{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T15:24:22Z","timestamp":1791300262077,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,1,13]],"date-time":"2017-01-13T00:00:00Z","timestamp":1484265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Myriad Genetic Laboratories"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2017,5,15]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>As panel testing becomes more common in clinical practice, it is important to understand the prevalence and trends associated with the pathogenic variants (PVs) identified. This is especially true for genetically heterogeneous cancers, such as breast cancer (BC), in which PVs in different genes may be associated with various risks and cancer subtypes. The authors evaluated the outcomes of genetic testing among women who had a personal history of BC.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>A total of 35,409 women with a single diagnosis of BC who underwent clinical genetic testing with a 25\u2010gene panel were included in the current analysis. Women with multiple BCs and men with BC were excluded. The frequency and distribution of PVs were assessed for the overall cohort, among women with triple\u2010negative BC (TNBC) (n\u2009=\u20094797), and by age at diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>PVs were identified in 9.3% of women tested; 51.5% of PVs were identified in genes other than breast cancer 1 (<jats:italic>BRCA1<\/jats:italic>) and <jats:italic>BRCA2<\/jats:italic>, including checkpoint kinase 2 (<jats:italic>CHEK2<\/jats:italic>) (11.7%), ataxia telangiectasia mutated (<jats:italic>ATM<\/jats:italic>; ATM serine\/threonine kinase) (9.7%), and partner and localizer of BRCA2 (<jats:italic>PALB2<\/jats:italic>) (9.3%). The prevalence of PVs in <jats:italic>BRCA1, PALB2<\/jats:italic>, BRCA1\u2010associated RING domain 1 (<jats:italic>BARD1<\/jats:italic>), BRCA1\u2010interacting protein C\u2010terminal helicase 1 (<jats:italic>BRIP1<\/jats:italic>), and RAD51 paralog C (<jats:italic>RAD51C<\/jats:italic>) was statistically higher among women with TNBC. The PV rate was higher among women aged &lt;40 years, lower among women aged &gt;59 years, and relatively constant (8.5%\u20109.0%) among women who were diagnosed between ages 40 and 59 years.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p>These results demonstrate that panel testing increased the number of women identified as carrying a PV in this cohort compared with BRCA testing alone. Furthermore, the proportion of women identified who carried a PV in this cohort did not decrease between ages 40 and 59 years. <jats:bold><jats:italic>Cancer<\/jats:italic> 2017;123:1721\u20131730<\/jats:bold>. \u00a9 <jats:italic>2017 American Cancer Society<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.30498","type":"journal-article","created":{"date-parts":[[2017,1,13]],"date-time":"2017-01-13T16:53:51Z","timestamp":1484326431000},"page":"1721-1730","source":"Crossref","is-referenced-by-count":355,"title":["A study of over 35,000 women with breast cancer tested with a 25\u2010gene panel of hereditary cancer genes"],"prefix":"10.1002","volume":"123","author":[{"given":"Saundra S.","family":"Buys","sequence":"first","affiliation":[{"name":"University of Utah School of Medicine, Department of Internal Medicine and Huntsman Cancer Institute Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John F.","family":"Sandbach","sequence":"additional","affiliation":[{"name":"Texas Oncology Austin Austin Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Gammon","sequence":"additional","affiliation":[{"name":"University of Utah School of Medicine, Department of Internal Medicine and Huntsman Cancer Institute Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gayle","family":"Patel","sequence":"additional","affiliation":[{"name":"Texas Oncology Austin Austin Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Kidd","sequence":"additional","affiliation":[{"name":"Myriad Genetics, Inc Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystal L.","family":"Brown","sequence":"additional","affiliation":[{"name":"Myriad Genetics, Inc Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lavania","family":"Sharma","sequence":"additional","affiliation":[{"name":"Myriad Genetics, Inc Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Saam","sequence":"additional","affiliation":[{"name":"Myriad Genetics, Inc Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johnathan","family":"Lancaster","sequence":"additional","affiliation":[{"name":"Myriad Genetics, Inc Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary B.","family":"Daly","sequence":"additional","affiliation":[{"name":"Fox Chase Cancer Center Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,1,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/375033"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2006.09.1066"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)91578-4"},{"key":"e_1_2_8_5_1","unstructured":"KainuT JuoSH DesperR et al.Learning about the BRCAX study.2012. 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