{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T10:34:56Z","timestamp":1766572496643,"version":"3.48.0"},"reference-count":27,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T00:00:00Z","timestamp":1766534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Current Oncology"],"abstract":"<jats:p>Background\/Objectives: Pathogenic and likely pathogenic variants in the BRCA1 and BRCA2 genes are associated with a significantly increased risk of breast and\/or ovarian cancer. We investigated genetic variants in a cohort of 450 unaffected individuals with a family history of breast and\/or ovarian cancer, involving at least one first-degree relative. Methods: Next-generation sequencing (NGS) was used to analyze the coding regions of these two genes, with copy number variation (CNV) analysis. Results: A total of 16 unique to our cohort variants classified as pathogenic or likely pathogenic were identified in 22 patients, including one novel loss-of-function variant in BRCA1 gene. Furthermore, we identified a deletion of exon 21 in the BRCA1 gene in two patients. Conclusions: These results emphasize the difficulties involved in molecular diagnostics and indicate the need for further research into new predictive models for patients with hereditary breast and ovarian cancer.<\/jats:p>","DOI":"10.3390\/curroncol33010010","type":"journal-article","created":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T09:58:34Z","timestamp":1766570314000},"page":"10","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Germline BRCA1\/2 Variants in Polish Patients with Family History of Breast and Ovarian Cancer: Prevalence, CNV Detection, and Identification of a Novel Loss-of-Function Mutation"],"prefix":"10.3390","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2760-2397","authenticated-orcid":false,"given":"Sebastian","family":"Skoczylas","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9503-278X","authenticated-orcid":false,"given":"Tomasz","family":"P\u0142oszaj","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1956-5063","authenticated-orcid":false,"given":"Izabela","family":"Dr\u00f3\u017cd\u017c","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1815-3326","authenticated-orcid":false,"given":"Hanna","family":"Moczulska","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcin","family":"Serafin","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-9590-9019","authenticated-orcid":false,"given":"Katarzyna","family":"Piekarska","sequence":"additional","affiliation":[{"name":"Student Society for Genetic Counselling and Clinical Genetics at the Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4754-7524","authenticated-orcid":false,"given":"Olga","family":"Wojtyczka","sequence":"additional","affiliation":[{"name":"Student Society for Genetic Counselling and Clinical Genetics at the Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karolina","family":"\u017be\u017cawska","sequence":"additional","affiliation":[{"name":"Student Society for Genetic Counselling and Clinical Genetics at the Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8781-4469","authenticated-orcid":false,"given":"Agnieszka","family":"Zmys\u0142owska","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,12,24]]},"reference":[{"key":"ref_1","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Amemiya, A. 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