{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T12:56:46Z","timestamp":1790600206191,"version":"4.1.0"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2021,5,8]],"date-time":"2021-05-08T00:00:00Z","timestamp":1620432000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000051","name":"NHGRI","doi-asserted-by":"publisher","award":["U01HG8657"],"award-info":[{"award-number":["U01HG8657"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"NHGRI","doi-asserted-by":"publisher","award":["U01HG8685"],"award-info":[{"award-number":["U01HG8685"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005292","name":"Brigham and Women\u2019s Hospital","doi-asserted-by":"crossref","award":["U01HG8672"],"award-info":[{"award-number":["U01HG8672"]}],"id":[{"id":"10.13039\/100005292","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100013017","name":"Vanderbilt University Medical Center","doi-asserted-by":"publisher","award":["U01HG8666"],"award-info":[{"award-number":["U01HG8666"]}],"id":[{"id":"10.13039\/100013017","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Cincinnati Children\u2019s Hospital Medical Center","award":["U01HG6379"],"award-info":[{"award-number":["U01HG6379"]}]},{"DOI":"10.13039\/100000871","name":"Mayo Clinic","doi-asserted-by":"publisher","award":["U01HG8679"],"award-info":[{"award-number":["U01HG8679"]}],"id":[{"id":"10.13039\/100000871","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Geisinger Clinic","award":["U01HG8680"],"award-info":[{"award-number":["U01HG8680"]}]},{"name":"Columbia University Health Sciences","award":["U01HG8684"],"award-info":[{"award-number":["U01HG8684"]}]},{"DOI":"10.13039\/100006458","name":"Children\u2019s Hospital of Philadelphia","doi-asserted-by":"crossref","award":["U01HG8673"],"award-info":[{"award-number":["U01HG8673"]}],"id":[{"id":"10.13039\/100006458","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100007059","name":"Northwestern University","doi-asserted-by":"publisher","award":["U01HG8701"],"award-info":[{"award-number":["U01HG8701"]}],"id":[{"id":"10.13039\/100007059","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Vanderbilt University Medical Center serving as the Coordinating Center","award":["U01HG8676"],"award-info":[{"award-number":["U01HG8676"]}]},{"name":"Partners Healthcare\/Broad Institute","award":["U01HG8664"],"award-info":[{"award-number":["U01HG8664"]}]},{"DOI":"10.13039\/100007856","name":"Baylor College of Medicine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007856","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,7,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Unbiased estimates of penetrance are challenging but critically important to make informed choices about strategies for risk management through increased surveillance and risk-reducing interventions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We studied the penetrance and clinical outcomes of 7 breast cancer susceptibility genes (BRCA1, BRCA2, TP53, CHEK2, ATM, PALB2, and PTEN) in almost 13 458 participants unselected for personal or family history of breast cancer. We identified 242 female participants with pathogenic or likely pathogenic variants in 1 of the 7 genes for penetrance analyses, and 147 women did not previously know their genetic results.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Out of the 147 women, 32 women were diagnosed with breast cancer at an average age of 52.8\u2009years. Estimated penetrance by age 60\u2009years ranged from 17.8% to 43.8%, depending on the gene. In clinical-impact analysis, 42.3% (95% confidence interval = 31.3% to 53.3%) of women had taken actions related to their genetic results, and 2 new breast cancer cases were identified within the first 12 months after genetic results disclosure.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our study provides population-based penetrance estimates for the understudied genes CHEK2, ATM, and PALB2 and highlights the importance of using unselected populations for penetrance studies. It also demonstrates the potential clinical impact of genetic testing to improve health care through early diagnosis and preventative screening.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/jncics\/pkab044","type":"journal-article","created":{"date-parts":[[2021,5,6]],"date-time":"2021-05-06T16:14:18Z","timestamp":1620317658000},"source":"Crossref","is-referenced-by-count":31,"title":["Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network"],"prefix":"10.1093","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8526-6945","authenticated-orcid":false,"given":"Xiao","family":"Fan","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA"},{"name":"Department of Systems Biology, Columbia University Irving Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Wynn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ning","family":"Shang","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6024-3037","authenticated-orcid":false,"given":"Cong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Fedotov","sequence":"additional","affiliation":[{"name":"Irving Institute for Clinical and Translational Research, Columbia University Irving Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8554-2447","authenticated-orcid":false,"given":"Miranda L G","family":"Hallquist","sequence":"additional","affiliation":[{"name":"Genomic Medicine Institute, Geisinger, Danville, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam H","family":"Buchanan","sequence":"additional","affiliation":[{"name":"Genomic Medicine Institute, Geisinger, Danville, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6165-8701","authenticated-orcid":false,"given":"Marc S","family":"Williams","sequence":"additional","affiliation":[{"name":"Genomic Medicine Institute, Geisinger, Danville, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9480-1092","authenticated-orcid":false,"given":"Maureen E","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Medicine, Northwestern University, Chicago Feinberg School of Medicine, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9477-4928","authenticated-orcid":false,"given":"Christin","family":"Hoell","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0820-7300","authenticated-orcid":false,"given":"Laura J","family":"Rasmussen-Torvik","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josh F","family":"Peterson","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia L","family":"Wiesner","sequence":"additional","affiliation":[{"name":"Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0423-4966","authenticated-orcid":false,"given":"Andrea M","family":"Murad","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail P","family":"Jarvik","sequence":"additional","affiliation":[{"name":"Department of Medicine (Medical Genetics), University of Washington Medical Center, Seattle, WA, 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R","family":"Crosslin","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics and Medical Education, University of Washington Medical Center, Seattle, WA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric B","family":"Larson","sequence":"additional","affiliation":[{"name":"Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen A","family":"Leppig","sequence":"additional","affiliation":[{"name":"Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3459-7787","authenticated-orcid":false,"given":"Nora B","family":"Henrikson","sequence":"additional","affiliation":[{"name":"Kaiser Permanente Washington Health Research Institute, Seattle, WA, 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The Breast Cancer Linkage Consortium","volume":"62","author":"Ford","year":"1998","journal-title":"Am J Hum Genet"},{"issue":"1","key":"2021080705122092900_pkab044-B4","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1038\/ng879","article-title":"Low-penetrance susceptibility to breast cancer due to CHEK2()1100delC in noncarriers of BRCA1 or BRCA2 mutations","volume":"31","author":"Meijers-Heijboer","year":"2002","journal-title":"Nat Genet"},{"issue":"1","key":"2021080705122092900_pkab044-B5","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1186\/1471-2407-8-155","article-title":"Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a clinical cancer genetics service setting: risks of breast\/ovarian cancer quoted should reflect the cancer burden in the family","volume":"8","author":"Evans","year":"2008","journal-title":"BMC Cancer"},{"issue":"4","key":"2021080705122092900_pkab044-B6","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/j.ajhg.2014.09.003","article-title":"Ascertainment bias causes false signal of anticipation in genetic prion disease","volume":"95","author":"Minikel","year":"2014","journal-title":"Am J Hum Genet"},{"issue":"5","key":"2021080705122092900_pkab044-B7","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1038\/s41431-019-0556-5","article-title":"Evidence for penetrance in patients without a family history of disease: a systematic review","volume":"28","author":"Turner","year":"2020","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"2021080705122092900_pkab044-B8","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1086\/375033","article-title":"Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies","volume":"72","author":"Antoniou","year":"2003","journal-title":"Am J Hum Genet"},{"issue":"5","key":"2021080705122092900_pkab044-B9","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1056\/NEJMoa2005936","article-title":"A population-based study of genes previously implicated in breast cancer","volume":"384","author":"Hu","year":"2021","journal-title":"N Engl J Med"},{"key":"2021080705122092900_pkab044-B10","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1056\/NEJMoa1913948","article-title":"Breast Cancer Association Consortium. 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