{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T03:29:50Z","timestamp":1790738990672,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T00:00:00Z","timestamp":1671580800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Medicine"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Knowledge of pathogenic variants in cancer\u2010predisposing genes is important when making breast cancer treatment decisions, but genetic testing is not universal and criteria must be met to qualify for genetic testing. The objective of this study was to evaluate the pathogenic variant yield for nine cancer predisposition genes by testing criteria, singly and in combination.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Women diagnosed with breast cancer between June 2013 and May 2018 were recruited from four centers in Toronto, Canada. Participants completed a demographics and family history questionnaire and clinical characteristics were collected from medical charts. Genetic testing was done for <jats:italic>BRCA1<\/jats:italic>, <jats:italic>BRCA2<\/jats:italic>, <jats:italic>PALB2<\/jats:italic>, <jats:italic>ATM<\/jats:italic>, <jats:italic>CHEK2<\/jats:italic>, <jats:italic>BRIP1<\/jats:italic>, <jats:italic>RAD51D<\/jats:italic>, <jats:italic>RECQL<\/jats:italic>, and <jats:italic>TP53<\/jats:italic>. Pathogenic variant frequencies were calculated according to five criteria (age\u2009\u2264\u200950, triple\u2010negative breast cancer, family history, bilateral breast cancer, or Jewish ethnicity).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the 1006 women studied, 100 women (9.9%) were found to have a pathogenic variant in one of the nine genes tested. The highest prevalence of pathogenic variants was found in women with triple\u2010negative breast cancer (23%). Of the 100 pathogenic variants detected, 78 were detected in women diagnosed at age 50 or less. A total of 96% of the mutations were identified with three criteria (age of diagnosis, family history, and triple\u2010negative status).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Genetic testing criteria for women with breast cancer should include women with triple\u2010negative breast cancer, regardless of age. All women aged 50\u2009years or below at time of breast cancer diagnosis should be offered genetic testing.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cam4.5515","type":"journal-article","created":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T05:30:22Z","timestamp":1671687022000},"page":"7580-7587","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1803-2169","authenticated-orcid":false,"given":"Kelly A.","family":"Metcalfe","sequence":"first","affiliation":[{"name":"Lawrence S. Bloomberg Faculty of Nursing, University of Toronto  Toronto Canada"},{"name":"Women's College Research Institute  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5798-0626","authenticated-orcid":false,"given":"Steven A.","family":"Narod","sequence":"additional","affiliation":[{"name":"Women's College Research Institute  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Eisen","sequence":"additional","affiliation":[{"name":"Sunnybrook Health Sciences Centre  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aletta","family":"Poll","sequence":"additional","affiliation":[{"name":"Women's College Research Institute  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neda","family":"Zamani","sequence":"additional","affiliation":[{"name":"Women's College Research Institute  Toronto Canada"},{"name":"Institute of Medical Science, Faculty of Medicine, University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"McCready","sequence":"additional","affiliation":[{"name":"Princess Margaret Cancer Centre, University Health Network  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tulin D.","family":"Cil","sequence":"additional","affiliation":[{"name":"Princess Margaret Cancer Centre, University Health Network  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances C.","family":"Wright","sequence":"additional","affiliation":[{"name":"Sunnybrook Health Sciences Centre  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan","family":"Lerner\u2010Ellis","sequence":"additional","affiliation":[{"name":"Mount Sinai Hospital  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanna","family":"McCuaig","sequence":"additional","affiliation":[{"name":"Institute of Medical Science, Faculty of Medicine, University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Graham","sequence":"additional","affiliation":[{"name":"Sunnybrook Health Sciences Centre  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Sun","sequence":"additional","affiliation":[{"name":"Women's College Research Institute  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad R.","family":"Akbari","sequence":"additional","affiliation":[{"name":"Women's College Research Institute  Toronto Canada"},{"name":"Mount Sinai Hospital  Toronto Canada"},{"name":"Dalla Lana School of Public Health, University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2015.65.0747"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.g226"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2015.0658"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2013.53.2820"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2105215"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1245\/s10434-019-07549-8"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1245\/s10434-017-5963-7"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.18.01631"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1245\/s10434-020-09160-8"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2017.11137"},{"key":"e_1_2_9_12_1","unstructured":"National Comprehensive Cancer N. 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