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, FS1
Nicolaides, NC1
Papadopoulos, N1
Liu, B1
Jen, J1
Parsons, R1
Peltomaki, P1
Sistonen, P1
Aaltonen, LA1
NystromLahti, M1
Guan, XY1
Zhang, J1
Meltzer, PS1
Yu, JW1
Kao, FT1
Chen, DJ1
Cerosaletti, KM1
Fournier, REK1
Todd, S1
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
2011 Impact Factor: 32.403
2011 SCImago Journal Rankings: 9.428
DOIhttp://dx.doi.org/10.1016/0092-8674(93)90330-S
ISI Accession Number IDWOS:A1993MM89300019
DC Field
Value
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
2011 Impact Factor: 32.403
2011 SCImago Journal Rankings: 9.428
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
Author Affiliations
  1. Johns Hopkins Medicine