{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T09:48:30Z","timestamp":1789984110403,"version":"4.0.1"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,1,18]],"date-time":"2025-01-18T00:00:00Z","timestamp":1737158400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","thebreastonline.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Breast"],"published-print":{"date-parts":[[2025,4]]},"DOI":"10.1016\/j.breast.2025.103887","type":"journal-article","created":{"date-parts":[[2025,1,21]],"date-time":"2025-01-21T00:08:09Z","timestamp":1737418089000},"page":"103887","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative"],"prefix":"10.1016","volume":"80","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3798-5977","authenticated-orcid":false,"given":"Jan","family":"Henkel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Laner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Locher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Wohlfrom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Neitzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerstin","family":"Becker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Neuhann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Abicht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Verena","family":"Steinke-Lange","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Klink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Eichhorn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Winfried","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Berner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Teubert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Holtorf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Heinrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Wildhardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Schulze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"von der Heyden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstanze","family":"H\u00f6rtnagel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Steinberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia","family":"Kleier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Lorenz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf","family":"Glaubitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia","family":"Biskup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke","family":"Holinski-Feder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.breast.2025.103887_bib1","doi-asserted-by":"crossref","first-page":"11","DOI":"10.3322\/caac.21166","article-title":"Cancer statistics, 2013","volume":"63","author":"Siegel","year":"2013","journal-title":"CA Cancer J Clin"},{"key":"10.1016\/j.breast.2025.103887_bib2","doi-asserted-by":"crossref","first-page":"R92","DOI":"10.1186\/bcr3493","article-title":"Critical research gaps and translational priorities for the successful prevention and treatment of breast cancer","volume":"15","author":"Eccles","year":"2013","journal-title":"Breast Cancer Res"},{"key":"10.1016\/j.breast.2025.103887_bib3","doi-asserted-by":"crossref","first-page":"2243","DOI":"10.1056\/NEJMsr1501341","article-title":"Gene-panel sequencing and the prediction of breast-cancer risk","volume":"372","author":"Easton","year":"2015","journal-title":"N Engl J Med"},{"key":"10.1016\/j.breast.2025.103887_bib4","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1007\/s10549-017-4181-0","article-title":"Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients","volume":"163","author":"Crawford","year":"2017","journal-title":"Breast Cancer Res Treat"},{"key":"10.1016\/j.breast.2025.103887_bib5","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.ajhg.2018.11.002","article-title":"Polygenic risk scores for prediction of breast cancer and breast cancer subtypes","volume":"104","author":"Mavaddat","year":"2019","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.breast.2025.103887_bib6","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1002\/humu.23017","article-title":"A review of whole-exome sequencing efforts toward hereditary breast cancer susceptibility gene discovery","volume":"37","author":"Chandler","year":"2016","journal-title":"Hum Mutat"},{"key":"10.1016\/j.breast.2025.103887_bib7","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1146\/annurev.genom.9.081307.164339","article-title":"Genetic predisposition to breast cancer: past, present, and future","volume":"9","author":"Turnbull","year":"2008","journal-title":"Annu Rev Genom Hum Genet"},{"key":"10.1016\/j.breast.2025.103887_bib8","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/humu.21627","article-title":"A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)","volume":"33","author":"Lindor","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1016\/j.breast.2025.103887_bib9","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s12920-022-01270-4","article-title":"How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?","volume":"15","author":"Kwong","year":"2022","journal-title":"BMC Med Genom"},{"key":"10.1016\/j.breast.2025.103887_bib10","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1038\/s41436-020-00957-2","article-title":"Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis","volume":"23","author":"Mighton","year":"2021","journal-title":"Genet Med"},{"key":"10.1016\/j.breast.2025.103887_bib11","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1038\/s41431-023-01380-2","article-title":"Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients","volume":"31","author":"Henkel","year":"2023","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.breast.2025.103887_bib12","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1055\/a-1110-0909","article-title":"Criteria of the German Consortium for hereditary breast and ovarian cancer for the classification of germline sequence variants in risk genes for hereditary breast and ovarian cancer","volume":"80","author":"Wappenschmidt","year":"2020","journal-title":"Geburtshilfe Frauenheilkd"},{"key":"10.1016\/j.breast.2025.103887_bib13","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1186\/s13073-022-01101-2","article-title":"Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients","volume":"14","author":"Ceyhan-Birsoy","year":"2022","journal-title":"Genome Med"},{"key":"10.1016\/j.breast.2025.103887_bib14","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1200\/JCO.18.01631","article-title":"Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle?","volume":"37","author":"Beitsch","year":"2019","journal-title":"J Clin Oncol"},{"key":"10.1016\/j.breast.2025.103887_bib15","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1001\/jamaoncol.2020.6252","article-title":"Comparison of universal genetic testing vs guideline-directed targeted testing for patients with hereditary cancer syndrome","volume":"7","author":"Samadder","year":"2021","journal-title":"JAMA Oncol"},{"key":"10.1016\/j.breast.2025.103887_bib16","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1056\/NEJMoa1913948","article-title":"Breast cancer risk genes - association analysis in more than 113,000 women","volume":"384","author":"Dorling","year":"2021","journal-title":"N Engl J Med"},{"key":"10.1016\/j.breast.2025.103887_bib17","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1038\/s41436-019-0633-8","article-title":"A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients","volume":"22","author":"LaDuca","year":"2020","journal-title":"Genet Med"},{"key":"10.1016\/j.breast.2025.103887_bib18","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2023.100947","article-title":"The landscape of reported VUS in multi-gene panel and genomic testing: time for a change","volume":"25","author":"Rehm","year":"2023","journal-title":"Genet Med"},{"key":"10.1016\/j.breast.2025.103887_bib19","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1007\/s12282-019-00951-w","article-title":"Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast\/ovarian cancer using the ACMG\/AMP 2015 guidelines","volume":"26","author":"So","year":"2019","journal-title":"Breast Cancer"},{"key":"10.1016\/j.breast.2025.103887_bib20","doi-asserted-by":"crossref","first-page":"417","DOI":"10.18632\/oncotarget.26501","article-title":"The effects of genomic germline variant reclassification on clinical cancer care","volume":"10","author":"Slavin","year":"2019","journal-title":"Oncotarget"},{"key":"10.1016\/j.breast.2025.103887_bib21","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1200\/PO.20.00399","article-title":"Impact of variant reclassification in cancer predisposition genes on clinical care","volume":"5","author":"Chiang","year":"2021","journal-title":"JCO Precis Oncol"}],"container-title":["The Breast"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960977625000165?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960977625000165?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,3,18]],"date-time":"2025-03-18T23:41:27Z","timestamp":1742341287000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960977625000165"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4]]},"references-count":21,"alternative-id":["S0960977625000165"],"URL":"https:\/\/doi.org\/10.1016\/j.breast.2025.103887","relation":{},"ISSN":["0960-9776"],"issn-type":[{"value":"0960-9776","type":"print"}],"subject":[],"published":{"date-parts":[[2025,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative","name":"articletitle","label":"Article Title"},{"value":"The Breast","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.breast.2025.103887","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}],"article-number":"103887"}}