{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:36:07Z","timestamp":1787027767284,"version":"build-2736575974"},"reference-count":49,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T00:00:00Z","timestamp":1739232000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Background\/Objectives: Ductal carcinoma in situ (DCIS) is the most common non-invasive form of breast cancer. It is not clear to what extent DCIS is a part of the hereditary breast\/ovarian cancer syndrome caused by BRCA1\/2 mutations. Therefore, we investigated the association of BRCA1\/2 mutations in patients with DCIS and assessed their impact on survival. Methods: We studied 564 Polish women with DCIS for six alleles in BRCA1 (c.181T&gt;G, c.5266dupC, c.4035delA, c.3700_3704del5, c.68_69del and c.5251C&gt;T) and four in BRCA2 (c.658_659del, c.3847_3848del, c.5946del and c.7913_7917del). To investigate the association of BRCA1\/2 founder mutations with DCIS risk, we tested 4702 controls as a reference. To analyze survival, mutation carriers were followed for an average of 110 months. Results: A BRCA1 mutation was present in seven (1.24%) cases and in twenty-two (0.47%) controls (OR = 3.27, 95%CI 1.36 to 7.87, p = 0.01). A BRCA2 mutation was present in eight (1.42%) cases versus six (0.13%) controls (OR = 11.3, 95%CI 3.9 to 32.6, p &lt; 0.0001). Three of the fifteen cases with BRCA1\/2 mutations developed invasive ipsilateral or contralateral breast cancer, on average 6 years from the diagnosis of DCIS. There were no deaths reported among the 15 mutation carriers with DCIS. Conclusions: DCIS is a part of the hereditary breast\/ovarian cancer syndrome caused by BRCA1\/2 mutations. Women with DCIS should receive genetic counseling and testing for BRCA1\/2 mutations. BRCA1\/2 mutations may predispose women to a better DCIS prognosis, but further studies are needed.<\/jats:p>","DOI":"10.3390\/cancers17040613","type":"journal-article","created":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T08:05:42Z","timestamp":1739347542000},"page":"613","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["BRCA1 and BRCA2 Mutations in Polish Women with Ductal Carcinoma In Situ"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2966-7565","authenticated-orcid":false,"given":"Sylwia","family":"Feszak","sequence":"first","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"},{"name":"Department of Pediatrics, Pediatric Oncology, and Immunology, Pomeranian Medical University, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0719-1754","authenticated-orcid":false,"given":"Igor Jaros\u0142aw","family":"Feszak","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"},{"name":"Institute of Health Sciences, Pomeranian University in S\u0142upsk, 76-200 S\u0142upsk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0782-4905","authenticated-orcid":false,"given":"Wojciech","family":"Klu\u017aniak","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0191-1570","authenticated-orcid":false,"given":"Dominika","family":"Woko\u0142orczyk","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1909-9333","authenticated-orcid":false,"given":"Klaudia","family":"Stempa","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3110-0373","authenticated-orcid":false,"given":"Katarzyna","family":"Gliniewicz","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Uci\u0144ski","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Huzarski","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"},{"name":"Department of Clinical Genetics and Pathology, University of Zielona G\u00f3ra, 65-046 Zielona G\u00f3ra, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3506-8932","authenticated-orcid":false,"given":"Tadeusz","family":"D\u0119bniak","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3643-2871","authenticated-orcid":false,"given":"Jacek","family":"Gronwald","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2931-3003","authenticated-orcid":false,"given":"Jan","family":"Lubi\u0144ski","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5798-0626","authenticated-orcid":false,"given":"Steven A.","family":"Narod","sequence":"additional","affiliation":[{"name":"Women\u2019s College Research Institute, Women\u2019s College Hospital, Toronto, ON M5S 1B2, Canada"},{"name":"Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5T 3M7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2819-3057","authenticated-orcid":false,"given":"Cezary","family":"Cybulski","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,2,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.breast.2022.08.010","article-title":"Current and Future Burden of Breast Cancer: Global Statistics for 2020 and 2040","volume":"66","author":"Arnold","year":"2022","journal-title":"Breast"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Gliniewicz, K., Klu\u017aniak, W., Woko\u0142orczyk, D., Huzarski, T., Stempa, K., Rudnicka, H., Jakubowska, A., Szwiec, M., Jarkiewicz-Tretyn, J., and Naczk, M. 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