Loading…

Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations

Hereditary nonpolyposis colorectal carcinoma is a major cancer susceptibility syndrome known to be caused by inheritance of mutations in at least four genes such as hMSH2, hMLH1, hPMS1, and hPMS2 which encode components of a DNA mismatch repair system. The hMLH1 genomic locus on chromosome 3p has be...

Full description

Saved in:

Bibliographic Details
Published in:	Cancer research (Chicago, Ill.) Ill.), 1995-01, Vol.55 (2), p.242-248
Main Authors:	KOLODNER, R. D, HALL, N. R, BISHOP, D. T, LIPFORD, J, KANE, M. F, MORRISON, P. T, FINAN, P. J, BURN, J, CHAPMAN, P, EARABINO, C, MERCHANT, E
Format:	Article
Language:	English
Subjects:	Base Sequence Biological and medical sciences chromosome 3 Chromosomes, Human, Pair 3 - genetics colorectal carcinoma Colorectal Neoplasms, Hereditary Nonpolyposis - genetics DNA Mutational Analysis Exons - genetics family studies Female Gastroenterology. Liver. Pancreas. Abdomen Humans Male man Medical sciences MLH1 gene Molecular Sequence Data mutation Mutation - genetics Pedigree Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Tumors
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

cited_by
cites
container_end_page	248
container_issue	2
container_start_page	242
container_title	Cancer research (Chicago, Ill.)
container_volume	55
creator	KOLODNER, R. D HALL, N. R BISHOP, D. T LIPFORD, J KANE, M. F MORRISON, P. T FINAN, P. J BURN, J CHAPMAN, P EARABINO, C MERCHANT, E
description	Hereditary nonpolyposis colorectal carcinoma is a major cancer susceptibility syndrome known to be caused by inheritance of mutations in at least four genes such as hMSH2, hMLH1, hPMS1, and hPMS2 which encode components of a DNA mismatch repair system. The hMLH1 genomic locus on chromosome 3p has been cloned and shown to cover approximately 58 kilobases of genomic DNA and contain 19 exons. The sequence of all of the intron-exon junctions has been determined and used to develop methods for analyzing each hMLH1 exon for mutations. Using these methods to analyze a 3p-linked hereditary nonpolyposis colorectal carcinoma kindred, we have demonstrated that cancer susceptibility in this family is due to the inheritance of a frame shift mutation in the hMLH1 gene.
format	article
fullrecord	<record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_77113646</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>77113646</sourcerecordid><originalsourceid>FETCH-LOGICAL-h230t-c7231ac03d28f1a2e1830c4d8f50297e4bb3c048ed3b7d36da7099b90764712b3</originalsourceid><addsrcrecordid>eNqF0E1LxDAQBuAiyrqu_gQhB_FWyFeb9iiirrDiQT2XaZLaaJrUJD3s0X9uF4tXD8MwvA9zeI-yNSlYlQvOi-NsjTGu8oILepqdxfgxnwXBxSpbiYrQuqDr7PslhUmmKWjkO5R6jfppAIeedluCrJdTRODUPGD30cQDAmQhvM9QB61MgrBHzrvR2_3oD0R664OWCSySEKRxfgD0aZyaOep8QIPtCRqmBMl4F8-zkw5s1BfL3mRv93evt9t89_zweHuzy3vKcMqloIyAxEzRqiNANakYllxVXYFpLTRvWyYxr7RirVCsVCBwXbc1FiUXhLZsk13__h2D_5p0TM1gotTWgtN-io0QhLCSl_9CUgqOi4rP8HKBUzto1YzBDHMbzVLunF8tOUQJtgvgpIl_jLGaUEbZD21DhI8</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>16740584</pqid></control><display><type>article</type><title>Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations</title><source>EZB Electronic Journals Library</source><creator>KOLODNER, R. D ; HALL, N. R ; BISHOP, D. T ; LIPFORD, J ; KANE, M. F ; MORRISON, P. T ; FINAN, P. J ; BURN, J ; CHAPMAN, P ; EARABINO, C ; MERCHANT, E</creator><creatorcontrib>KOLODNER, R. D ; HALL, N. R ; BISHOP, D. T ; LIPFORD, J ; KANE, M. F ; MORRISON, P. T ; FINAN, P. J ; BURN, J ; CHAPMAN, P ; EARABINO, C ; MERCHANT, E</creatorcontrib><description>Hereditary nonpolyposis colorectal carcinoma is a major cancer susceptibility syndrome known to be caused by inheritance of mutations in at least four genes such as hMSH2, hMLH1, hPMS1, and hPMS2 which encode components of a DNA mismatch repair system. The hMLH1 genomic locus on chromosome 3p has been cloned and shown to cover approximately 58 kilobases of genomic DNA and contain 19 exons. The sequence of all of the intron-exon junctions has been determined and used to develop methods for analyzing each hMLH1 exon for mutations. Using these methods to analyze a 3p-linked hereditary nonpolyposis colorectal carcinoma kindred, we have demonstrated that cancer susceptibility in this family is due to the inheritance of a frame shift mutation in the hMLH1 gene.</description><identifier>ISSN: 0008-5472</identifier><identifier>EISSN: 1538-7445</identifier><identifier>PMID: 7812952</identifier><identifier>CODEN: CNREA8</identifier><language>eng</language><publisher>Philadelphia, PA: American Association for Cancer Research</publisher><subject>Base Sequence ; Biological and medical sciences ; chromosome 3 ; Chromosomes, Human, Pair 3 - genetics ; colorectal carcinoma ; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics ; DNA Mutational Analysis ; Exons - genetics ; family studies ; Female ; Gastroenterology. Liver. Pancreas. Abdomen ; Humans ; Male ; man ; Medical sciences ; MLH1 gene ; Molecular Sequence Data ; mutation ; Mutation - genetics ; Pedigree ; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus ; Tumors</subject><ispartof>Cancer research (Chicago, Ill.), 1995-01, Vol.55 (2), p.242-248</ispartof><rights>1995 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3391232$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7812952$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>KOLODNER, R. D</creatorcontrib><creatorcontrib>HALL, N. R</creatorcontrib><creatorcontrib>BISHOP, D. T</creatorcontrib><creatorcontrib>LIPFORD, J</creatorcontrib><creatorcontrib>KANE, M. F</creatorcontrib><creatorcontrib>MORRISON, P. T</creatorcontrib><creatorcontrib>FINAN, P. J</creatorcontrib><creatorcontrib>BURN, J</creatorcontrib><creatorcontrib>CHAPMAN, P</creatorcontrib><creatorcontrib>EARABINO, C</creatorcontrib><creatorcontrib>MERCHANT, E</creatorcontrib><title>Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations</title><title>Cancer research (Chicago, Ill.)</title><addtitle>Cancer Res</addtitle><description>Hereditary nonpolyposis colorectal carcinoma is a major cancer susceptibility syndrome known to be caused by inheritance of mutations in at least four genes such as hMSH2, hMLH1, hPMS1, and hPMS2 which encode components of a DNA mismatch repair system. The hMLH1 genomic locus on chromosome 3p has been cloned and shown to cover approximately 58 kilobases of genomic DNA and contain 19 exons. The sequence of all of the intron-exon junctions has been determined and used to develop methods for analyzing each hMLH1 exon for mutations. Using these methods to analyze a 3p-linked hereditary nonpolyposis colorectal carcinoma kindred, we have demonstrated that cancer susceptibility in this family is due to the inheritance of a frame shift mutation in the hMLH1 gene.</description><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>chromosome 3</subject><subject>Chromosomes, Human, Pair 3 - genetics</subject><subject>colorectal carcinoma</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Exons - genetics</subject><subject>family studies</subject><subject>Female</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Humans</subject><subject>Male</subject><subject>man</subject><subject>Medical sciences</subject><subject>MLH1 gene</subject><subject>Molecular Sequence Data</subject><subject>mutation</subject><subject>Mutation - genetics</subject><subject>Pedigree</subject><subject>Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</subject><subject>Tumors</subject><issn>0008-5472</issn><issn>1538-7445</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><recordid>eNqF0E1LxDAQBuAiyrqu_gQhB_FWyFeb9iiirrDiQT2XaZLaaJrUJD3s0X9uF4tXD8MwvA9zeI-yNSlYlQvOi-NsjTGu8oILepqdxfgxnwXBxSpbiYrQuqDr7PslhUmmKWjkO5R6jfppAIeedluCrJdTRODUPGD30cQDAmQhvM9QB61MgrBHzrvR2_3oD0R664OWCSySEKRxfgD0aZyaOep8QIPtCRqmBMl4F8-zkw5s1BfL3mRv93evt9t89_zweHuzy3vKcMqloIyAxEzRqiNANakYllxVXYFpLTRvWyYxr7RirVCsVCBwXbc1FiUXhLZsk13__h2D_5p0TM1gotTWgtN-io0QhLCSl_9CUgqOi4rP8HKBUzto1YzBDHMbzVLunF8tOUQJtgvgpIl_jLGaUEbZD21DhI8</recordid><startdate>19950115</startdate><enddate>19950115</enddate><creator>KOLODNER, R. D</creator><creator>HALL, N. R</creator><creator>BISHOP, D. T</creator><creator>LIPFORD, J</creator><creator>KANE, M. F</creator><creator>MORRISON, P. T</creator><creator>FINAN, P. J</creator><creator>BURN, J</creator><creator>CHAPMAN, P</creator><creator>EARABINO, C</creator><creator>MERCHANT, E</creator><general>American Association for Cancer Research</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7T3</scope><scope>7TO</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>19950115</creationdate><title>Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations</title><author>KOLODNER, R. D ; HALL, N. R ; BISHOP, D. T ; LIPFORD, J ; KANE, M. F ; MORRISON, P. T ; FINAN, P. J ; BURN, J ; CHAPMAN, P ; EARABINO, C ; MERCHANT, E</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-h230t-c7231ac03d28f1a2e1830c4d8f50297e4bb3c048ed3b7d36da7099b90764712b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>chromosome 3</topic><topic>Chromosomes, Human, Pair 3 - genetics</topic><topic>colorectal carcinoma</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Exons - genetics</topic><topic>family studies</topic><topic>Female</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Humans</topic><topic>Male</topic><topic>man</topic><topic>Medical sciences</topic><topic>MLH1 gene</topic><topic>Molecular Sequence Data</topic><topic>mutation</topic><topic>Mutation - genetics</topic><topic>Pedigree</topic><topic>Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>KOLODNER, R. D</creatorcontrib><creatorcontrib>HALL, N. R</creatorcontrib><creatorcontrib>BISHOP, D. T</creatorcontrib><creatorcontrib>LIPFORD, J</creatorcontrib><creatorcontrib>KANE, M. F</creatorcontrib><creatorcontrib>MORRISON, P. T</creatorcontrib><creatorcontrib>FINAN, P. J</creatorcontrib><creatorcontrib>BURN, J</creatorcontrib><creatorcontrib>CHAPMAN, P</creatorcontrib><creatorcontrib>EARABINO, C</creatorcontrib><creatorcontrib>MERCHANT, E</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>Human Genome Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Cancer research (Chicago, Ill.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>KOLODNER, R. D</au><au>HALL, N. R</au><au>BISHOP, D. T</au><au>LIPFORD, J</au><au>KANE, M. F</au><au>MORRISON, P. T</au><au>FINAN, P. J</au><au>BURN, J</au><au>CHAPMAN, P</au><au>EARABINO, C</au><au>MERCHANT, E</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations</atitle><jtitle>Cancer research (Chicago, Ill.)</jtitle><addtitle>Cancer Res</addtitle><date>1995-01-15</date><risdate>1995</risdate><volume>55</volume><issue>2</issue><spage>242</spage><epage>248</epage><pages>242-248</pages><issn>0008-5472</issn><eissn>1538-7445</eissn><coden>CNREA8</coden><abstract>Hereditary nonpolyposis colorectal carcinoma is a major cancer susceptibility syndrome known to be caused by inheritance of mutations in at least four genes such as hMSH2, hMLH1, hPMS1, and hPMS2 which encode components of a DNA mismatch repair system. The hMLH1 genomic locus on chromosome 3p has been cloned and shown to cover approximately 58 kilobases of genomic DNA and contain 19 exons. The sequence of all of the intron-exon junctions has been determined and used to develop methods for analyzing each hMLH1 exon for mutations. Using these methods to analyze a 3p-linked hereditary nonpolyposis colorectal carcinoma kindred, we have demonstrated that cancer susceptibility in this family is due to the inheritance of a frame shift mutation in the hMLH1 gene.</abstract><cop>Philadelphia, PA</cop><pub>American Association for Cancer Research</pub><pmid>7812952</pmid><tpages>7</tpages></addata></record>
fulltext	fulltext
identifier	ISSN: 0008-5472
ispartof	Cancer research (Chicago, Ill.), 1995-01, Vol.55 (2), p.242-248
issn	0008-5472 1538-7445
language	eng
recordid	cdi_proquest_miscellaneous_77113646
source	EZB Electronic Journals Library
subjects	Base Sequence Biological and medical sciences chromosome 3 Chromosomes, Human, Pair 3 - genetics colorectal carcinoma Colorectal Neoplasms, Hereditary Nonpolyposis - genetics DNA Mutational Analysis Exons - genetics family studies Female Gastroenterology. Liver. Pancreas. Abdomen Humans Male man Medical sciences MLH1 gene Molecular Sequence Data mutation Mutation - genetics Pedigree Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Tumors
title	Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations
url	http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-29T08%3A35%3A27IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Structure%20of%20the%20human%20MLH1%20locus%20and%20analysis%20of%20a%20large%20hereditary%20nonpolyposis%20colorectal%20carcinoma%20kindred%20for%20mlh1%20mutations&rft.jtitle=Cancer%20research%20(Chicago,%20Ill.)&rft.au=KOLODNER,%20R.%20D&rft.date=1995-01-15&rft.volume=55&rft.issue=2&rft.spage=242&rft.epage=248&rft.pages=242-248&rft.issn=0008-5472&rft.eissn=1538-7445&rft.coden=CNREA8&rft_id=info:doi/&rft_dat=%3Cproquest_pubme%3E77113646%3C/proquest_pubme%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-h230t-c7231ac03d28f1a2e1830c4d8f50297e4bb3c048ed3b7d36da7099b90764712b3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=16740584&rft_id=info:pmid/7812952&rfr_iscdi=true