{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T11:34:51Z","timestamp":1778758491158,"version":"3.51.4"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,6,9]],"date-time":"2016-06-09T00:00:00Z","timestamp":1465430400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2016,6,9]],"date-time":"2016-06-09T00:00:00Z","timestamp":1465430400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"None"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Since the 2013 Supreme Court ruling on <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>BRCA2<\/jats:italic> patenting, hereditary cancer gene panels now include <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic>, making these panels an option for first\u2010tier testing. However, questions remain about the clinical utility and implications of these panels for medical management with inclusion of genes of unknown to moderate penetrance. To better understand how use of these panels affected our practice, we reviewed patients who underwent testing in our clinic from July 1, 2013 through May 23, 2014. Indications for testing included personal and\/or family history of breast and\/or ovarian cancer. A total of 136 patients underwent panel testing via a single commercial laboratory; 12 (8.8 %) patients were positive for a pathogenic or likely pathogenic mutation (four <jats:italic>BRCA2<\/jats:italic> mutations, two <jats:italic>TP53<\/jats:italic> mutations, one <jats:italic>CDH1<\/jats:italic> mutation, two <jats:italic>ATM<\/jats:italic> mutations, and one patient each with a <jats:italic>CHEK2<\/jats:italic>, <jats:italic>NBN<\/jats:italic>, or <jats:italic>PALB2<\/jats:italic> mutation). Of these positive patients, 100 % met the National Comprehensive Cancer Network (NCCN) guidelines for Hereditary Breast and Ovarian Cancer genetic testing (2.2014). Mutations in seven of twelve (58 %) patients led to changes in medical management; three of seven (43 %) had a non\u2010<jats:italic>BRCA1<\/jats:italic> or <jats:italic>BRCA2<\/jats:italic> gene mutation. Our findings suggest that there is clinical utility of panels that include genes of unknown to moderate penetrance.<\/jats:p>","DOI":"10.1007\/s10897-016-9985-2","type":"journal-article","created":{"date-parts":[[2016,6,9]],"date-time":"2016-06-09T00:36:45Z","timestamp":1465432605000},"page":"105-112","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["The Clinical Utility of Next Generation Sequencing Results in a Community\u2010Based Hereditary Cancer Risk Program"],"prefix":"10.1002","volume":"26","author":[{"given":"A. E.","family":"Bunnell","sequence":"first","affiliation":[{"name":"Baylor Charles A. Sammons Cancer Center Baylor University Medical Center 3410 Worth St Dallas TX 75248 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. A.","family":"Garby","sequence":"additional","affiliation":[{"name":"Baylor Charles A. Sammons Cancer Center Baylor University Medical Center 3410 Worth St Dallas TX 75248 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. J.","family":"Pearson","sequence":"additional","affiliation":[{"name":"Baylor Charles A. Sammons Cancer Center Baylor University Medical Center 3410 Worth St Dallas TX 75248 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. A.","family":"Walker","sequence":"additional","affiliation":[{"name":"Baylor Charles A. Sammons Cancer Center Baylor University Medical Center 3410 Worth St Dallas TX 75248 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. E.","family":"Panos","sequence":"additional","affiliation":[{"name":"Ambry Genetic Laboratories Aliso Viejo CA 92656 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanne L.","family":"Blum","sequence":"additional","affiliation":[{"name":"Baylor Charles A. Sammons Cancer Center Baylor University Medical Center 3410 Worth St Dallas TX 75248 USA"},{"name":"Texas Oncology, Baylor Charles A. Sammons Cancer Center 3410 Worth St Dallas TX 75248 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,6,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/91.15.1310"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2006.09.1066"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1251827"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.6004\/jnccn.2014.0127"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00008390-200308000-00005"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-014-9796-2"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2012.46.9403"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsr1501341"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1294-399"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1415979111"},{"key":"e_1_2_9_12_1","unstructured":"Genetic\/Familial High\u2010Risk Assessment: Breast and Ovarian Version 2.2014. 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(2015).Pathogenic and likely pathogenic variant prevalence among the first 10 000 patients referred for next\u2010generation cancer panel testing.Genetics in Medicz'ne. doi:10.1038\/gim.2015.166.","DOI":"10.1038\/gim.2015.166"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2407-14-478"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2407-11-48"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.295.12.1379"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1007983107"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1115052108"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/378789a0"}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10897-016-9985-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10897-016-9985-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10897-016-9985-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10897-016-9985-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T13:41:13Z","timestamp":1694785273000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10897-016-9985-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,9]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["10.1007\/s10897-016-9985-2"],"URL":"https:\/\/doi.org\/10.1007\/s10897-016-9985-2","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,9]]}}}