Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer
Genetic linkage analysis was used to determine whether a specific chromosomal locus could be implicated in families with a history of early onset cancer but with no other unique features. Close linkage of disease to anonymous microsatellite markers on chromosome 2 was demonstrated in two large kindr...
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| Veröffentlicht in: | Science (American Association for the Advancement of Science) 1993-05, Vol.260 (5109), p.810-812 |
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| creator | Peltomäki, Päivi Aaltonen, Lauri A. Sistonen, Pertti Pylkkänen, Lea Mecklin, Jukka-Pekka Järvinen, Heikki Green, Jane S. Jass, Jeremy R. Weber, James L. Leach, Fredrick S. Petersen, Gloria M. Hamilton, Stanley R. de la Chapelle, Albert Vogelstein, Bert |
| description | Genetic linkage analysis was used to determine whether a specific chromosomal locus could be implicated in families with a history of early onset cancer but with no other unique features. Close linkage of disease to anonymous microsatellite markers on chromosome 2 was demonstrated in two large kindreds. The pairwise lod scores for linkage to marker D2S123 in these kindreds were 6.39 and 1.45 at zero recombination, and multipoint linkage with flanking markers resulted in lod scores of 6.47 and 6.01. These results prove the existence of a genetically determined predisposition to colorectal cancer that has important ramifications for understanding and preventing this disease. |
| doi_str_mv | 10.1126/science.8484120 |
| format | Article |
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Close linkage of disease to anonymous microsatellite markers on chromosome 2 was demonstrated in two large kindreds. The pairwise lod scores for linkage to marker D2S123 in these kindreds were 6.39 and 1.45 at zero recombination, and multipoint linkage with flanking markers resulted in lod scores of 6.47 and 6.01. These results prove the existence of a genetically determined predisposition to colorectal cancer that has important ramifications for understanding and preventing this disease.</description><identifier>ISSN: 0036-8075</identifier><identifier>EISSN: 1095-9203</identifier><identifier>DOI: 10.1126/science.8484120</identifier><identifier>PMID: 8484120</identifier><identifier>CODEN: SCIEAS</identifier><language>eng</language><publisher>Washington, DC: American Society for the Advancement of Science</publisher><subject>550400 - Genetics ; BASIC BIOLOGICAL SCIENCES ; Biological and medical sciences ; BIOLOGICAL MARKERS ; BODY ; Cancer ; carcinoma ; Causes of ; chromosome 2 ; Chromosome Mapping ; CHROMOSOMES ; Chromosomes, Human, Pair 2 ; Colonic Neoplasms - genetics ; colorectal ; Colorectal cancer ; colorectal carcinoma ; Colorectal Neoplasms - genetics ; DIGESTIVE SYSTEM ; Disease Susceptibility ; DISEASES ; DNA, Satellite - genetics ; Female ; Gastroenterology. Liver. Pancreas. Abdomen ; GASTROINTESTINAL TRACT ; Genes ; Genetic disorders ; Genetic loci ; GENETIC MAPPING ; Genetic Markers ; Genetic screening ; Genetic testing ; Hereditary nonpolyposis colorectal neoplasms ; HUMAN CHROMOSOME 2 ; HUMAN CHROMOSOMES ; HUMAN POPULATIONS ; Humans ; INTESTINES ; LARGE INTESTINE ; linkage analysis ; Lod score ; Male ; man ; MAPPING ; Medical genetics ; Medical research ; Medical sciences ; Microsatellite repeats ; NEOPLASMS ; ORGANS ; Pedigree ; POPULATIONS ; predisposing factors ; Rectal Neoplasms - genetics ; Satellite DNA ; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus ; Tumors</subject><ispartof>Science (American Association for the Advancement of Science), 1993-05, Vol.260 (5109), p.810-812</ispartof><rights>Copyright 1993 American Association for the Advancement of Science</rights><rights>1993 INIST-CNRS</rights><rights>COPYRIGHT 1993 American Association for the Advancement of Science</rights><rights>COPYRIGHT 1993 American Association for the Advancement of Science</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c740t-cbb7733f93aeb6c486cc73e40a42586abb4af565b20fd3425b454b5c2d2cbb9c3</citedby><cites>FETCH-LOGICAL-c740t-cbb7733f93aeb6c486cc73e40a42586abb4af565b20fd3425b454b5c2d2cbb9c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/2881171$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/2881171$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>230,314,776,780,799,881,2871,2872,27901,27902,57992,58225</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4754385$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8484120$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/6082919$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Peltomäki, Päivi</creatorcontrib><creatorcontrib>Aaltonen, Lauri A.</creatorcontrib><creatorcontrib>Sistonen, Pertti</creatorcontrib><creatorcontrib>Pylkkänen, Lea</creatorcontrib><creatorcontrib>Mecklin, Jukka-Pekka</creatorcontrib><creatorcontrib>Järvinen, Heikki</creatorcontrib><creatorcontrib>Green, Jane S.</creatorcontrib><creatorcontrib>Jass, Jeremy R.</creatorcontrib><creatorcontrib>Weber, James L.</creatorcontrib><creatorcontrib>Leach, Fredrick S.</creatorcontrib><creatorcontrib>Petersen, Gloria M.</creatorcontrib><creatorcontrib>Hamilton, Stanley R.</creatorcontrib><creatorcontrib>de la Chapelle, Albert</creatorcontrib><creatorcontrib>Vogelstein, Bert</creatorcontrib><title>Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer</title><title>Science (American Association for the Advancement of Science)</title><addtitle>Science</addtitle><description>Genetic linkage analysis was used to determine whether a specific chromosomal locus could be implicated in families with a history of early onset cancer but with no other unique features. Close linkage of disease to anonymous microsatellite markers on chromosome 2 was demonstrated in two large kindreds. The pairwise lod scores for linkage to marker D2S123 in these kindreds were 6.39 and 1.45 at zero recombination, and multipoint linkage with flanking markers resulted in lod scores of 6.47 and 6.01. These results prove the existence of a genetically determined predisposition to colorectal cancer that has important ramifications for understanding and preventing this disease.</description><subject>550400 - Genetics</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>Biological and medical sciences</subject><subject>BIOLOGICAL MARKERS</subject><subject>BODY</subject><subject>Cancer</subject><subject>carcinoma</subject><subject>Causes of</subject><subject>chromosome 2</subject><subject>Chromosome Mapping</subject><subject>CHROMOSOMES</subject><subject>Chromosomes, Human, Pair 2</subject><subject>Colonic Neoplasms - genetics</subject><subject>colorectal</subject><subject>Colorectal cancer</subject><subject>colorectal carcinoma</subject><subject>Colorectal Neoplasms - genetics</subject><subject>DIGESTIVE SYSTEM</subject><subject>Disease Susceptibility</subject><subject>DISEASES</subject><subject>DNA, Satellite - genetics</subject><subject>Female</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>GASTROINTESTINAL TRACT</subject><subject>Genes</subject><subject>Genetic disorders</subject><subject>Genetic loci</subject><subject>GENETIC MAPPING</subject><subject>Genetic Markers</subject><subject>Genetic screening</subject><subject>Genetic testing</subject><subject>Hereditary nonpolyposis colorectal neoplasms</subject><subject>HUMAN CHROMOSOME 2</subject><subject>HUMAN CHROMOSOMES</subject><subject>HUMAN POPULATIONS</subject><subject>Humans</subject><subject>INTESTINES</subject><subject>LARGE INTESTINE</subject><subject>linkage analysis</subject><subject>Lod score</subject><subject>Male</subject><subject>man</subject><subject>MAPPING</subject><subject>Medical genetics</subject><subject>Medical research</subject><subject>Medical sciences</subject><subject>Microsatellite repeats</subject><subject>NEOPLASMS</subject><subject>ORGANS</subject><subject>Pedigree</subject><subject>POPULATIONS</subject><subject>predisposing factors</subject><subject>Rectal Neoplasms - genetics</subject><subject>Satellite DNA</subject><subject>Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</subject><subject>Tumors</subject><issn>0036-8075</issn><issn>1095-9203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqN0s2L1DAUAPAiyjqunr0oFBHxsN1Nmo-mx92iswujI_hxDWn6WrN0mpqkoP-9WVpGBgYccgi898vXy0uSlxhdYpzzK68NDBouBRUU5-hRssKoZFmZI_I4WSFEeCZQwZ4mz7y_RyjmSnKWnC18ldysYYBgdPpJjaMZutS2qUo3Vk8-_eKgMX60_iEebHo77dSQVra3DnRQfVqpeLR7njxpVe_hxTKfJ98_fvhW3Wab7fquut5kuqAoZLqui4KQtiQKaq6p4FoXBChSNGeCq7qmqmWc1TlqGxJjNWW0Zjpv8ri01OQ8eTPva30wMj48gP6p7TDEy0iORF7iMqJ3Mxqd_TWBD3JnvIa-VwPYycuCFRjzWJ3_Qcw5Y0yICC9m2KkepBlaG5zSXSybU70doDUxfI0pxiWleeTZER5HAzujj_n3Bz6SAL9Dpybv5d3XzyfT7Y-T6c36VCrWmwN6cYxq2_fQgYy_XW0P-NXMtbPeO2jl6MxOuT8SI_nQvXLpXrm0Y1zxevmUqd5Bs_f_8m-XvPJa9a2LDWj8ntGCUSJYZK9mdu-Ddft0LgTGBSZ_AVG0-3o</recordid><startdate>19930507</startdate><enddate>19930507</enddate><creator>Peltomäki, Päivi</creator><creator>Aaltonen, Lauri A.</creator><creator>Sistonen, Pertti</creator><creator>Pylkkänen, Lea</creator><creator>Mecklin, Jukka-Pekka</creator><creator>Järvinen, Heikki</creator><creator>Green, Jane S.</creator><creator>Jass, Jeremy R.</creator><creator>Weber, James L.</creator><creator>Leach, Fredrick S.</creator><creator>Petersen, Gloria M.</creator><creator>Hamilton, Stanley R.</creator><creator>de la Chapelle, Albert</creator><creator>Vogelstein, Bert</creator><general>American Society for the Advancement of Science</general><general>American Association for the Advancement of Science</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>8GL</scope><scope>IBG</scope><scope>IOV</scope><scope>ISN</scope><scope>7T3</scope><scope>7TO</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>OTOTI</scope></search><sort><creationdate>19930507</creationdate><title>Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer</title><author>Peltomäki, Päivi ; Aaltonen, Lauri A. ; Sistonen, Pertti ; Pylkkänen, Lea ; Mecklin, Jukka-Pekka ; Järvinen, Heikki ; Green, Jane S. ; Jass, Jeremy R. ; Weber, James L. ; Leach, Fredrick S. ; Petersen, Gloria M. ; Hamilton, Stanley R. ; de la Chapelle, Albert ; Vogelstein, Bert</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c740t-cbb7733f93aeb6c486cc73e40a42586abb4af565b20fd3425b454b5c2d2cbb9c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>550400 - Genetics</topic><topic>BASIC BIOLOGICAL SCIENCES</topic><topic>Biological and medical sciences</topic><topic>BIOLOGICAL MARKERS</topic><topic>BODY</topic><topic>Cancer</topic><topic>carcinoma</topic><topic>Causes of</topic><topic>chromosome 2</topic><topic>Chromosome Mapping</topic><topic>CHROMOSOMES</topic><topic>Chromosomes, Human, Pair 2</topic><topic>Colonic Neoplasms - genetics</topic><topic>colorectal</topic><topic>Colorectal cancer</topic><topic>colorectal carcinoma</topic><topic>Colorectal Neoplasms - genetics</topic><topic>DIGESTIVE SYSTEM</topic><topic>Disease Susceptibility</topic><topic>DISEASES</topic><topic>DNA, Satellite - genetics</topic><topic>Female</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>GASTROINTESTINAL TRACT</topic><topic>Genes</topic><topic>Genetic disorders</topic><topic>Genetic loci</topic><topic>GENETIC MAPPING</topic><topic>Genetic Markers</topic><topic>Genetic screening</topic><topic>Genetic testing</topic><topic>Hereditary nonpolyposis colorectal neoplasms</topic><topic>HUMAN CHROMOSOME 2</topic><topic>HUMAN CHROMOSOMES</topic><topic>HUMAN POPULATIONS</topic><topic>Humans</topic><topic>INTESTINES</topic><topic>LARGE INTESTINE</topic><topic>linkage analysis</topic><topic>Lod score</topic><topic>Male</topic><topic>man</topic><topic>MAPPING</topic><topic>Medical genetics</topic><topic>Medical research</topic><topic>Medical sciences</topic><topic>Microsatellite repeats</topic><topic>NEOPLASMS</topic><topic>ORGANS</topic><topic>Pedigree</topic><topic>POPULATIONS</topic><topic>predisposing factors</topic><topic>Rectal Neoplasms - genetics</topic><topic>Satellite DNA</topic><topic>Stomach. Duodenum. Small intestine. Colon. 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Close linkage of disease to anonymous microsatellite markers on chromosome 2 was demonstrated in two large kindreds. The pairwise lod scores for linkage to marker D2S123 in these kindreds were 6.39 and 1.45 at zero recombination, and multipoint linkage with flanking markers resulted in lod scores of 6.47 and 6.01. These results prove the existence of a genetically determined predisposition to colorectal cancer that has important ramifications for understanding and preventing this disease.</abstract><cop>Washington, DC</cop><pub>American Society for the Advancement of Science</pub><pmid>8484120</pmid><doi>10.1126/science.8484120</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0036-8075 |
| ispartof | Science (American Association for the Advancement of Science), 1993-05, Vol.260 (5109), p.810-812 |
| issn | 0036-8075 1095-9203 |
| language | eng |
| recordid | cdi_osti_scitechconnect_6082919 |
| source | American Association for the Advancement of Science; Jstor Complete Legacy; MEDLINE |
| subjects | 550400 - Genetics BASIC BIOLOGICAL SCIENCES Biological and medical sciences BIOLOGICAL MARKERS BODY Cancer carcinoma Causes of chromosome 2 Chromosome Mapping CHROMOSOMES Chromosomes, Human, Pair 2 Colonic Neoplasms - genetics colorectal Colorectal cancer colorectal carcinoma Colorectal Neoplasms - genetics DIGESTIVE SYSTEM Disease Susceptibility DISEASES DNA, Satellite - genetics Female Gastroenterology. Liver. Pancreas. Abdomen GASTROINTESTINAL TRACT Genes Genetic disorders Genetic loci GENETIC MAPPING Genetic Markers Genetic screening Genetic testing Hereditary nonpolyposis colorectal neoplasms HUMAN CHROMOSOME 2 HUMAN CHROMOSOMES HUMAN POPULATIONS Humans INTESTINES LARGE INTESTINE linkage analysis Lod score Male man MAPPING Medical genetics Medical research Medical sciences Microsatellite repeats NEOPLASMS ORGANS Pedigree POPULATIONS predisposing factors Rectal Neoplasms - genetics Satellite DNA Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Tumors |
| title | Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer |
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