{"id":"https://openalex.org/W2124802452","doi":"https://doi.org/10.1001/jama.2012.8780","title":"Prevalence and Phenotypes of APC and MUTYH Mutations in Patients With Multiple Colorectal Adenomas","display_name":"Prevalence and Phenotypes of APC and MUTYH Mutations in Patients With Multiple Colorectal Adenomas","publication_year":2012,"publication_date":"2012-07-31","ids":{"openalex":"https://openalex.org/W2124802452","doi":"https://doi.org/10.1001/jama.2012.8780","mag":"2124802452","pmid":"https://pubmed.ncbi.nlm.nih.gov/22851115"},"language":"en","primary_location":{"id":"doi:10.1001/jama.2012.8780","doi":"https://doi.org/10.1001/jama.2012.8780","is_oa":false,"landing_page_url":"https://doi.org/10.1001/jama.2012.8780","pdf_url":null,"source":{"id":"https://openalex.org/S172573765","display_name":"JAMA","issn_l":"0002-9955","issn":["0002-9955","0098-7484","1538-3598","2376-8118"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JAMA","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3770297","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5021274309","display_name":"Shilpa Grover","orcid":"https://orcid.org/0000-0001-6268-6843","observed_orcids":["https://orcid.org/0000-0001-6268-6843"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shilpa Grover","raw_affiliation_strings":["Division of Gastroenterology, Brigham and Women's Hospital, Boston, MA","Harvard Medical School, Boston, MA","Population Sciences Division, Dana-Farber Cancer Institute, Boston, MA","Program in Cancer Outcomes Research Training, Massachusetts General Hospital, Boston, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Gastroenterology, Brigham and Women's Hospital, Boston, MA","institution_ids":["https://openalex.org/I1283280774"]},{"raw_affiliation_string":"Harvard Medical School, Boston, MA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Population Sciences Division, Dana-Farber Cancer Institute, Boston, MA","institution_ids":["https://openalex.org/I4210117453"]},{"raw_affiliation_string":"Program in Cancer Outcomes Research Training, Massachusetts General Hospital, Boston, MA","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034561048","display_name":"Fay Kastrinos","orcid":"https://orcid.org/0000-0003-2518-0100","observed_orcids":["https://orcid.org/0000-0003-2518-0100"]},"institutions":[{"id":"https://openalex.org/I2799503643","display_name":"Columbia University Irving Medical Center","ror":"https://ror.org/01esghr10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799503643"]},{"id":"https://openalex.org/I4390039230","display_name":"Herbert Irving Comprehensive Cancer Center","ror":"https://ror.org/051kc1939","country_code":null,"type":"healthcare","lineage":["https://openalex.org/I4390039230"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Fay Kastrinos","raw_affiliation_strings":["Columbia University Medical Center, New York, NY","Herbert Irving Comprehensive Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Columbia University Medical Center, New York, NY","institution_ids":["https://openalex.org/I2799503643"]},{"raw_affiliation_string":"Herbert Irving Comprehensive Cancer Center, New York, NY","institution_ids":["https://openalex.org/I4390039230"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091435927","display_name":"Ewout Willem Steyerberg","orcid":"https://orcid.org/0000-0002-7787-0122","observed_orcids":["https://orcid.org/0000-0002-7787-0122"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Ewout W. Steyerberg","raw_affiliation_strings":["Center for Medical Decision Making, Erasmus Medical Center, Rotterdam, Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Decision Making, Erasmus Medical Center, Rotterdam, Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111516482","display_name":"Earl Francis Cook","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"E. Francis Cook","raw_affiliation_strings":["Harvard School of Public Health, Boston, MA","\u2021Harvard School of Public Health, Boston, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Harvard School of Public Health, Boston, MA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"\u2021Harvard School of Public Health, Boston, MA","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060959734","display_name":"Akriti Dewanwala","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Akriti Dewanwala","raw_affiliation_strings":["Population Sciences Division, Dana-Farber Cancer Institute, Boston, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Population Sciences Division, Dana-Farber Cancer Institute, Boston, MA","institution_ids":["https://openalex.org/I4210117453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005843104","display_name":"Lynn Anne Burbidge","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210166221","display_name":"Myriad Genetics","ror":"https://ror.org/05rpz9q70","country_code":"US","type":"company","lineage":["https://openalex.org/I4210166221"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lynn Anne Burbidge","raw_affiliation_strings":["Myriad Genetic Laboratories Inc., Salt Lake City, UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Myriad Genetic Laboratories Inc., Salt Lake City, UT","institution_ids":["https://openalex.org/I4210166221"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044051696","display_name":"RICHARD J. WENSTRUP","orcid":"https://orcid.org/0000-0002-8378-7886","observed_orcids":["https://orcid.org/0000-0002-8378-7886"]},"institutions":[{"id":"https://openalex.org/I4210166221","display_name":"Myriad Genetics","ror":"https://ror.org/05rpz9q70","country_code":"US","type":"company","lineage":["https://openalex.org/I4210166221"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard J. Wenstrup","raw_affiliation_strings":["Myriad Genetic Laboratories Inc., Salt Lake City, UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Myriad Genetic Laboratories Inc., Salt Lake City, UT","institution_ids":["https://openalex.org/I4210166221"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5079620607","display_name":"Sapna Syngal","orcid":"https://orcid.org/0000-0001-5487-7471","observed_orcids":["https://orcid.org/0000-0001-5487-7471"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Sapna Syngal","raw_affiliation_strings":["Division of Gastroenterology, Brigham and Women's Hospital, Boston, MA","Harvard Medical School, Boston, MA","Population Sciences Division, Dana-Farber Cancer Institute, Boston, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Gastroenterology, Brigham and Women's Hospital, Boston, MA","institution_ids":["https://openalex.org/I1283280774"]},{"raw_affiliation_string":"Harvard Medical School, Boston, MA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Population Sciences Division, Dana-Farber Cancer Institute, Boston, MA","institution_ids":["https://openalex.org/I4210117453"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5079620607"],"corresponding_institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984","https://openalex.org/I4210117453"],"apc_list":null,"apc_paid":null,"fwci":10.3769,"has_fulltext":false,"cited_by_count":246,"citation_normalized_percentile":{"value":0.9877568,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"308","issue":"5","first_page":"485","last_page":"492"},"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/T10552","display_name":"Colorectal Cancer Screening and Detection","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/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"}}],"keywords":[{"id":"https://openalex.org/keywords/apc-mutation","display_name":"APC mutation","score":0.7689999938011169},{"id":"https://openalex.org/keywords/mutyh-mutations","display_name":"MUTYH mutations","score":0.9819999933242798},{"id":"https://openalex.org/keywords/hereditary-colorectal-polyposis","display_name":"hereditary colorectal polyposis","score":0.8040000200271606},{"id":"https://openalex.org/keywords/mutation-prevalence","display_name":"mutation prevalence","score":0.6449999809265137},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.7480000257492065},{"id":"https://openalex.org/keywords/polyp-burden","display_name":"polyp burden","score":0.7680000066757202},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.39899998903274536},{"id":"https://openalex.org/keywords/lynch-syndrome","display_name":"Lynch syndrome","score":0.7990000247955322}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9739507436752319},{"id":"https://openalex.org/C141496672","wikidata":"https://www.wikidata.org/wiki/Q14883437","display_name":"MUTYH","level":5,"score":0.8777406215667725},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6986174583435059},{"id":"https://openalex.org/C526805850","wikidata":"https://www.wikidata.org/wiki/Q188874","display_name":"Colorectal cancer","level":3,"score":0.5342373847961426},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.448057621717453},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4337750971317291},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.4139147996902466},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.4048621952533722},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.36466464400291443},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.20969703793525696},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.19173574447631836},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.15899336338043213},{"id":"https://openalex.org/C199539241","wikidata":"https://www.wikidata.org/wiki/Q7748","display_name":"Law","level":1,"score":0.0},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0},{"id":"https://openalex.org/C17744445","wikidata":"https://www.wikidata.org/wiki/Q36442","display_name":"Political science","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000236","descriptor_name":"Adenoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000236","descriptor_name":"Adenoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000236","descriptor_name":"Adenoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000236","descriptor_name":"Adenoma","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000236","descriptor_name":"Adenoma","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000236","descriptor_name":"Adenoma","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003430","descriptor_name":"Cross-Sectional Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003430","descriptor_name":"Cross-Sectional Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003430","descriptor_name":"Cross-Sectional Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D006801","descriptor_name":"Humans","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D008875","descriptor_name":"Middle Aged","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":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011125","descriptor_name":"Adenomatous Polyposis Coli","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011125","descriptor_name":"Adenomatous Polyposis Coli","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011125","descriptor_name":"Adenomatous Polyposis Coli","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011125","descriptor_name":"Adenomatous Polyposis Coli","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D011125","descriptor_name":"Adenomatous Polyposis Coli","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D011125","descriptor_name":"Adenomatous Polyposis Coli","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D015179","descriptor_name":"Colorectal Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015179","descriptor_name":"Colorectal Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015179","descriptor_name":"Colorectal Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015179","descriptor_name":"Colorectal Neoplasms","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D015179","descriptor_name":"Colorectal Neoplasms","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D015179","descriptor_name":"Colorectal Neoplasms","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D025601","descriptor_name":"Adenomatous Polyposis Coli Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D025601","descriptor_name":"Adenomatous Polyposis Coli Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D025601","descriptor_name":"Adenomatous Polyposis Coli Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D045647","descriptor_name":"DNA Glycosylases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D045647","descriptor_name":"DNA Glycosylases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D045647","descriptor_name":"DNA Glycosylases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":8,"locations":[{"id":"doi:10.1001/jama.2012.8780","doi":"https://doi.org/10.1001/jama.2012.8780","is_oa":false,"landing_page_url":"https://doi.org/10.1001/jama.2012.8780","pdf_url":null,"source":{"id":"https://openalex.org/S172573765","display_name":"JAMA","issn_l":"0002-9955","issn":["0002-9955","0098-7484","1538-3598","2376-8118"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JAMA","raw_type":"journal-article"},{"id":"pmid:22851115","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22851115","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":"JAMA","raw_type":"Journal Article"},{"id":"pmh:oai:pure.eur.nl:openaire_cris_publications/ec583eb7-f7d7-4c65-94ac-bdf82469795e","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/ec583eb7-f7d7-4c65-94ac-bdf82469795e","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Grover, S, Kastrinos, F, Steyerberg, E, Cook, EF, Dewanwala, A, Burbidge, LA, Wenstrup, RJ & Syngal, S 2012, 'Prevalence and Phenotypes of APC and MUTYH Mutations in Patients With Multiple Colorectal Adenomas', JAMA - Journal of the American Medical Association, vol. 308, no. 5, pp. 485-492. https://doi.org/10.1001/jama.2012.8780","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:europepmc.org:2761339","doi":null,"is_oa":false,"landing_page_url":"http://europepmc.org/articles/PMC3770297","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3770297","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3770297","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"JAMA","raw_type":"Text"},{"id":"pmh:eur:oai:pure.eur.nl:publications/ec583eb7-f7d7-4c65-94ac-bdf82469795e","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/ec583eb7-f7d7-4c65-94ac-bdf82469795e","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"JAMA - Journal of the American Medical Association, 308(5), 485 - 492. American Medical Association","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:eur:oai:repub.eur.nl:62664","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1765/62664","pdf_url":null,"source":{"id":"https://openalex.org/S4377196287","display_name":"RePub (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"J A M A: The Journal of the American Medical Association, 308(5), 485 - 492","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:repub.eur.nl:62664","doi":null,"is_oa":true,"landing_page_url":"http://repub.eur.nl/pub/62664","pdf_url":null,"source":{"id":"https://openalex.org/S4377196287","display_name":"RePub (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"J A M A: The Journal of the American Medical Association vol. 308 no. 5, pp. 485-492","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:3770297","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3770297","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"JAMA","raw_type":"Text"},"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.6899999976158142,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G3311808843","display_name":"Program in Cancer Research Outcomes Training (PCORT)","funder_award_id":"R25CA092203","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G5155544105","display_name":null,"funder_award_id":"K24 CA113433","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G6413869756","display_name":"Assessment of Inherited Colon Cancer Prediction Models in Diverse Populations","funder_award_id":"K07CA151769","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G791111766","display_name":null,"funder_award_id":"K24 113433","funder_id":"https://openalex.org/F4320332505","funder_display_name":"U.S. Public Health Service"}],"funders":[{"id":"https://openalex.org/F4320332505","display_name":"U.S. Public Health Service","ror":"https://ror.org/05xf94514"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":41,"referenced_works":["https://openalex.org/W31254998","https://openalex.org/W653741650","https://openalex.org/W1761622218","https://openalex.org/W1972537482","https://openalex.org/W1975993620","https://openalex.org/W1977127546","https://openalex.org/W1978318533","https://openalex.org/W1979618971","https://openalex.org/W1984676028","https://openalex.org/W2017312736","https://openalex.org/W2018227121","https://openalex.org/W2026895762","https://openalex.org/W2029822461","https://openalex.org/W2032366833","https://openalex.org/W2035343328","https://openalex.org/W2039608769","https://openalex.org/W2042181472","https://openalex.org/W2043692125","https://openalex.org/W2046016850","https://openalex.org/W2054241325","https://openalex.org/W2059112153","https://openalex.org/W2059813946","https://openalex.org/W2083197298","https://openalex.org/W2085403697","https://openalex.org/W2100880689","https://openalex.org/W2120805919","https://openalex.org/W2126712451","https://openalex.org/W2127841934","https://openalex.org/W2129316932","https://openalex.org/W2132281009","https://openalex.org/W2133520089","https://openalex.org/W2135942704","https://openalex.org/W2135982041","https://openalex.org/W2143590679","https://openalex.org/W2152596137","https://openalex.org/W2153372958","https://openalex.org/W2159601563","https://openalex.org/W2162362353","https://openalex.org/W2165011473","https://openalex.org/W2887383290","https://openalex.org/W3148982371"],"related_works":["https://openalex.org/W1562082195","https://openalex.org/W2167283539","https://openalex.org/W2000211554","https://openalex.org/W2036928759","https://openalex.org/W2370962239","https://openalex.org/W1980227984","https://openalex.org/W2082178506","https://openalex.org/W3215811666","https://openalex.org/W2039670105","https://openalex.org/W3166645581"],"abstract_inverted_index":{"CONTEXT:":[0],"Patients":[1],"with":[2,29,95,117,148,155,188,210,232,255,265,275,293,303],"multiple":[3,30,276],"colorectal":[4,31,277],"adenomas":[5,32,141],"may":[6],"carry":[7],"germline":[8],"mutations":[9,26,86,133,168,299,312],"in":[10,27,134,144,269,301,315],"the":[11,19,41,73,81,113],"APC":[12,23,47,74,103,135,164,280,298,309],"or":[13,190],"MUTYH":[14,25,49,85,100,105,137,167,282,311],"genes.":[15,138],"OBJECTIVES:":[16],"To":[17],"determine":[18],"prevalence":[20,42,107,161,284,307],"of":[21,46,72,131,162,171,179,194,202,216,224,239,247,308],"pathogenic":[22,119,132,163,267,279],"and":[24,38,43,48,68,76,88,92,104,136,153,165,177,200,222,237,245,281,310],"patients":[28,274,302],"who":[33,62],"had":[34,63],"undergone":[35,64],"genetic":[36],"testing":[37],"to":[39,212,234,257],"compare":[40],"clinical":[44,114],"characteristics":[45,115],"mutation":[50,97,106,120,268,283],"carriers.":[51],"DESIGN,":[52],"SETTING,":[53],"AND":[54],"PARTICIPANTS:":[55],"Cross-sectional":[56],"study":[57],"conducted":[58],"among":[59,186,208,230,253],"8676":[60],"individuals":[61,187],"full":[65,99],"gene":[66,75,101],"sequencing":[67],"large":[69],"rearrangement":[70],"analysis":[71,79],"targeted":[77],"sequence":[78],"for":[80],"2":[82,178],"most":[83],"common":[84],"(Y179C":[87],"G396D)":[89],"between":[90],"2004":[91],"2011.":[93],"Individuals":[94],"either":[96],"underwent":[98],"sequencing.":[102],"was":[108,169,262,313],"evaluated":[109,122],"by":[110,287],"polyp":[111],"burden;":[112],"associated":[116,264],"a":[118,266,294],"were":[121,142],"using":[123],"logistic":[124],"regression":[125],"analyses.":[126,271],"MAIN":[127],"OUTCOME":[128],"MEASURE:":[129],"Prevalence":[130],"RESULTS:":[139],"Colorectal":[140],"reported":[143],"7225":[145],"individuals;":[146],"1457":[147],"classic":[149,295,304],"polyposis":[150,157,296],"(\u2265100":[151],"adenomas)":[152],"3253":[154,217,225],"attenuated":[156,316],"(20-99":[158],"adenomas).":[159],"The":[160],"biallelic":[166],"95":[170],"119":[172,180],"(80%":[173],"[95%":[174,182,197,205,219,227,242,250],"CI,":[175,183,198,206,220,228,243,251],"71%-87%])":[176],"(2%":[181],"0.2%-6%]),":[184],"respectively,":[185],"1000":[189],"more":[191],"adenomas,":[192,214,236,278],"756":[193],"1338":[195,203],"(56%":[196],"54%-59%])":[199],"94":[201],"(7%":[204,226],"6%-8%])":[207,229],"those":[209,231,254,292],"100":[211],"999":[213],"326":[215],"(10%":[218],"9%-11%])":[221],"233":[223],"20":[233],"99":[235],"50":[238],"970":[240,248],"(5%":[241],"4%-7%])":[244],"37":[246],"(4%":[249],"3%-5%])":[252],"10":[256],"19":[258],"adenomas.":[259],"Adenoma":[260],"count":[261],"strongly":[263],"multivariable":[270],"CONCLUSIONS:":[272],"Among":[273],"varied":[285],"considerably":[286],"adenoma":[288],"count,":[289],"including":[290],"within":[291],"phenotype.":[297],"predominated":[300],"polyposis,":[305],"whereas":[306],"similar":[314],"polyposis.":[317],"These":[318],"findings":[319],"require":[320],"external":[321],"validation.":[322]},"counts_by_year":[{"year":2026,"cited_by_count":11},{"year":2025,"cited_by_count":22},{"year":2024,"cited_by_count":18},{"year":2023,"cited_by_count":20},{"year":2022,"cited_by_count":22},{"year":2021,"cited_by_count":19},{"year":2020,"cited_by_count":21},{"year":2019,"cited_by_count":20},{"year":2018,"cited_by_count":13},{"year":2017,"cited_by_count":16},{"year":2016,"cited_by_count":14},{"year":2015,"cited_by_count":18},{"year":2014,"cited_by_count":22},{"year":2013,"cited_by_count":9},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-15T10:00:46.086208","created_date":"2025-10-10T00:00:00"}
