{"id":"https://openalex.org/W2181998992","doi":null,"title":"Mutations/polymorphisms in the 55 kDa subunit of DNA polymerase epsilon in human colorectal cancer.","display_name":"Mutations/polymorphisms in the 55 kDa subunit of DNA polymerase epsilon in human colorectal cancer.","publication_year":2009,"publication_date":"2009-11-01","ids":{"openalex":"https://openalex.org/W2181998992","mag":"2181998992","pmid":"https://pubmed.ncbi.nlm.nih.gov/20065316"},"language":"en","primary_location":{"id":"pmid:20065316","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20065316","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer genomics & proteomics","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Qi Zhou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I155660961","display_name":"University of Turku","ror":"https://ror.org/05vghhr25","country_code":"FI","type":"education","lineage":["https://openalex.org/I155660961"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Qi Zhou","raw_affiliation_strings":["Department of Pathology, University of Turku, FIN-20520 Turku, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, University of Turku, FIN-20520 Turku, Finland","institution_ids":["https://openalex.org/I155660961"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000727583","display_name":"Kati Talvinen","orcid":"https://orcid.org/0000-0001-6002-5347","observed_orcids":["https://orcid.org/0000-0001-6002-5347"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kati Talvinen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090813367","display_name":"Jari T. T. Sundstr\u00f6m","orcid":"https://orcid.org/0000-0002-0800-970X","observed_orcids":["https://orcid.org/0000-0002-0800-970X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jari Sundstr\u00f6m","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029995005","display_name":"Adem Elzagheid","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Adem Elzagheid","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002105868","display_name":"Helmut Pospiech","orcid":"https://orcid.org/0000-0002-5255-0747","observed_orcids":["https://orcid.org/0000-0002-5255-0747"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Helmut Pospiech","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069361080","display_name":"Juhani Eerik Syv\u00e4oja","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Juhani E Syv\u00e4oja","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5109173482","display_name":"Yrj\u00f6 U. Collan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yrj\u00f6 Collan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.9205,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":{"value":0.76427256,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"6","issue":"6","first_page":"297","last_page":"304"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.9965999722480774,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.9965999722480774,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.0024999999441206455,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/dna-polymerase-epsilon","display_name":"DNA polymerase epsilon","score":0.9990000128746033},{"id":"https://openalex.org/keywords/pold1","display_name":"POLD1","score":0.6809999942779541},{"id":"https://openalex.org/keywords/colorectal-cancer","display_name":"colorectal cancer","score":0.9700000286102295},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.7440000176429749},{"id":"https://openalex.org/keywords/polymorphism","display_name":"polymorphism","score":0.890999972820282},{"id":"https://openalex.org/keywords/mutation-hotspots","display_name":"mutational hotspots","score":0.800000011920929},{"id":"https://openalex.org/keywords/carcinogenesis","display_name":"carcinogenesis","score":0.7630000114440918}],"concepts":[{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.6615723371505737},{"id":"https://openalex.org/C2756471","wikidata":"https://www.wikidata.org/wiki/Q206286","display_name":"DNA polymerase","level":3,"score":0.6285654902458191},{"id":"https://openalex.org/C82381507","wikidata":"https://www.wikidata.org/wiki/Q416878","display_name":"Polymerase","level":3,"score":0.6145092248916626},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.5789150595664978},{"id":"https://openalex.org/C526805850","wikidata":"https://www.wikidata.org/wiki/Q188874","display_name":"Colorectal cancer","level":3,"score":0.5627298951148987},{"id":"https://openalex.org/C194232998","wikidata":"https://www.wikidata.org/wiki/Q1606712","display_name":"Transition (genetics)","level":3,"score":0.5612502694129944},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5496318936347961},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4348067343235016},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.4346567392349243},{"id":"https://openalex.org/C94671646","wikidata":"https://www.wikidata.org/wiki/Q207551","display_name":"Intron","level":3,"score":0.41878488659858704},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4116632640361786},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3897186815738678},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.2925678789615631}],"mesh":[{"descriptor_ui":"D000075223","descriptor_name":"Poly-ADP-Ribose Binding Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000230","descriptor_name":"Adenocarcinoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000230","descriptor_name":"Adenocarcinoma","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004257","descriptor_name":"DNA Polymerase II","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009367","descriptor_name":"Neoplasm Staging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015179","descriptor_name":"Colorectal Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015179","descriptor_name":"Colorectal Neoplasms","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D021122","descriptor_name":"Protein Subunits","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:20065316","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20065316","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer genomics & proteomics","raw_type":"Journal Article"},{"id":"mag:2181998992","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20065316","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8999999761581421}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":35,"referenced_works":["https://openalex.org/W204266208","https://openalex.org/W1608038670","https://openalex.org/W1639113761","https://openalex.org/W1767008824","https://openalex.org/W1970295158","https://openalex.org/W1979970304","https://openalex.org/W1982205070","https://openalex.org/W1985547423","https://openalex.org/W1989653345","https://openalex.org/W2002664886","https://openalex.org/W2007388520","https://openalex.org/W2030067277","https://openalex.org/W2035392704","https://openalex.org/W2041282815","https://openalex.org/W2044897807","https://openalex.org/W2045143812","https://openalex.org/W2054325873","https://openalex.org/W2058646495","https://openalex.org/W2070264012","https://openalex.org/W2078078350","https://openalex.org/W2079761426","https://openalex.org/W2079815995","https://openalex.org/W2099112560","https://openalex.org/W2111413471","https://openalex.org/W2123797891","https://openalex.org/W2140996395","https://openalex.org/W2142184025","https://openalex.org/W2151798039","https://openalex.org/W2157986029","https://openalex.org/W2163221081","https://openalex.org/W2168200069","https://openalex.org/W2168581769","https://openalex.org/W2171812369","https://openalex.org/W2184734705","https://openalex.org/W2419260356"],"related_works":["https://openalex.org/W2171812369","https://openalex.org/W2416313346","https://openalex.org/W1986744979","https://openalex.org/W368596977","https://openalex.org/W7117677340","https://openalex.org/W4402319981","https://openalex.org/W1604315162","https://openalex.org/W2079761426","https://openalex.org/W2047950724","https://openalex.org/W2275880824"],"abstract_inverted_index":{"BACKGROUND:":[0],"Defects":[1],"of":[2,29,72,118],"some":[3],"DNA":[4,14,30,39,59,62],"polymerases":[5],"have":[6],"shown":[7],"associations":[8],"with":[9,51],"cancer,":[10,148],"but":[11],"data":[12],"on":[13],"polymerase":[15,31,52,63],"epsilon":[16,32,64],"are":[17],"limited.":[18],"This":[19],"study":[20],"investigated":[21],"mutations":[22],"in":[23,33,69,115,146,159,163],"the":[24,73,119,139,149,160],"55":[25],"kDa":[26],"subunit":[27],"gene":[28,65],"colorectal":[34,43,165],"cancer.":[35,166],"MATERIALS":[36],"AND":[37],"METHODS:":[38],"from":[40],"16":[41,74,120],"human":[42],"cancer":[44,122],"and":[45,58,91,127,129,134],"9":[46],"control":[47],"samples":[48,78],"was":[49,110],"studied":[50],"chain":[53],"reaction-single-strand":[54],"comformation":[55],"polymorphism":[56],"analysis":[57],"sequencing.":[60],"RESULTS:":[61],"alterations":[66],"were":[67],"identified":[68],"5":[70],"out":[71,117],"cases":[75,123],"(31.2%).":[76],"Two":[77],"showed":[79,100],"a":[80,153],"T-C":[81],"transition":[82,94,103],"at":[83,95,104,112],"exon":[84],"17":[85],"(potential":[86],"tyrosine":[87],"to":[88],"histidine":[89],"substitution),":[90],"an":[92,101],"A-G":[93,102],"intron":[96,105,113],"7;":[97],"one":[98],"sample":[99],"8.":[106],"An":[107],"AATT":[108,140],"deletion":[109,141],"observed":[111],"18":[114],"3":[116],"colon":[121],"(grades":[124],"2,":[125,128],"3,":[126],"Dukes'":[130],"classes":[131],"C,":[132,135],"D,":[133],"respectively).":[136],"CONCLUSION:":[137],"Because":[138],"has":[142],"also":[143],"been":[144],"found":[145],"breast":[147],"region":[150],"may":[151],"be":[152],"mutation":[154],"hot":[155],"spot,":[156],"possibly":[157],"involved":[158],"carcinogenetic":[161],"path":[162],"advanced":[164]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}