fluorescence
 
dc.subject.meshMice
 
dc.subject.meshMolecular Sequence Data
 
dc.subject.meshMuts Homolog 2 Protein
 
dc.subject.meshMutation
 
dc.subject.meshOpen Reading Frames
 
dc.subject.meshPolymerase Chain Reaction
 
dc.subject.meshPolymorphism, Genetic
 
dc.subject.meshProto-Oncogene Proteins - Genetics
 
dc.subject.meshRats
 
dc.subject.meshSaccharomyces Cerevisiae - Genetics
 
dc.subject.meshSaccharomyces Cerevisiae Proteins
 
dc.subject.meshSequence Homology, Amino Acid
 
dc.titleMutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
 
dc.typeArticle
 
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<contributor.author>Liu, B</contributor.author>
<contributor.author>Jen, J</contributor.author>
<contributor.author>Parsons, R</contributor.author>
<contributor.author>Peltomaki, P</contributor.author>
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<description.abstract>Recent studies have shown that a locus responsible for hereditary nonpolyposis colorectal cancer (HNPCC) is on chromosome 2p and that tumors developing in these patients contain alterations in microsatellite sequences (RER + phenotype). We have used chromosome microdissection to obtain highly polymorphic markers from chromosome 2p16. These and other markers were ordered in a panel of somatic cell hybrids and used to define a 0.8 Mb interval containing the HNPCC locus. Candidate genes were then mapped, and one was found to lie within the 0.8 Mb interval. We identified this candidate by virtue of its homology to mutS mismatch repair genes. cDNA clones were obtained and the sequence used to detect germline mutations, including those producing termination codons, in HNPCC kindreds. Somatic as well as germline mutations of the gene were identified in RER + tumor cells. This mutS homolog is therefore likely to be responsible for HNPCC.</description.abstract>
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<subject.mesh>Base Sequence</subject.mesh>
<subject.mesh>Brain - Metabolism</subject.mesh>
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Author Affiliations
  1. Johns Hopkins University
  2. Eleanor Roosevelt Institute for Cancer Research
  3. National Human Genome Research Institute
  4. Helsingin Yliopisto
  5. Los Alamos National Laboratory
  6. Johns Hopkins Medicine
  7. University of Texas at San Antonio
  8. Fred Hutchinson Cancer Research Center
  9. Memorial University of Newfoundland
  10. School of Medicine, University of Auckland
  11. Creighton University
  12. U. de Genet. Molec. Humaine
  13. Johns Hopkins Bloomberg School of Public Health