{"id":"https://openalex.org/W2160656399","doi":null,"title":"Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway.","display_name":"Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway.","publication_year":2003,"publication_date":"2003-11-15","ids":{"openalex":"https://openalex.org/W2160656399","mag":"2160656399","pmid":"https://pubmed.ncbi.nlm.nih.gov/14633673"},"language":"en","primary_location":{"id":"pmid:14633673","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/14633673","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 research","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":"https://openalex.org/A5020220461","display_name":"Lara Rachel Lipton","orcid":"https://orcid.org/0000-0002-4891-5870","observed_orcids":["https://orcid.org/0000-0002-4891-5870"]},"institutions":[{"id":"https://openalex.org/I2801316944","display_name":"Cancer Research UK","ror":"https://ror.org/054225q67","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2801316944"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Lara Lipton","raw_affiliation_strings":["Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research United Kingdom, London WC2A 3PX, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research United Kingdom, London WC2A 3PX, United Kingdom","institution_ids":["https://openalex.org/I2801316944"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057241786","display_name":"Sarah E. R. Halford","orcid":"https://orcid.org/0000-0002-8110-9766","observed_orcids":["https://orcid.org/0000-0002-8110-9766"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sarah E Halford","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Victoria Johnson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Victoria Johnson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111842015","display_name":"Marco R. Novelli","orcid":"https://orcid.org/0000-0001-6429-9134","observed_orcids":["https://orcid.org/0000-0001-6429-9134"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Marco R Novelli","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Angela Jones","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Angela Jones","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109830531","display_name":"Carole Cummings","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Carole Cummings","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109924746","display_name":"Ella Barclay","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ella Barclay","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018376840","display_name":"Oliver M. Sieber","orcid":"https://orcid.org/0000-0001-9480-0786","observed_orcids":["https://orcid.org/0000-0001-9480-0786"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Oliver Sieber","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087085768","display_name":"Amir Taher Eftekhar Sadat","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Amir Sadat","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067433164","display_name":"Marie-Luise Bisgaard","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Marie-Luise Bisgaard","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112075972","display_name":"Shirley Victoria Hodgson","orcid":"https://orcid.org/0000-0003-0403-0816","observed_orcids":["https://orcid.org/0000-0003-0403-0816"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shirley V Hodgson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028725974","display_name":"Lauri A. Aaltonen","orcid":"https://orcid.org/0000-0001-6839-4286","observed_orcids":["https://orcid.org/0000-0001-6839-4286"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lauri A Aaltonen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058308840","display_name":"Huw J. W. Thomas","orcid":"https://orcid.org/0000-0002-6465-229X","observed_orcids":["https://orcid.org/0000-0002-6465-229X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Huw J W Thomas","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5040598662","display_name":"Ian P.M. Tomlinson","orcid":"https://orcid.org/0000-0003-3037-1470","observed_orcids":["https://orcid.org/0000-0003-3037-1470","https://orcid.org/0000-0003-3103-6535"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ian P M Tomlinson","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":12.887,"has_fulltext":false,"cited_by_count":227,"citation_normalized_percentile":{"value":0.99063095,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":100},"biblio":{"volume":"63","issue":"22","first_page":"7595","last_page":"9"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":1.0,"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":1.0,"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/T11067","display_name":"Colorectal Cancer Treatments and Studies","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.0,"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/myh-associated-polyposis","display_name":"MYH-associated polyposis","score":0.9990000128746033},{"id":"https://openalex.org/keywords/colorectal-cancer","display_name":"colorectal cancer","score":0.6809999942779541},{"id":"https://openalex.org/keywords/carcinogenesis","display_name":"carcinogenesis","score":0.800000011920929},{"id":"https://openalex.org/keywords/chromosomal-instability","display_name":"chromosomal instability","score":0.8410000205039978},{"id":"https://openalex.org/keywords/microsatellite-instability","display_name":"microsatellite instability","score":0.9990000128746033},{"id":"https://openalex.org/keywords/apc-mutation","display_name":"APC mutation","score":0.8050000071525574},{"id":"https://openalex.org/keywords/kras-mutation","display_name":"KRAS mutation","score":0.8450000286102295},{"id":"https://openalex.org/keywords/braf-mutation","display_name":"BRAF mutation","score":0.9150000214576721},{"id":"https://openalex.org/keywords/tp53-mutation","display_name":"TP53 mutation","score":0.9380000233650208},{"id":"https://openalex.org/keywords/p53-overexpression","display_name":"p53 overexpression","score":0.9950000047683716},{"id":"https://openalex.org/keywords/smad4","display_name":"SMAD4","score":0.6759999990463257},{"id":"https://openalex.org/keywords/hypermutation","display_name":"hypermutation","score":0.6539999842643738}],"concepts":[{"id":"https://openalex.org/C2779767149","wikidata":"https://www.wikidata.org/wiki/Q488212","display_name":"Microsatellite instability","level":5,"score":0.6860445737838745},{"id":"https://openalex.org/C141496672","wikidata":"https://www.wikidata.org/wiki/Q14883437","display_name":"MUTYH","level":5,"score":0.6555050611495972},{"id":"https://openalex.org/C128526571","wikidata":"https://www.wikidata.org/wiki/Q619302","display_name":"Somatic hypermutation","level":4,"score":0.6468899250030518},{"id":"https://openalex.org/C555283112","wikidata":"https://www.wikidata.org/wiki/Q1637543","display_name":"Carcinogenesis","level":3,"score":0.6331987380981445},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.626813530921936},{"id":"https://openalex.org/C187206112","wikidata":"https://www.wikidata.org/wiki/Q3113091","display_name":"Base excision repair","level":4,"score":0.5935133099555969},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.5870673656463623},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.5241289734840393},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5201802253723145},{"id":"https://openalex.org/C60748783","wikidata":"https://www.wikidata.org/wiki/Q2984243","display_name":"DNA mismatch repair","level":4,"score":0.4486890733242035},{"id":"https://openalex.org/C526805850","wikidata":"https://www.wikidata.org/wiki/Q188874","display_name":"Colorectal cancer","level":3,"score":0.42021989822387695},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3906749188899994},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.36766618490219116},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.32872533798217773},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3254050016403198},{"id":"https://openalex.org/C134935766","wikidata":"https://www.wikidata.org/wiki/Q210538","display_name":"DNA repair","level":3,"score":0.24549901485443115},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.2220381796360016},{"id":"https://openalex.org/C61320498","wikidata":"https://www.wikidata.org/wiki/Q265193","display_name":"Microsatellite","level":4,"score":0.13454031944274902},{"id":"https://openalex.org/C2778453870","wikidata":"https://www.wikidata.org/wiki/Q188930","display_name":"B cell","level":3,"score":0.0},{"id":"https://openalex.org/C159654299","wikidata":"https://www.wikidata.org/wiki/Q79460","display_name":"Antibody","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000236","descriptor_name":"Adenoma","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D000236","descriptor_name":"Adenoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004260","descriptor_name":"DNA Repair","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":"D008875","descriptor_name":"Middle Aged","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":false},{"descriptor_ui":"D009699","descriptor_name":"N-Glycosyl Hydrolases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011125","descriptor_name":"Adenomatous Polyposis Coli","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D011125","descriptor_name":"Adenomatous Polyposis Coli","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011905","descriptor_name":"Genes, ras","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015179","descriptor_name":"Colorectal Neoplasms","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D015179","descriptor_name":"Colorectal Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D045647","descriptor_name":"DNA Glycosylases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"pmid:14633673","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/14633673","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 research","raw_type":"Journal Article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:189327","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/189327/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Cancer Research , 63 (22) pp. 7595-7599. (2003)","raw_type":"Article"},{"id":"mag:2160656399","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/14633673","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":[{"score":0.9537000060081482,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"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":17,"referenced_works":["https://openalex.org/W1506004759","https://openalex.org/W1520825092","https://openalex.org/W1564105163","https://openalex.org/W2026895762","https://openalex.org/W2029959077","https://openalex.org/W2033166156","https://openalex.org/W2043692125","https://openalex.org/W2047151046","https://openalex.org/W2065350476","https://openalex.org/W2071841826","https://openalex.org/W2094088791","https://openalex.org/W2128146359","https://openalex.org/W2138494572","https://openalex.org/W2162318702","https://openalex.org/W2167168378","https://openalex.org/W2319752208","https://openalex.org/W2335435134"],"related_works":["https://openalex.org/W2120955134","https://openalex.org/W1988390013","https://openalex.org/W2142945211","https://openalex.org/W2097222740","https://openalex.org/W2167168378","https://openalex.org/W2092988685","https://openalex.org/W2978298624","https://openalex.org/W2296671097","https://openalex.org/W2114314214","https://openalex.org/W2100889963"],"abstract_inverted_index":{"Colorectal":[0],"carcinomas":[1],"develop":[2],"according":[3],"to":[4,91,151,189],"particular":[5],"genetic":[6,24,155],"pathways,":[7],"including":[8],"the":[9,23,79,84,101,113,162],"chromosomal":[10],"instability":[11,14],"(CIN+),":[12],"microsatellite":[13],"(MSI+)":[15],"and":[16,37,119,164,187],"MSI-":[17],"CIN-":[18],"routes.":[19],"We":[20,67,95],"have":[21],"determined":[22],"pathway":[25],"in":[26,48,60,62,74,107,181],"patients":[27],"with":[28,64,157],"MYH-associated":[29],"polyposis":[30],"(MAP),":[31],"a":[32,54,153],"syndrome":[33],"of":[34,57,78,83,88,112,160,178],"colorectal":[35],"adenomas":[36],"cancer":[38],"that":[39,69],"results":[40],"from":[41],"defective":[42,65],"base":[43],"excision":[44],"repair":[45],"(BER).":[46],"As":[47],"previous":[49],"studies,":[50],"MAP":[51,75,114,148,182],"tumors":[52,149,183],"showed":[53],"high":[55],"frequency":[56],"G>T":[58,134],"mutations":[59,71,99,126,145,180],"APC,":[61],"accordance":[63],"BER.":[66],"found":[68,96],"K-ras":[70],"were":[72,116,127,131,146],"common":[73],"tumors,":[76],"all":[77,111],"changes":[80],"comprising":[81],"conversion":[82],"first":[85],"guanine":[86,192],"residue":[87],"codon":[89,102],"12":[90],"thymidine":[92],"(G12C,":[93],"GGT>TGT).":[94],"no":[97],"BRAF":[98],"at":[100],"599":[103],"hotspot":[104],"or":[105,143,174],"elsewhere":[106],"exon":[108],"14.":[109],"Almost":[110],"cancers":[115],"near-diploid":[117],"(CIN-),":[118],"none":[120],"was":[121],"MSI+.":[122],"A":[123],"few":[124],"p53":[125,136],"found,":[128],"but":[129],"these":[130],"not":[132],"predominantly":[133],"changes.":[135],"overexpression":[137],"was,":[138],"however,":[139],"frequent.":[140],"No":[141],"SMAD4":[142],"TGFBIIR":[144],"found.":[147],"appear":[150],"follow":[152],"distinct":[154],"pathway,":[156],"some":[158],"features":[159],"both":[161,185],"CIN":[163,173],"MSI":[165],"pathways.":[166],"BER":[167],"deficiency":[168],"is":[169],"rarely":[170],"accompanied":[171],"by":[172],"MSI.":[175],"The":[176],"spectrum":[177],"somatic":[179],"reflects":[184],"selection":[186],"hypermutation":[188],"which":[190],"certain":[191],"residues":[193],"are":[194],"particularly":[195],"prone.":[196]},"counts_by_year":[{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":7},{"year":2019,"cited_by_count":7},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":7},{"year":2015,"cited_by_count":12},{"year":2014,"cited_by_count":13},{"year":2013,"cited_by_count":15},{"year":2012,"cited_by_count":19}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
