hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients
Germline mutations in genes encoding proteins involved in DNA mismatch repair are responsible for the autosomal dominantly inherited cancer predisposition syndrome hereditary nonpolyposis colorectal cancer (HNPCC). We describe here analysis of hMLH1 and hMSH2 in nine Greek families referred to our c...
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| Veröffentlicht in: | British journal of cancer 2005-01, Vol.92 (2), p.396-404 |
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| creator | Apessos, A Mihalatos, M Danielidis, I Kallimanis, G Agnantis, N J Triantafillidis, J K Fountzilas, G Kosmidis, P A Razis, E Georgoulias, V A Nasioulas, G |
| description | Germline mutations in genes encoding proteins involved in DNA mismatch repair are responsible for the autosomal dominantly inherited cancer predisposition syndrome hereditary nonpolyposis colorectal cancer (HNPCC). We describe here analysis of
hMLH1
and
hMSH2
in nine Greek families referred to our centre for HNPCC. A unique disease-causing mutation has been identified in seven out of nine (78%) families. The types of mutations identified are nonsense (five out of seven) (
hMLH1
: E557X, R226X;
hMSH2
: Q158X, R359X and R711X), a 2 bp deletion (
hMSH2
1704_1705delAG) and a 2.2 kb
Alu
-mediated deletion encompassing exon 3 of the
hMSH2
gene. The majority of mutations identified in this cohort are found in
hMSH2
(77.7%). Furthermore, four of the mutations identified are novel. Finally, a number of novel benign variations were observed in both genes. This is the first report of HNPCC analysis in the Greek population, further underscoring the differences observed in the various geographic populations. |
| doi_str_mv | 10.1038/sj.bjc.6602260 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2361846</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>67419404</sourcerecordid><originalsourceid>FETCH-LOGICAL-c516t-515a3dd1ebdaee6961e541fd170b73796ee150f66e762e9ea55d6ed08c1474163</originalsourceid><addsrcrecordid>eNqFkd2L1DAUxYMo7uzqq48SBPets0naJM2LIIPuCDuu-PEcMuntTGubjEkq7H9v1imOCuJTCPeXc87NQegZJUtKyvoq9sttb5dCEMYEeYAWlJesoDWTD9GCECILohg5Q-cx9vmqSC0fozPKBedckAW63W8-rRnuIk57wKOPCVs_jt4Nd3ickknQ4M3mI96BA9w5bPJ470PCvsXXAeArXr__sFrhg0kduBSfoEetGSI8nc8L9OXtm8-rdXFze_1u9fqmsJyKVHDKTdk0FLaNARBKUOAVbRsqyVaWUgkAykkrBEjBQIHhvBHQkNrSSlZUlBfo1VH3MG1HaGz2DmbQh9CNJtxpbzr958R1e73z3zUrBa2re4HLWSD4bxPEpMcuWhgG48BPUYtsoypS_RekOS8TPxVf_AX2fgou_4JmTCnFakUytDxCNvgYA7S_IlOi7xvVsde5UT03mh88_33REz5XmIGXM2CiNUMbjLNdPHGC10rWMnNXRy7mkdtBOMX7h_UPYDm4IA</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>229992890</pqid></control><display><type>article</type><title>hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients</title><source>MEDLINE</source><source>Nature</source><source>Springer Nature - Complete Springer Journals</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>Apessos, A ; Mihalatos, M ; Danielidis, I ; Kallimanis, G ; Agnantis, N J ; Triantafillidis, J K ; Fountzilas, G ; Kosmidis, P A ; Razis, E ; Georgoulias, V A ; Nasioulas, G</creator><creatorcontrib>Apessos, A ; Mihalatos, M ; Danielidis, I ; Kallimanis, G ; Agnantis, N J ; Triantafillidis, J K ; Fountzilas, G ; Kosmidis, P A ; Razis, E ; Georgoulias, V A ; Nasioulas, G ; HeHeGI ; HeCOG</creatorcontrib><description>Germline mutations in genes encoding proteins involved in DNA mismatch repair are responsible for the autosomal dominantly inherited cancer predisposition syndrome hereditary nonpolyposis colorectal cancer (HNPCC). We describe here analysis of
hMLH1
and
hMSH2
in nine Greek families referred to our centre for HNPCC. A unique disease-causing mutation has been identified in seven out of nine (78%) families. The types of mutations identified are nonsense (five out of seven) (
hMLH1
: E557X, R226X;
hMSH2
: Q158X, R359X and R711X), a 2 bp deletion (
hMSH2
1704_1705delAG) and a 2.2 kb
Alu
-mediated deletion encompassing exon 3 of the
hMSH2
gene. The majority of mutations identified in this cohort are found in
hMSH2
(77.7%). Furthermore, four of the mutations identified are novel. Finally, a number of novel benign variations were observed in both genes. This is the first report of HNPCC analysis in the Greek population, further underscoring the differences observed in the various geographic populations.</description><identifier>ISSN: 0007-0920</identifier><identifier>EISSN: 1532-1827</identifier><identifier>DOI: 10.1038/sj.bjc.6602260</identifier><identifier>PMID: 15655560</identifier><identifier>CODEN: BJCAAI</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Adaptor Proteins, Signal Transducing ; Base Sequence ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Carrier Proteins ; Chromatography, High Pressure Liquid ; Colorectal cancer ; Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology ; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics ; DNA-Binding Proteins - genetics ; Drug Resistance ; Endometrium ; Epidemiology ; Female ; Gastroenterology ; Genes ; Genetics and Genomics ; Greece ; Hospitals ; Humans ; Male ; Medical research ; Medical sciences ; Molecular Medicine ; Mutation ; MutL Protein Homolog 1 ; MutS Homolog 2 Protein ; Neoplasm Proteins - genetics ; Nuclear Proteins ; Oncology ; Pathology ; Pedigree ; Proto-Oncogene Proteins - genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Surveillance ; Tumors</subject><ispartof>British journal of cancer, 2005-01, Vol.92 (2), p.396-404</ispartof><rights>The Author(s) 2005</rights><rights>2005 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Jan 31, 2005</rights><rights>Copyright © 2005 Cancer Research UK 2005 Cancer Research UK</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c516t-515a3dd1ebdaee6961e541fd170b73796ee150f66e762e9ea55d6ed08c1474163</citedby><cites>FETCH-LOGICAL-c516t-515a3dd1ebdaee6961e541fd170b73796ee150f66e762e9ea55d6ed08c1474163</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2361846/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2361846/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,41488,42557,51319,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16589787$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15655560$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Apessos, A</creatorcontrib><creatorcontrib>Mihalatos, M</creatorcontrib><creatorcontrib>Danielidis, I</creatorcontrib><creatorcontrib>Kallimanis, G</creatorcontrib><creatorcontrib>Agnantis, N J</creatorcontrib><creatorcontrib>Triantafillidis, J K</creatorcontrib><creatorcontrib>Fountzilas, G</creatorcontrib><creatorcontrib>Kosmidis, P A</creatorcontrib><creatorcontrib>Razis, E</creatorcontrib><creatorcontrib>Georgoulias, V A</creatorcontrib><creatorcontrib>Nasioulas, G</creatorcontrib><creatorcontrib>HeHeGI</creatorcontrib><creatorcontrib>HeCOG</creatorcontrib><title>hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients</title><title>British journal of cancer</title><addtitle>Br J Cancer</addtitle><addtitle>Br J Cancer</addtitle><description>Germline mutations in genes encoding proteins involved in DNA mismatch repair are responsible for the autosomal dominantly inherited cancer predisposition syndrome hereditary nonpolyposis colorectal cancer (HNPCC). We describe here analysis of
hMLH1
and
hMSH2
in nine Greek families referred to our centre for HNPCC. A unique disease-causing mutation has been identified in seven out of nine (78%) families. The types of mutations identified are nonsense (five out of seven) (
hMLH1
: E557X, R226X;
hMSH2
: Q158X, R359X and R711X), a 2 bp deletion (
hMSH2
1704_1705delAG) and a 2.2 kb
Alu
-mediated deletion encompassing exon 3 of the
hMSH2
gene. The majority of mutations identified in this cohort are found in
hMSH2
(77.7%). Furthermore, four of the mutations identified are novel. Finally, a number of novel benign variations were observed in both genes. This is the first report of HNPCC analysis in the Greek population, further underscoring the differences observed in the various geographic populations.</description><subject>Adaptor Proteins, Signal Transducing</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Carrier Proteins</subject><subject>Chromatography, High Pressure Liquid</subject><subject>Colorectal cancer</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology</subject><subject>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Drug Resistance</subject><subject>Endometrium</subject><subject>Epidemiology</subject><subject>Female</subject><subject>Gastroenterology</subject><subject>Genes</subject><subject>Genetics and Genomics</subject><subject>Greece</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Male</subject><subject>Medical research</subject><subject>Medical sciences</subject><subject>Molecular Medicine</subject><subject>Mutation</subject><subject>MutL Protein Homolog 1</subject><subject>MutS Homolog 2 Protein</subject><subject>Neoplasm Proteins - genetics</subject><subject>Nuclear Proteins</subject><subject>Oncology</subject><subject>Pathology</subject><subject>Pedigree</subject><subject>Proto-Oncogene Proteins - genetics</subject><subject>Reverse Transcriptase Polymerase Chain Reaction</subject><subject>Surveillance</subject><subject>Tumors</subject><issn>0007-0920</issn><issn>1532-1827</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkd2L1DAUxYMo7uzqq48SBPets0naJM2LIIPuCDuu-PEcMuntTGubjEkq7H9v1imOCuJTCPeXc87NQegZJUtKyvoq9sttb5dCEMYEeYAWlJesoDWTD9GCECILohg5Q-cx9vmqSC0fozPKBedckAW63W8-rRnuIk57wKOPCVs_jt4Nd3ickknQ4M3mI96BA9w5bPJ470PCvsXXAeArXr__sFrhg0kduBSfoEetGSI8nc8L9OXtm8-rdXFze_1u9fqmsJyKVHDKTdk0FLaNARBKUOAVbRsqyVaWUgkAykkrBEjBQIHhvBHQkNrSSlZUlBfo1VH3MG1HaGz2DmbQh9CNJtxpbzr958R1e73z3zUrBa2re4HLWSD4bxPEpMcuWhgG48BPUYtsoypS_RekOS8TPxVf_AX2fgou_4JmTCnFakUytDxCNvgYA7S_IlOi7xvVsde5UT03mh88_33REz5XmIGXM2CiNUMbjLNdPHGC10rWMnNXRy7mkdtBOMX7h_UPYDm4IA</recordid><startdate>20050131</startdate><enddate>20050131</enddate><creator>Apessos, A</creator><creator>Mihalatos, M</creator><creator>Danielidis, I</creator><creator>Kallimanis, G</creator><creator>Agnantis, N J</creator><creator>Triantafillidis, J K</creator><creator>Fountzilas, G</creator><creator>Kosmidis, P A</creator><creator>Razis, E</creator><creator>Georgoulias, V A</creator><creator>Nasioulas, G</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><scope>C6C</scope><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>3V.</scope><scope>7RV</scope><scope>7TO</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB0</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20050131</creationdate><title>hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients</title><author>Apessos, A ; Mihalatos, M ; Danielidis, I ; Kallimanis, G ; Agnantis, N J ; Triantafillidis, J K ; Fountzilas, G ; Kosmidis, P A ; Razis, E ; Georgoulias, V A ; Nasioulas, G</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c516t-515a3dd1ebdaee6961e541fd170b73796ee150f66e762e9ea55d6ed08c1474163</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Adaptor Proteins, Signal Transducing</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Carrier Proteins</topic><topic>Chromatography, High Pressure Liquid</topic><topic>Colorectal cancer</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology</topic><topic>Colorectal Neoplasms, Hereditary Nonpolyposis - genetics</topic><topic>DNA-Binding Proteins - genetics</topic><topic>Drug Resistance</topic><topic>Endometrium</topic><topic>Epidemiology</topic><topic>Female</topic><topic>Gastroenterology</topic><topic>Genes</topic><topic>Genetics and Genomics</topic><topic>Greece</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Male</topic><topic>Medical research</topic><topic>Medical sciences</topic><topic>Molecular Medicine</topic><topic>Mutation</topic><topic>MutL Protein Homolog 1</topic><topic>MutS Homolog 2 Protein</topic><topic>Neoplasm Proteins - genetics</topic><topic>Nuclear Proteins</topic><topic>Oncology</topic><topic>Pathology</topic><topic>Pedigree</topic><topic>Proto-Oncogene Proteins - genetics</topic><topic>Reverse Transcriptase Polymerase Chain Reaction</topic><topic>Surveillance</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Apessos, A</creatorcontrib><creatorcontrib>Mihalatos, M</creatorcontrib><creatorcontrib>Danielidis, I</creatorcontrib><creatorcontrib>Kallimanis, G</creatorcontrib><creatorcontrib>Agnantis, N J</creatorcontrib><creatorcontrib>Triantafillidis, J K</creatorcontrib><creatorcontrib>Fountzilas, G</creatorcontrib><creatorcontrib>Kosmidis, P A</creatorcontrib><creatorcontrib>Razis, E</creatorcontrib><creatorcontrib>Georgoulias, V A</creatorcontrib><creatorcontrib>Nasioulas, G</creatorcontrib><creatorcontrib>HeHeGI</creatorcontrib><creatorcontrib>HeCOG</creatorcontrib><collection>Springer Nature OA Free Journals</collection><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>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>British journal of cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Apessos, A</au><au>Mihalatos, M</au><au>Danielidis, I</au><au>Kallimanis, G</au><au>Agnantis, N J</au><au>Triantafillidis, J K</au><au>Fountzilas, G</au><au>Kosmidis, P A</au><au>Razis, E</au><au>Georgoulias, V A</au><au>Nasioulas, G</au><aucorp>HeHeGI</aucorp><aucorp>HeCOG</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients</atitle><jtitle>British journal of cancer</jtitle><stitle>Br J Cancer</stitle><addtitle>Br J Cancer</addtitle><date>2005-01-31</date><risdate>2005</risdate><volume>92</volume><issue>2</issue><spage>396</spage><epage>404</epage><pages>396-404</pages><issn>0007-0920</issn><eissn>1532-1827</eissn><coden>BJCAAI</coden><abstract>Germline mutations in genes encoding proteins involved in DNA mismatch repair are responsible for the autosomal dominantly inherited cancer predisposition syndrome hereditary nonpolyposis colorectal cancer (HNPCC). We describe here analysis of
hMLH1
and
hMSH2
in nine Greek families referred to our centre for HNPCC. A unique disease-causing mutation has been identified in seven out of nine (78%) families. The types of mutations identified are nonsense (five out of seven) (
hMLH1
: E557X, R226X;
hMSH2
: Q158X, R359X and R711X), a 2 bp deletion (
hMSH2
1704_1705delAG) and a 2.2 kb
Alu
-mediated deletion encompassing exon 3 of the
hMSH2
gene. The majority of mutations identified in this cohort are found in
hMSH2
(77.7%). Furthermore, four of the mutations identified are novel. Finally, a number of novel benign variations were observed in both genes. This is the first report of HNPCC analysis in the Greek population, further underscoring the differences observed in the various geographic populations.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>15655560</pmid><doi>10.1038/sj.bjc.6602260</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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| language | eng |
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| source | MEDLINE; Nature; Springer Nature - Complete Springer Journals; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Adaptor Proteins, Signal Transducing Base Sequence Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Carrier Proteins Chromatography, High Pressure Liquid Colorectal cancer Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology Colorectal Neoplasms, Hereditary Nonpolyposis - genetics DNA-Binding Proteins - genetics Drug Resistance Endometrium Epidemiology Female Gastroenterology Genes Genetics and Genomics Greece Hospitals Humans Male Medical research Medical sciences Molecular Medicine Mutation MutL Protein Homolog 1 MutS Homolog 2 Protein Neoplasm Proteins - genetics Nuclear Proteins Oncology Pathology Pedigree Proto-Oncogene Proteins - genetics Reverse Transcriptase Polymerase Chain Reaction Surveillance Tumors |
| title | hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients |
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