{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T22:27:55Z","timestamp":1789165675105,"version":"build-2803163510"},"reference-count":37,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,11,27]],"date-time":"2018-11-27T00:00:00Z","timestamp":1543276800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["acsjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Genetic assessment in Ashkenazi Jewish (AJ) patients often is limited to\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      founder mutation testing. With access to time\u2010efficient and cost\u2010efficient multigene panel testing, some advocate expanding genetic testing in this population. However, to the best of the authors\u2019 knowledge, rates of nonfounder\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      mutations and mutations in cancer\u2010associated genes other than\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      among AJ are not known. In the current study, the authors sought to assess the prevalence of mutations other than\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      founder mutations among AJ patients undergoing genetic assessment.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      The authors reviewed the medical records for all AJ patients who underwent genetic assessment at a single institution between June 2013 and December 2016. Mutations were categorized as 1)\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      AJ founder mutations (\n                      <jats:italic>BRCA1<\/jats:italic>\n                      185delAG,\n                      <jats:italic>BRCA1<\/jats:italic>\n                      5382insC, or\n                      <jats:italic>BRCA2<\/jats:italic>\n                      6174delT); 2) nonfounder\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      mutations; or 3) mutations in non\u2010\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      cancer\u2010associated genes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 732 AJ patients underwent genetic assessment. Of these, 371 patients (51%) had a personal history of breast or ovarian cancer, 540 patients (73.8%) had a family history of breast cancer, and 132 patients (18%) had a family history of ovarian cancer. In the study population, 101 patients (13.8%) were found to have a pathogenic mutation, 78 patients (10.7%) had a\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      founder mutation, 3 patients (0.4%) had a nonfounder\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      mutation, and 20 patients (2.7%) had a mutation in a non\u2010\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      cancer\u2010associated gene. Non\u2010\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      cancer\u2010associated genes harboring mutations included\n                      <jats:italic>RAD51D<\/jats:italic>\n                      ,\n                      <jats:italic>TP53<\/jats:italic>\n                      , mutS homolog 6 (\n                      <jats:italic>MSH6<\/jats:italic>\n                      ), checkpoint kinase 2 (CHEK2), adenomatous polyposis coli (\n                      <jats:italic>APC<\/jats:italic>\n                      ), and Fanconi anemia group C protein (\n                      <jats:italic>FANCC<\/jats:italic>\n                      ).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Among AJ patients found to have a pathogenic mutation on genetic assessment, approximately 22.8% had a mutation that would be missed with\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      AJ founder mutation testing. Comprehensive multigene panel sequencing can provide clinically relevant genetic information for AJ patients and should be considered for genetic assessment in this population.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/cncr.31856","type":"journal-article","created":{"date-parts":[[2018,11,27]],"date-time":"2018-11-27T13:04:27Z","timestamp":1543323867000},"page":"690-697","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Prevalence of nonfounder\n                    <i>BRCA1\/2<\/i>\n                    mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center"],"prefix":"10.1002","volume":"125","author":[{"given":"Melissa K.","family":"Frey","sequence":"first","affiliation":[{"name":"Division of Gynecologic Oncology, Weill Cornell Medicine  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohini V.","family":"Kopparam","sequence":"additional","affiliation":[{"name":"Division of Gynecologic Oncology, Weill Cornell Medicine  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhen","family":"Ni Zhou","sequence":"additional","affiliation":[{"name":"Division of Gynecologic Oncology, Weill Cornell Medicine  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica C.","family":"Fields","sequence":"additional","affiliation":[{"name":"Division of Gynecologic Oncology, Weill Cornell Medicine  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ama","family":"Buskwofie","sequence":"additional","affiliation":[{"name":"Division of Gynecologic Oncology, Weill Cornell Medicine  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann D.","family":"Carlson","sequence":"additional","affiliation":[{"name":"Genetic Risk Assessment Program, Weill Cornell Medicine  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Caputo","sequence":"additional","affiliation":[{"name":"Division of Gynecologic Oncology, Weill Cornell Medicine  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Holcomb","sequence":"additional","affiliation":[{"name":"Division of Gynecologic Oncology, Weill Cornell Medicine  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eloise","family":"Chapman\u2010Davis","sequence":"additional","affiliation":[{"name":"Division of Gynecologic Oncology, Weill Cornell Medicine  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,11,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2006.09.1066"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2016.1820"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2011.383"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-011-9506-2"},{"key":"e_1_2_8_6_1","unstructured":"2016 University of Washington Seattle WA N Petrucelli MB Daly T Pal BRCA1\u2010 and BRCA2 \u2010Associated Hereditary Breast and Ovarian Cancer. 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