{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T18:02:39Z","timestamp":1782842559080,"version":"3.54.5"},"reference-count":23,"publisher":"JMIR Publications Inc.","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JMIR Cancer"],"abstract":"\n Background<\/jats:title>\n Genetic testing for germline cancer susceptibility genes is widely available. The Ask2Me.org (All Syndromes Known to Man Evaluator) tool is a clinical decision support tool that provides evidence-based risk predictions for individuals with pathogenic variants in cancer susceptibility genes.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n The aim of this study was to understand the search behavior of the Ask2Me.org tool users, identify the patterns of queries entered, and discuss how to further improve the tool.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n We analyzed the Ask2Me.org user-generated queries collected between December 12, 2018, and October 8, 2019. The gene frequencies of the user-generated queries were compared with previously published panel testing data to assess the correspondence between usage and prevalence of pathogenic variants. The frequencies of prior cancer in the user-generated queries were compared with the most recent US population\u2013based cancer incidence.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n A total of 10,085 search queries were evaluated. The average age submitted in the queries was 48.8 (SD 16.5) years, and 84.1% (8478\/10,085) of the submitted queries were for females. BRCA2 (1671\/10,085, 16.6%), BRCA1 (1627\/10,085, 16.1%), CHEK2 (994\/10,085, 9.9%), ATM (662\/10,085, 6.6%), and APC (492\/10,085, 4.9%) were the top 5 genes searched by users. There was a strong linear correlation between genes queried by users and the frequency of pathogenic variants reported in published panel testing data (r=0.95, r2=0.90, P<.001). Over half of the queries (5343\/10,085, 53.0%) included a prior personal history of cancer. The frequencies of prior cancers in the queries on females were strongly correlated with US cancer incidences (r=0.97, r2=0.95, P<.001), while the same correlation was weaker among the queries on males (r=0.69, r2=0.47, P=.02).<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n The patients entered in the Ask2Me.org tool are a representative cohort of patients with pathogenic variants in cancer susceptibility genes in the United States. While a majority of the queries were on breast cancer susceptibility genes, users also queried susceptibility genes with lower prevalence, which may represent a transformation from single gene testing to multigene panel testing. Owing to these changing tides, more efforts are needed to improve evidence-based clinical decision support tools to better aid clinicians and their practice.<\/jats:p>\n <\/jats:sec>","DOI":"10.2196\/28527","type":"journal-article","created":{"date-parts":[[2021,7,13]],"date-time":"2021-07-13T09:00:41Z","timestamp":1626166841000},"page":"e28527","source":"Crossref","is-referenced-by-count":6,"title":["Search Behavior Regarding Cancer Susceptibility Genes Using a Clinical Decision Support Tool for Gene-Specific Penetrance: Content Analysis"],"prefix":"10.2196","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4769-3129","authenticated-orcid":false,"given":"Kanhua","family":"Yin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7923-1404","authenticated-orcid":false,"given":"Jingan","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2650-2610","authenticated-orcid":false,"given":"Preeti","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2372-0049","authenticated-orcid":false,"given":"Jin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5177-8598","authenticated-orcid":false,"given":"Danielle","family":"Braun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4084-6484","authenticated-orcid":false,"given":"Kevin S","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1010","published-online":{"date-parts":[[2021,7,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2017.74.7899"},{"key":"ref2","unstructured":"Genetic\/familial high-risk assessment: Breast, ovarian, and pancreatic (version 1, 2021)National Comprehensive Cancer Network2020-11-16https:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/genetics_bop.pdf"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.32572"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2017.73.6314"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-018-0238-4"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1200\/CCI.19.00043"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31607"},{"key":"ref8","unstructured":"The Ask2Me.Org2020-11-16https:\/\/ask2me.org\/"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1245\/s10434-019-07549-8"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0633-8"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21590"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-017-4247-z"},{"key":"ref13","unstructured":"Genetic\/familial high-risk assessment: Colorectal (version 1, 2020)National Comprehensive Cancer Network2020-11-16https:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/genetics_colon.pdf"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24053"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2018.13152"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.12483"},{"key":"ref17","unstructured":"Prostate cancer: statisticsCancer.Net2020-11-16https:\/\/www.cancer.net\/cancer-types\/prostate-cancer\/statistics"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1200\/CCI.19.00042"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1111\/tbj.13718"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2021.663419"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007\/s12032-021-01495-w"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1245\/s10434-021-09783-5"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1245\/s10434-021-09745-x"}],"container-title":["JMIR Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/cancer.jmir.org\/2021\/3\/e28527","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T17:41:43Z","timestamp":1782841303000},"score":1,"resource":{"primary":{"URL":"https:\/\/cancer.jmir.org\/2021\/3\/e28527"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,13]]},"references-count":23,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.2196\/28527","relation":{"has-preprint":[{"id-type":"doi","id":"10.2196\/preprints.28527","asserted-by":"object"}]},"ISSN":["2369-1999"],"issn-type":[{"value":"2369-1999","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,13]]}}}