{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T02:19:23Z","timestamp":1787883563321,"version":"build-2784847793"},"reference-count":21,"publisher":"American Society of Clinical Oncology (ASCO)","issue":"8","content-domain":{"domain":["ascopubs.org"],"crossmark-restriction":true},"short-container-title":["JCO Precis Oncol"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:sec><jats:title>PURPOSE<\/jats:title><jats:p> The autosomal dominant cancer predisposition disorders hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) are genetic conditions for which early identification and intervention have a positive effect on the individual and public health. The goals of this study were to determine whether germline genetic screening using exome sequencing could be used to efficiently identify carriers of HBOC and LS. <\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p> Participants were recruited from three geographically and racially diverse sites in the United States (Rochester, MN; Phoenix, AZ; Jacksonville, FL). Participants underwent Exome+ sequencing (Helix Inc, San Mateo, CA) and return of results for specific genetic findings: HBOC ( BRCA1 and BRCA1) and LS ( MLH1, MSH2, MSH6, PMS2, and EPCAM). Chart review was performed to collect demographics and personal and family cancer history. <\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p> To date, 44,306 participants have enrolled in Tapestry. Annotation and interpretation of all variants in genes for HBOC and LS resulted in the identification of 550 carriers (prevalence, 1.24%), which included 387 with HBOC (27.2% BRCA1, 42.8% BRCA2) and 163 with LS (12.3% MSH6, 8.8% PMS2, 4.5% MLH1, 3.8% MSH2, and 0.2% EPCAM). More than half of these participants (52.1%) were newly diagnosed carriers with HBOC and LS. In all, 39.2% of HBOC\/LS carriers did not satisfy National Comprehensive Cancer Network (NCCN) criteria for genetic evaluation. NCCN criteria were less commonly met in underrepresented minority populations versus self-reported White race (51.5% v 37.5%, P = .028). <\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p> Our results emphasize the need for wider utilization of germline genetic sequencing for enhanced screening and detection of individuals who have LS and HBOC cancer predisposition syndromes. <\/jats:p><\/jats:sec>","DOI":"10.1200\/po.24.00106","type":"journal-article","created":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T20:00:25Z","timestamp":1721160025000},"update-policy":"https:\/\/doi.org\/10.1200\/crossmark","source":"Crossref","is-referenced-by-count":6,"title":["Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations"],"prefix":"10.1200","clinical-trial-number":[{"clinical-trial-number":"nct05212428","registry":"10.18810\/clinical-trials-gov"}],"author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7182-5569","authenticated-orcid":true,"given":"N. Jewel","family":"Samadder","sequence":"first","affiliation":[{"name":"Division of Gastroenterology & Hepatology, Department of Medicine, Mayo Clinic, Phoenix, AZ"},{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"},{"name":"Comprehensive Cancer Center, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3167-9369","authenticated-orcid":true,"given":"Emily","family":"Gay","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology & Hepatology, Department of Medicine, Mayo Clinic, Rochester, MN"},{"name":"Genetic Counseling Program, Arizona State University, Tucson, AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-9900-8311","authenticated-orcid":true,"given":"Vanda","family":"Lindpere","sequence":"additional","affiliation":[{"name":"Department of Quantitative Health Sciences, Mayo Clinic, Scottsdale, AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-5368-6752","authenticated-orcid":true,"given":"Michelle L.","family":"Bublitz","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-7146-0426","authenticated-orcid":true,"given":"Lorelei A.","family":"Bandel","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9796-7087","authenticated-orcid":true,"given":"Sebastian M.","family":"Armasu","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Vierkant","sequence":"additional","affiliation":[{"name":"Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew J.","family":"Ferber","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"},{"name":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2946-5795","authenticated-orcid":true,"given":"Eric W.","family":"Klee","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3468-4215","authenticated-orcid":true,"given":"Nicholas B.","family":"Larson","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa M.","family":"Kruisselbrink","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan B.","family":"Egan","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Kemppainen","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4704-3844","authenticated-orcid":true,"given":"Jessa S.","family":"Bidwell","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Anderson","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tammy M.","family":"McAllister","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T'Nita S.","family":"Walker","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6850-6823","authenticated-orcid":true,"given":"Katie L.","family":"Kunze","sequence":"additional","affiliation":[{"name":"Department of Quantitative Health Sciences, Mayo Clinic, Scottsdale, AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Golafshar","sequence":"additional","affiliation":[{"name":"Department of Quantitative Health Sciences, Mayo Clinic, Scottsdale, AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret A.","family":"Klint","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Mayo Clinic, Phoenix, AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6990-1323","authenticated-orcid":true,"given":"Richard J.","family":"Presutti","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"},{"name":"Department of Family Medicine, Mayo Clinic, Jacksonville, FL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William V.","family":"Bobo","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"},{"name":"Department of Psychiatry & Psychology, Mayo Clinic, Jacksonville, FL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksander","family":"Sekulic","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"},{"name":"Department of Dermatology, Mayo Clinic, Scottsdale, AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolene M.","family":"Summer-Bolster","sequence":"additional","affiliation":[{"name":"Comprehensive Cancer Center, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1524-2622","authenticated-orcid":true,"given":"Cheryl L.","family":"Willman","sequence":"additional","affiliation":[{"name":"Comprehensive Cancer Center, Mayo Clinic, Rochester, MN"},{"name":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0437-681X","authenticated-orcid":true,"given":"Konstantinos N.","family":"Lazaridis","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN"},{"name":"Comprehensive Cancer Center, Mayo Clinic, Rochester, MN"},{"name":"Division of Gastroenterology & Hepatology, Department of Medicine, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"233","reference":[{"key":"b1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaf6814"},{"key":"b2","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-020-0982-5"},{"key":"b3","doi-asserted-by":"publisher","DOI":"10.31478\/201812a"},{"key":"b4","doi-asserted-by":"publisher","DOI":"10.1038\/ajg.2014.435"},{"key":"b5","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2017.7112"},{"key":"b6","doi-asserted-by":"publisher","DOI":"10.6004\/jnccn.2019.0044"},{"key":"b7","first-page":"1122","volume":"19","author":"Weiss JM","year":"2021","journal-title":"J Natl Compr Canc Netw"},{"key":"b8","doi-asserted-by":"publisher","DOI":"10.6004\/jnccn.2021.0001"},{"key":"b9","doi-asserted-by":"publisher","DOI":"10.1136\/gutjnl-2017-314057"},{"key":"b10","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2014.57.8088"},{"key":"b11","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2020.6252"},{"key":"b12","author":"Idos GE","journal-title":"JCO Precis Oncol"},{"key":"b13","unstructured":"Khadarian KA, Pisipati S, Jones JC, et al: Universal genetic testing for hereditary cancer syndromes in an under-represented minority population. Poster presented at AACR 2023 Meeting, 2023"},{"key":"b14","doi-asserted-by":"publisher","DOI":"10.1016\/j.cgh.2018.08.038"},{"key":"b15","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2020.22874"},{"key":"b16","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.01.017"},{"key":"b17","doi-asserted-by":"publisher","DOI":"10.7326\/M22-0846"},{"key":"b18","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djy147"},{"key":"b19","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-019-0096-5"},{"key":"b20","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2017.07.003"},{"key":"b21","doi-asserted-by":"publisher","DOI":"10.2471\/BLT.07.050112"}],"container-title":["JCO Precision Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/ascopubs.org\/doi\/pdfdirect\/10.1200\/PO.24.00106","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T20:00:48Z","timestamp":1721160048000},"score":1,"resource":{"primary":{"URL":"https:\/\/ascopubs.org\/doi\/10.1200\/PO.24.00106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7]]},"references-count":21,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1200\/PO.24.00106"],"URL":"https:\/\/doi.org\/10.1200\/po.24.00106","relation":{},"ISSN":["2473-4284"],"issn-type":[{"value":"2473-4284","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7]]},"assertion":[{"value":"2024-02-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-28","order":1,"name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2400106"}}