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We investigated\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      prevalence and impact in the electronic health record (EHR)-linked Bio\n                      <jats:italic>Me<\/jats:italic>\n                      Biobank in New York City.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Exome sequence data from 30,223 adult Bio\n                      <jats:italic>Me<\/jats:italic>\n                      participants were evaluated for pathogenic variants in\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      . Prevalence estimates were made in population groups defined by genetic ancestry and self-report. EHR data were used to evaluate clinical characteristics of variant-positive individuals.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      There were 218 (0.7%) individuals harboring expected pathogenic variants, resulting in an overall prevalence of 1 in 139. The highest prevalence was in individuals with Ashkenazi Jewish (AJ; 1 in 49), Filipino and other\u00a0Southeast Asian (1 in 81), and non-AJ European (1 in 103) ancestry. Among 218 variant-positive individuals, 112 (51.4%) harbored known founder variants: 80 had AJ founder variants (\n                      <jats:italic>BRCA1<\/jats:italic>\n                      c.5266dupC and c.68_69delAG, and\n                      <jats:italic>BRCA2<\/jats:italic>\n                      c.5946delT), 8 had a Puerto Rican founder variant (\n                      <jats:italic>BRCA2<\/jats:italic>\n                      c.3922G&gt;T), and 24 had one of 19 other founder variants. Non-European populations were more likely to harbor\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      variants that were not classified in ClinVar or that had uncertain or conflicting evidence for pathogenicity (uncertain\/conflicting). Within mixed ancestry populations, such as Hispanic\/Latinos with genetic ancestry from Africa, Europe, and the Americas, there was a strong correlation between the proportion of African genetic ancestry and the likelihood of harboring an uncertain\/conflicting variant. Approximately 28% of variant-positive individuals had a personal history, and 45% had a personal or family history of\n                      <jats:italic>BRCA1\/2-<\/jats:italic>\n                      associated cancers. Approximately 27% of variant-positive individuals had prior clinical genetic testing for\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      . However, individuals with AJ founder variants were twice as likely to have had a clinical test (39%) than those with other pathogenic variants (20%).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      These findings deepen our knowledge about\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      variants and associated cancer risk in diverse populations, indicate a gap in knowledge about potential cancer-related variants in non-European populations, and suggest that genomic screening in diverse patient populations may be an effective tool to identify at-risk individuals.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13073-019-0691-1","type":"journal-article","created":{"date-parts":[[2019,12,31]],"date-time":"2019-12-31T08:02:43Z","timestamp":1577779363000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":88,"title":["Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank"],"prefix":"10.1186","volume":"12","author":[{"name":"CBIPM Genomics Team","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5179-1944","authenticated-orcid":false,"given":"Noura S.","family":"Abul-Husn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Regeneron Genetics Center","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily R.","family":"Soper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline A.","family":"Odgis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sinead","family":"Cullina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dean","family":"Bobo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arden","family":"Moscati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica E.","family":"Rodriguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth J. 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