Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
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 polymo...
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| Veröffentlicht in: | Cell 1993-12, Vol.75 (6), p.1215-1225 |
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| creator | Leach, Fredrick S. Nicolaides, Nicholas C. Papadopoulos, Nickolas Liu, Bo Jen, Jin Parsons, Ramon Peltomäki, Päivi Sistonen, Pertti Aaltonen, Lauri A. Nyström-Lahti, Minna Guan, X.-Y. Zhang, Ji Meltzer, Paul S. Yu, Jing-Wei Kao, Fa-Ten Chen, David J. Cerosaletti, Karen M. Fournier, R.E.Keith Todd, Sean Lewis, Tracey Leach, Robin J. Naylor, Susan L. Weissenbach, Jean Mecklin, Jukka-Pekka Järvinen, Heikki Petersen, Gloria M. Hamilton, Stanley R. Green, Jane Jass, Jeremy Watson, Patrice Lynch, Henry T. Trent, Jeffrey M. de la Chapelle, Albert Kinzler, Kenneth W. Vogelstein, Bert |
| description | 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. |
| doi_str_mv | 10.1016/0092-8674(93)90330-S |
| format | Article |
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+ 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><identifier>ISSN: 0092-8674</identifier><identifier>EISSN: 1097-4172</identifier><identifier>DOI: 10.1016/0092-8674(93)90330-S</identifier><identifier>PMID: 8261515</identifier><identifier>CODEN: CELLB5</identifier><language>eng</language><publisher>Cambridge, MA: Elsevier Inc</publisher><subject>Amino Acid Sequence ; Animals ; Base Sequence ; Biological and medical sciences ; Brain - metabolism ; Cell Line ; Chromosome Banding ; Chromosome Mapping ; Chromosomes, Human, Pair 2 ; Colon - metabolism ; Colonic Neoplasms - genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics ; Cricetinae ; DNA Primers ; DNA Repair - genetics ; DNA-Binding Proteins ; Fungal Proteins - genetics ; Gastroenterology. Liver. Pancreas. Abdomen ; Gene Library ; Genetic Linkage ; Genetic Markers ; Humans ; Hybrid Cells ; In Situ Hybridization, Fluorescence ; Medical sciences ; Mice ; Molecular Sequence Data ; Mutation ; MutS Homolog 2 Protein ; Open Reading Frames ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Proto-Oncogene Proteins - genetics ; Rats ; Saccharomyces cerevisiae - genetics ; Saccharomyces cerevisiae Proteins ; Sequence Homology, Amino Acid ; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus ; Tumors</subject><ispartof>Cell, 1993-12, Vol.75 (6), p.1215-1225</ispartof><rights>1993</rights><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c549t-1c2c9acd302276a32c9e5195110e084404b2aa656968a664c908ca6d02b8226d3</citedby><cites>FETCH-LOGICAL-c549t-1c2c9acd302276a32c9e5195110e084404b2aa656968a664c908ca6d02b8226d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/009286749390330S$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27903,27904,65309</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3880517$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8261515$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Leach, Fredrick S.</creatorcontrib><creatorcontrib>Nicolaides, Nicholas C.</creatorcontrib><creatorcontrib>Papadopoulos, Nickolas</creatorcontrib><creatorcontrib>Liu, Bo</creatorcontrib><creatorcontrib>Jen, Jin</creatorcontrib><creatorcontrib>Parsons, Ramon</creatorcontrib><creatorcontrib>Peltomäki, Päivi</creatorcontrib><creatorcontrib>Sistonen, Pertti</creatorcontrib><creatorcontrib>Aaltonen, Lauri A.</creatorcontrib><creatorcontrib>Nyström-Lahti, Minna</creatorcontrib><creatorcontrib>Guan, X.-Y.</creatorcontrib><creatorcontrib>Zhang, Ji</creatorcontrib><creatorcontrib>Meltzer, Paul S.</creatorcontrib><creatorcontrib>Yu, Jing-Wei</creatorcontrib><creatorcontrib>Kao, Fa-Ten</creatorcontrib><creatorcontrib>Chen, David J.</creatorcontrib><creatorcontrib>Cerosaletti, Karen M.</creatorcontrib><creatorcontrib>Fournier, R.E.Keith</creatorcontrib><creatorcontrib>Todd, Sean</creatorcontrib><creatorcontrib>Lewis, Tracey</creatorcontrib><creatorcontrib>Leach, Robin J.</creatorcontrib><creatorcontrib>Naylor, Susan L.</creatorcontrib><creatorcontrib>Weissenbach, Jean</creatorcontrib><creatorcontrib>Mecklin, Jukka-Pekka</creatorcontrib><creatorcontrib>Järvinen, Heikki</creatorcontrib><creatorcontrib>Petersen, Gloria M.</creatorcontrib><creatorcontrib>Hamilton, Stanley R.</creatorcontrib><creatorcontrib>Green, Jane</creatorcontrib><creatorcontrib>Jass, Jeremy</creatorcontrib><creatorcontrib>Watson, Patrice</creatorcontrib><creatorcontrib>Lynch, Henry T.</creatorcontrib><creatorcontrib>Trent, Jeffrey M.</creatorcontrib><creatorcontrib>de la Chapelle, Albert</creatorcontrib><creatorcontrib>Kinzler, Kenneth W.</creatorcontrib><creatorcontrib>Vogelstein, Bert</creatorcontrib><title>Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer</title><title>Cell</title><addtitle>Cell</addtitle><description>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><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Brain - metabolism</subject><subject>Cell Line</subject><subject>Chromosome Banding</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 2</subject><subject>Colon - metabolism</subject><subject>Colonic Neoplasms - genetics</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</subject><subject>Cricetinae</subject><subject>DNA Primers</subject><subject>DNA Repair - genetics</subject><subject>DNA-Binding Proteins</subject><subject>Fungal Proteins - genetics</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Gene Library</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Humans</subject><subject>Hybrid Cells</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Medical sciences</subject><subject>Mice</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>MutS Homolog 2 Protein</subject><subject>Open Reading Frames</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><subject>Proto-Oncogene Proteins - genetics</subject><subject>Rats</subject><subject>Saccharomyces cerevisiae - genetics</subject><subject>Saccharomyces cerevisiae Proteins</subject><subject>Sequence Homology, Amino Acid</subject><subject>Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</subject><subject>Tumors</subject><issn>0092-8674</issn><issn>1097-4172</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1rGzEQhkVocZy0_yABHUpoD9uMPle6BIJp6oBLDm7PQtbKscLuypF2C_73kWPjY07DMM8M8z4IXRH4SYDIWwBNKyVr_l2zHxoYg2p5hqYEdF1xUtNPaHpCztFFzi8AoIQQEzRRVBJBxBTN_4yDHULsM45rbHE3Dku8iV1s4zMOPd745Jsw2LTDfey3sd1tYw4ZuwIk7wbbYmd759MX9Hlt2-y_Husl-vfw6-9sXi2efj_O7heVE1wPFXHUaesaBpTW0rLSeUG0IAQ8KM6Br6i1UkgtlZWSOw3KWdkAXSlKZcMu0c3h7jbF19HnwXQhO9-2tvdxzKaWhCrBWQH5AXQp5pz82mxT6EoQQ8DsBZq9HbO3YzQz7wLNsqxdH--Pq843p6WjsTL_dpzb7Gy7TiV9yCeMKQWC1AW7O2C-uPgffDLZBV9ENWGvzTQxfPzHG-ZIi4w</recordid><startdate>19931217</startdate><enddate>19931217</enddate><creator>Leach, Fredrick S.</creator><creator>Nicolaides, Nicholas C.</creator><creator>Papadopoulos, Nickolas</creator><creator>Liu, Bo</creator><creator>Jen, Jin</creator><creator>Parsons, Ramon</creator><creator>Peltomäki, Päivi</creator><creator>Sistonen, Pertti</creator><creator>Aaltonen, Lauri A.</creator><creator>Nyström-Lahti, Minna</creator><creator>Guan, X.-Y.</creator><creator>Zhang, Ji</creator><creator>Meltzer, Paul S.</creator><creator>Yu, Jing-Wei</creator><creator>Kao, Fa-Ten</creator><creator>Chen, David J.</creator><creator>Cerosaletti, Karen M.</creator><creator>Fournier, R.E.Keith</creator><creator>Todd, Sean</creator><creator>Lewis, Tracey</creator><creator>Leach, Robin J.</creator><creator>Naylor, Susan L.</creator><creator>Weissenbach, Jean</creator><creator>Mecklin, Jukka-Pekka</creator><creator>Järvinen, Heikki</creator><creator>Petersen, Gloria M.</creator><creator>Hamilton, Stanley R.</creator><creator>Green, Jane</creator><creator>Jass, Jeremy</creator><creator>Watson, Patrice</creator><creator>Lynch, Henry T.</creator><creator>Trent, Jeffrey M.</creator><creator>de la Chapelle, Albert</creator><creator>Kinzler, Kenneth W.</creator><creator>Vogelstein, Bert</creator><general>Elsevier Inc</general><general>Cell Press</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19931217</creationdate><title>Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer</title><author>Leach, Fredrick S. ; Nicolaides, Nicholas C. ; Papadopoulos, Nickolas ; Liu, Bo ; Jen, Jin ; Parsons, Ramon ; Peltomäki, Päivi ; Sistonen, Pertti ; Aaltonen, Lauri A. ; Nyström-Lahti, Minna ; Guan, X.-Y. ; Zhang, Ji ; Meltzer, Paul S. ; Yu, Jing-Wei ; Kao, Fa-Ten ; Chen, David J. ; Cerosaletti, Karen M. ; Fournier, R.E.Keith ; Todd, Sean ; Lewis, Tracey ; Leach, Robin J. ; Naylor, Susan L. ; Weissenbach, Jean ; Mecklin, Jukka-Pekka ; Järvinen, Heikki ; Petersen, Gloria M. ; Hamilton, Stanley R. ; Green, Jane ; Jass, Jeremy ; Watson, Patrice ; Lynch, Henry T. ; Trent, Jeffrey M. ; de la Chapelle, Albert ; Kinzler, Kenneth W. ; Vogelstein, Bert</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c549t-1c2c9acd302276a32c9e5195110e084404b2aa656968a664c908ca6d02b8226d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Brain - metabolism</topic><topic>Cell Line</topic><topic>Chromosome Banding</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 2</topic><topic>Colon - metabolism</topic><topic>Colonic Neoplasms - genetics</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</topic><topic>Cricetinae</topic><topic>DNA Primers</topic><topic>DNA Repair - genetics</topic><topic>DNA-Binding Proteins</topic><topic>Fungal Proteins - genetics</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Gene Library</topic><topic>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>Humans</topic><topic>Hybrid Cells</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Medical sciences</topic><topic>Mice</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>MutS Homolog 2 Protein</topic><topic>Open Reading Frames</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic</topic><topic>Proto-Oncogene Proteins - genetics</topic><topic>Rats</topic><topic>Saccharomyces cerevisiae - genetics</topic><topic>Saccharomyces cerevisiae Proteins</topic><topic>Sequence Homology, Amino Acid</topic><topic>Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Leach, Fredrick S.</creatorcontrib><creatorcontrib>Nicolaides, Nicholas C.</creatorcontrib><creatorcontrib>Papadopoulos, Nickolas</creatorcontrib><creatorcontrib>Liu, Bo</creatorcontrib><creatorcontrib>Jen, Jin</creatorcontrib><creatorcontrib>Parsons, Ramon</creatorcontrib><creatorcontrib>Peltomäki, Päivi</creatorcontrib><creatorcontrib>Sistonen, Pertti</creatorcontrib><creatorcontrib>Aaltonen, Lauri A.</creatorcontrib><creatorcontrib>Nyström-Lahti, Minna</creatorcontrib><creatorcontrib>Guan, X.-Y.</creatorcontrib><creatorcontrib>Zhang, Ji</creatorcontrib><creatorcontrib>Meltzer, Paul S.</creatorcontrib><creatorcontrib>Yu, Jing-Wei</creatorcontrib><creatorcontrib>Kao, Fa-Ten</creatorcontrib><creatorcontrib>Chen, David J.</creatorcontrib><creatorcontrib>Cerosaletti, Karen M.</creatorcontrib><creatorcontrib>Fournier, R.E.Keith</creatorcontrib><creatorcontrib>Todd, Sean</creatorcontrib><creatorcontrib>Lewis, Tracey</creatorcontrib><creatorcontrib>Leach, Robin J.</creatorcontrib><creatorcontrib>Naylor, Susan L.</creatorcontrib><creatorcontrib>Weissenbach, Jean</creatorcontrib><creatorcontrib>Mecklin, Jukka-Pekka</creatorcontrib><creatorcontrib>Järvinen, Heikki</creatorcontrib><creatorcontrib>Petersen, Gloria M.</creatorcontrib><creatorcontrib>Hamilton, Stanley R.</creatorcontrib><creatorcontrib>Green, Jane</creatorcontrib><creatorcontrib>Jass, Jeremy</creatorcontrib><creatorcontrib>Watson, Patrice</creatorcontrib><creatorcontrib>Lynch, Henry T.</creatorcontrib><creatorcontrib>Trent, Jeffrey M.</creatorcontrib><creatorcontrib>de la Chapelle, Albert</creatorcontrib><creatorcontrib>Kinzler, Kenneth W.</creatorcontrib><creatorcontrib>Vogelstein, Bert</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Cell</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Leach, Fredrick S.</au><au>Nicolaides, Nicholas C.</au><au>Papadopoulos, Nickolas</au><au>Liu, Bo</au><au>Jen, Jin</au><au>Parsons, Ramon</au><au>Peltomäki, Päivi</au><au>Sistonen, Pertti</au><au>Aaltonen, Lauri A.</au><au>Nyström-Lahti, Minna</au><au>Guan, X.-Y.</au><au>Zhang, Ji</au><au>Meltzer, Paul S.</au><au>Yu, Jing-Wei</au><au>Kao, Fa-Ten</au><au>Chen, David J.</au><au>Cerosaletti, Karen M.</au><au>Fournier, R.E.Keith</au><au>Todd, Sean</au><au>Lewis, Tracey</au><au>Leach, Robin J.</au><au>Naylor, Susan L.</au><au>Weissenbach, Jean</au><au>Mecklin, Jukka-Pekka</au><au>Järvinen, Heikki</au><au>Petersen, Gloria M.</au><au>Hamilton, Stanley R.</au><au>Green, Jane</au><au>Jass, Jeremy</au><au>Watson, Patrice</au><au>Lynch, Henry T.</au><au>Trent, Jeffrey M.</au><au>de la Chapelle, Albert</au><au>Kinzler, Kenneth W.</au><au>Vogelstein, Bert</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer</atitle><jtitle>Cell</jtitle><addtitle>Cell</addtitle><date>1993-12-17</date><risdate>1993</risdate><volume>75</volume><issue>6</issue><spage>1215</spage><epage>1225</epage><pages>1215-1225</pages><issn>0092-8674</issn><eissn>1097-4172</eissn><coden>CELLB5</coden><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.</abstract><cop>Cambridge, MA</cop><pub>Elsevier Inc</pub><pmid>8261515</pmid><doi>10.1016/0092-8674(93)90330-S</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Cell, 1993-12, Vol.75 (6), p.1215-1225 |
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| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Amino Acid Sequence Animals Base Sequence Biological and medical sciences Brain - metabolism Cell Line Chromosome Banding Chromosome Mapping Chromosomes, Human, Pair 2 Colon - metabolism Colonic Neoplasms - genetics Colorectal Neoplasms, Hereditary Nonpolyposis - genetics Cricetinae DNA Primers DNA Repair - genetics DNA-Binding Proteins Fungal Proteins - genetics Gastroenterology. Liver. Pancreas. Abdomen Gene Library Genetic Linkage Genetic Markers Humans Hybrid Cells In Situ Hybridization, Fluorescence Medical sciences Mice Molecular Sequence Data Mutation MutS Homolog 2 Protein Open Reading Frames Polymerase Chain Reaction Polymorphism, Genetic Proto-Oncogene Proteins - genetics Rats Saccharomyces cerevisiae - genetics Saccharomyces cerevisiae Proteins Sequence Homology, Amino Acid Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Tumors |
| title | Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer |
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