{"id":"https://openalex.org/W4395082995","doi":"https://doi.org/10.1002/gepi.22561","title":"Meta\u2010analysis of breast cancer risk for individuals with PALB2 pathogenic variants","display_name":"Meta\u2010analysis of breast cancer risk for individuals with PALB2 pathogenic variants","publication_year":2024,"publication_date":"2024-04-23","ids":{"openalex":"https://openalex.org/W4395082995","doi":"https://doi.org/10.1002/gepi.22561","pmid":"https://pubmed.ncbi.nlm.nih.gov/37398422","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/10312825"},"language":"en","primary_location":{"id":"doi:10.1002/gepi.22561","doi":"https://doi.org/10.1002/gepi.22561","is_oa":true,"landing_page_url":"https://doi.org/10.1002/gepi.22561","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/gepi.22561","source":{"id":"https://openalex.org/S136352176","display_name":"Genetic Epidemiology","issn_l":"0741-0395","issn":["0741-0395","1098-2272"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetic Epidemiology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/gepi.22561","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5067532986","display_name":"Thanthirige Lakshika M. Ruberu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I162577319","display_name":"The University of Texas at Dallas","ror":"https://ror.org/049emcs32","country_code":"US","type":"education","lineage":["https://openalex.org/I162577319"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thanthirige L. M. Ruberu","raw_affiliation_strings":["Department of Mathematical Sciences University of Texas at Dallas Richardson USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Mathematical Sciences University of Texas at Dallas Richardson USA","institution_ids":["https://openalex.org/I162577319"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048337523","display_name":"Danielle Braun","orcid":"https://orcid.org/0000-0002-5177-8598","observed_orcids":["https://orcid.org/0000-0002-5177-8598"]},"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"]},{"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":"Danielle Braun","raw_affiliation_strings":["Department of Biostatistics Harvard T.H. Chan School of Public Health Boston USA","Department of Data Science Dana Farber Cancer Institute Boston USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biostatistics Harvard T.H. Chan School of Public Health Boston USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Data Science Dana Farber Cancer Institute Boston USA","institution_ids":["https://openalex.org/I4210117453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050977500","display_name":"Giovanni Parmigiani","orcid":"https://orcid.org/0000-0002-8783-5961","observed_orcids":["https://orcid.org/0000-0002-8783-5961"]},"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"]},{"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":"Giovanni Parmigiani","raw_affiliation_strings":["Department of Biostatistics Harvard T.H. Chan School of Public Health Boston USA","Department of Data Science Dana Farber Cancer Institute Boston USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biostatistics Harvard T.H. Chan School of Public Health Boston USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Data Science Dana Farber Cancer Institute Boston USA","institution_ids":["https://openalex.org/I4210117453"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5089442574","display_name":"Swati Biswas","orcid":"https://orcid.org/0000-0001-7758-4460","observed_orcids":["https://orcid.org/0000-0001-7758-4460"]},"institutions":[{"id":"https://openalex.org/I162577319","display_name":"The University of Texas at Dallas","ror":"https://ror.org/049emcs32","country_code":"US","type":"education","lineage":["https://openalex.org/I162577319"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Swati Biswas","raw_affiliation_strings":["Department of Mathematical Sciences University of Texas at Dallas Richardson USA"],"raw_orcid":"https://orcid.org/0000-0001-7758-4460","affiliations":[{"raw_affiliation_string":"Department of Mathematical Sciences University of Texas at Dallas Richardson USA","institution_ids":["https://openalex.org/I162577319"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5089442574"],"corresponding_institution_ids":["https://openalex.org/I162577319"],"apc_list":{"value":3950,"currency":"USD","value_usd":3950},"apc_paid":null,"fwci":3.4501,"has_fulltext":true,"cited_by_count":13,"citation_normalized_percentile":{"value":0.93398654,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":96,"max":99},"biblio":{"volume":"48","issue":"8","first_page":"448","last_page":"454"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},"topics":[{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T14078","display_name":"Multiple and Secondary Primary Cancers","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2713","display_name":"Epidemiology"},"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/palb2","display_name":"PALB2","score":0.8970000147819519},{"id":"https://openalex.org/keywords/breast-cancer-risk","display_name":"breast cancer risk","score":0.843999981880188},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.9760000109672546},{"id":"https://openalex.org/keywords/hereditary-cancer-susceptibility","display_name":"hereditary cancer predisposition","score":0.7400000095367432},{"id":"https://openalex.org/keywords/risk-heterogeneity","display_name":"risk heterogeneity","score":0.5090000033378601},{"id":"https://openalex.org/keywords/cancer-risk-counseling","display_name":"cancer risk counseling","score":0.5709999799728394},{"id":"https://openalex.org/keywords/mutation-carriers","display_name":"mutation carriers","score":0.6179999709129333},{"id":"https://openalex.org/keywords/standardized-incidence-ratio","display_name":"standardized incidence ratio","score":0.5889999866485596}],"concepts":[{"id":"https://openalex.org/C2778144015","wikidata":"https://www.wikidata.org/wiki/Q18046302","display_name":"PALB2","level":5,"score":0.9241360425949097},{"id":"https://openalex.org/C156957248","wikidata":"https://www.wikidata.org/wiki/Q1862216","display_name":"Odds ratio","level":2,"score":0.6696656942367554},{"id":"https://openalex.org/C95190672","wikidata":"https://www.wikidata.org/wiki/Q815382","display_name":"Meta-analysis","level":2,"score":0.6183605194091797},{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.6078205108642578},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.44543272256851196},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.4442925751209259},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.4357577860355377},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4203490912914276},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.39622971415519714},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3942353427410126},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.35417693853378296},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3386771082878113},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.28052783012390137},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.15412119030952454}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.1002/gepi.22561","doi":"https://doi.org/10.1002/gepi.22561","is_oa":true,"landing_page_url":"https://doi.org/10.1002/gepi.22561","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/gepi.22561","source":{"id":"https://openalex.org/S136352176","display_name":"Genetic Epidemiology","issn_l":"0741-0395","issn":["0741-0395","1098-2272"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetic Epidemiology","raw_type":"journal-article"},{"id":"doi:10.1101/2023.05.31.23290791","doi":"https://doi.org/10.1101/2023.05.31.23290791","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1101/2023.05.31.23290791","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2024/03/04/2023.05.31.23290791.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},{"id":"pmid:37398422","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37398422","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":"medRxiv : the preprint server for health sciences","raw_type":"Preprint"},{"id":"pmid:38654400","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38654400","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":"Genetic epidemiology","raw_type":"Meta-Analysis"},{"id":"pmh:oai:pubmedcentral.nih.gov:10312825","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10312825","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10312825/pdf/nihpp-2023.05.31.23290791v2.pdf","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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"medRxiv","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1002/gepi.22561","doi":"https://doi.org/10.1002/gepi.22561","is_oa":true,"landing_page_url":"https://doi.org/10.1002/gepi.22561","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/gepi.22561","source":{"id":"https://openalex.org/S136352176","display_name":"Genetic Epidemiology","issn_l":"0741-0395","issn":["0741-0395","1098-2272"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetic Epidemiology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","score":0.8199999928474426,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Systematic Review","id":"https://openalex.org/study-designs/systematic-review"},{"display_name":"Meta-Analysis","id":"https://openalex.org/study-designs/meta-analysis"}],"awards":[{"id":"https://openalex.org/G776391105","display_name":"A Bayesian Meta-Analysis Approach for Estimation of Penetrance and its Application to PALB2 gene for Breast Cancer Risk","funder_award_id":"R03CA242562","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4395082995.pdf","grobid_xml":"https://content.openalex.org/works/W4395082995.grobid-xml"},"referenced_works_count":33,"referenced_works":["https://openalex.org/W1588589870","https://openalex.org/W1903298609","https://openalex.org/W1968565417","https://openalex.org/W1970139307","https://openalex.org/W1983277248","https://openalex.org/W2002150942","https://openalex.org/W2064696798","https://openalex.org/W2070364844","https://openalex.org/W2076476944","https://openalex.org/W2114026834","https://openalex.org/W2129298960","https://openalex.org/W2140579115","https://openalex.org/W2140872369","https://openalex.org/W2194014097","https://openalex.org/W2325347078","https://openalex.org/W2343071987","https://openalex.org/W2527734020","https://openalex.org/W2582743722","https://openalex.org/W2615756719","https://openalex.org/W2676309654","https://openalex.org/W2733265905","https://openalex.org/W2770026599","https://openalex.org/W2888483008","https://openalex.org/W2893632651","https://openalex.org/W2968550030","https://openalex.org/W3100475287","https://openalex.org/W3195952834","https://openalex.org/W4220760054","https://openalex.org/W4223562629","https://openalex.org/W4282930103","https://openalex.org/W4362656041","https://openalex.org/W4399201868","https://openalex.org/W6759802660"],"related_works":["https://openalex.org/W2135674445","https://openalex.org/W6906751359","https://openalex.org/W4406813771","https://openalex.org/W7129364683","https://openalex.org/W2403696915","https://openalex.org/W7149437076","https://openalex.org/W4200489488","https://openalex.org/W2915936951","https://openalex.org/W7204230883","https://openalex.org/W2166241451"],"abstract_inverted_index":{"Background:":[0],"Pathogenic":[1,207],"variants":[2,71,118,227],"in":[3,25,72,119,124,133,209,228],"cancer":[4,44,54,66],"susceptibility":[5,55],"genes":[6],"can":[7,153,220],"now":[8],"be":[9,39],"tested":[10],"efficiently":[11],"and":[12,87,91,138,155,193,200],"economically":[13],"with":[14,69,116],"the":[15,48,76,129],"wide":[16],"availability":[17],"of":[18,29,75,78,94,100,102,105,114,131,135,178,183],"multi-gene":[19],"panel":[20],"testing.":[21],"This":[22],"has":[23],"resulted":[24],"an":[26],"unprecedented":[27],"rate":[28],"identifying":[30],"individuals":[31],"carrying":[32,225],"pathogenic":[33,70,117,179,226],"variants.":[34],"These":[35],"carriers":[36,177],"need":[37],"to":[38,110,166,215],"counselled":[40],"about":[41],"their":[42],"future":[43],"risk":[45,62,96,107,139,175,218],"conferred":[46],"by":[47,202],"specific":[49,81],"gene":[50,56],"mutation.":[51],"An":[52],"important":[53],"is":[57,108,128],"PALB2.":[58,73,120,229],"Several":[59],"studies":[60,132,172],"reported":[61],"estimates":[63,104,127,168,219],"for":[64,176],"breast":[65],"(BC)":[67],"associated":[68],"Because":[74],"variety":[77],"modalities":[79],"(age":[80],"risk,":[82,86,192],"odds":[83,196],"ratio,":[84],"relative":[85,191],"standardized":[88],"incidence":[89],"ratio)":[90],"effect":[92],"sizes":[93],"these":[95,103,126],"estimates,":[97],"a":[98,144],"meta-analysis":[99,150],"all":[101],"BC":[106,174],"necessary":[109],"provide":[111],"accurate":[112],"counseling":[113],"patients":[115,224],"The":[121],"challenge,":[122],"though,":[123],"combining":[125],"heterogeneity":[130],"terms":[134],"study":[136],"design":[137],"measure.":[140],"Methods:":[141],"We":[142,162],"utilized":[143],"recently":[145],"proposed":[146],"novel":[147],"Bayesian":[148],"random-effects":[149],"method":[151,165],"that":[152],"synthesize":[154],"combine":[156,167],"information":[157],"from":[158,169],"such":[159],"heterogeneous":[160],"studies.":[161],"applied":[163],"this":[164],"twelve":[170],"different":[171],"on":[173],"PALB2":[180,210],"mutations,":[181],"out":[182],"which":[184],"two":[185],"report":[186,195],"age-specific":[187],"penetrance,":[188],"one":[189],"reports":[190],"nine":[194],"ratios.":[197],"Results:":[198],"22.59%)":[199],"48.47%":[201],"age":[203],"80":[204],"(36.05%-61.74%).":[205],"Conclusion:":[206],"mutations":[208],"makes":[211],"women":[212],"more":[213],"susceptible":[214],"BC.":[216],"Our":[217],"help":[221],"clinically":[222],"manage":[223]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":5}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2024-04-25T00:00:00"}