{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T00:30:49Z","timestamp":1776299449544,"version":"3.50.1"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T00:00:00Z","timestamp":1661472000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007188","name":"Uniformed Services University of the Health Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007188","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Ductal carcinoma <jats:italic>in situ<\/jats:italic> (DCIS) is a malignant, yet pre-invasive disease of the breast. While the majority of DCIS have low risk of recurrence, a subset of women with germline pathogenic variants (PV) in cancer predisposition genes are at increased risk for recurrence. Uptake of genetic testing and subsequent surgical intervention in women with DCIS has not been well-studied. The aim of this study was to evaluate test eligibility parameters, uptake of clinical testing, impact on surgical decision making and second cancer events (SCE) in women with DCIS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Four-hundred eighty-four women diagnosed with unilateral DCIS 2001-2020 were eligible for this study. Demographic, commercial genetic test results and surgical procedures were extracted from the database. Test-eligibility was assigned using National Comprehensive Cancer Network (NCCN) criteria. Panel genetic testing was performed in the research laboratory across 94 cancer predisposition genes. Statistical analyses were performed using Fisher\u2019s exact tests and Chi-square analyses with <jats:italic>p<\/jats:italic> &amp;lt; 0.05 defining significance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Forty-four percent of women were test-eligible at diagnosis of which 63.4% pursued genetic testing before definitive surgery; 9.9% pursued testing only after a second cancer event. Bilateral mastectomy (BM) was significantly higher (p&amp;lt;0.001) in women who had testing before definitive surgery (46.9%) compared to those who had testing afterword (10.8%) and in women who underwent testing before definitive surgery with PV (75%) compared to those without PV (37.5%. p=0.045). Of the 39 women with PV, 20 (51.3%) were detected only in the research setting, with 7 (17.9%) of these women not eligible for genetic testing based on NCCN criteria. In women who did not undergo BM at diagnosis, SCE were significantly higher (p=0.001) in women with PV (33.3%) compared to those without PV (11.9%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Pursuit of genetic testing and subsequent use of risk-reducing surgeries in women with PV was suboptimal in women with a primary diagnosis of DCIS. In conjunction, &amp;gt;50% of PV were detected only in the research setting. Because omission of genetic testing in women with DCIS may represent a lost opportunity for prevention, genetic testing at the time of diagnosis should be standard for all women with DCIS.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fonc.2022.918757","type":"journal-article","created":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T10:19:19Z","timestamp":1661509159000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Eligibility, uptake and response to germline genetic testing in women with DCIS"],"prefix":"10.3389","volume":"12","author":[{"given":"Lauren","family":"Turza","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leann A.","family":"Lovejoy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clesson E.","family":"Turner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Craig D.","family":"Shriver","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel E.","family":"Ellsworth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,8,26]]},"reference":[{"key":"B1","article-title":"Breast ductal carcinoma in situ","volume-title":"StatPearls [Internet]","author":"Tomlinson-Hansen","year":"2021"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-005-9101-z","article-title":"The natural history of ductal carcinoma in situ of the breast: A review","volume":"97","author":"Erbas","year":"2006","journal-title":"Breast Cancer Res Treat"},{"key":"B3","volume-title":"Cancer facts and figures 2015: Special section: breast carcinoma in situ","year":"2015"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/j.breast.2016.09.001","article-title":"Finding the balance between over- and under-treatment of ductal carcinoma in situ (DCIS)","volume":"31","author":"Groen","year":"2017","journal-title":"Breast"},{"key":"B5","doi-asserted-by":"publisher","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":"B6","doi-asserted-by":"publisher","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":"B7","doi-asserted-by":"publisher","DOI":"10.1245\/s10434-018-6621-4","article-title":"Underdiagnosis of hereditary breast and ovarian cancer in Medicare patients: Genetic testing criteria miss the mark","volume":"25","author":"Yang","year":"2018","journal-title":"Ann Surg Oncol"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1245\/s10434-019-07549-8","article-title":"Consensus guidelines on genetic` testing for hereditary breast cancer from the American society of breast surgeons","volume":"26","author":"Manahan","year":"2019","journal-title":"Ann Surg Oncol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"234","DOI":"10.3390\/cancers12010234","article-title":"Should genetic testing for cancer predisposition be standard-of-Care for women with invasive breast cancer? The murtha cancer center experience","volume":"12","author":"Rummel","year":"2020","journal-title":"Cancers (Basel)"},{"key":"B10","volume-title":"NCCN clinical practice guidelines in oncology (NCCN guidelines): Breast cancer","year":"2021"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.20.00299","article-title":"Management of hereditary breast cancer: American society of clinical oncology, American society for radiation oncology, and society of surgical oncology guideline","volume":"38","author":"Tung","year":"2020","journal-title":"J Clin Oncol"},{"key":"B12","volume-title":"Genetic\/familial high-risk assessment: Breast, ovarian, and pancreatic cancer","year":"2021"},{"key":"B13","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1186\/s13058-019-1143-y","article-title":"Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years","volume":"21","author":"Petridis","year":"2019","journal-title":"Breast Cancer Res"},{"key":"B14","doi-asserted-by":"publisher","first-page":"pkaa094","DOI":"10.1093\/jncics\/pkaa094","article-title":"Prevalence of germline pathogenic and likely pathogenic variants in patients with second breast cancers","volume":"4","author":"Yao","year":"2020","journal-title":"JNCI Cancer Spectr"},{"key":"B15","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1007\/s10689-018-00114-4","article-title":"Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort","volume":"18","author":"Fulk","year":"2019","journal-title":"Fam Cancer"},{"key":"B16","doi-asserted-by":"publisher","first-page":"100235","DOI":"10.1016\/j.esmoop.2021.100235","article-title":"Impact of deleterious variants in other genes beyond BRCA1\/2 detected in breast\/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: Looking over the hedge","volume":"6","author":"Bono","year":"2021","journal-title":"ESMO Open"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1245\/s10434-017-5931-2","article-title":"Contralateral breast cancer risk in women with ductal carcinoma in situ: Is it high enough to justify bilateral mastectomy","volume":"24","author":"Miller","year":"2017","journal-title":"Ann Surg Oncol"}],"container-title":["Frontiers in Oncology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2022.918757\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T10:19:29Z","timestamp":1661509169000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2022.918757\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,26]]},"references-count":17,"alternative-id":["10.3389\/fonc.2022.918757"],"URL":"https:\/\/doi.org\/10.3389\/fonc.2022.918757","relation":{},"ISSN":["2234-943X"],"issn-type":[{"value":"2234-943X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,26]]},"article-number":"918757"}}