{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:54:03Z","timestamp":1790502843442,"version":"4.1.0"},"reference-count":68,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,5,31]],"date-time":"2025-05-31T00:00:00Z","timestamp":1748649600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Multigene panel testing for hereditary breast and ovarian cancer is becoming a standard in medical care. Recent studies highlight the importance of pathogenic variants in genes with moderate or low penetrance. 255 consecutive breast cancer cases who met the criteria for genetic testing were approached by next-generation sequencing. From 104 pathogenic mutations identified, 21 were in moderate-risk genes, three in low-risk genes and eight in the group with insufficient evidence genes. The most frequent PVs in moderate-risk genes were in the CHEK2 gene\u2014Checkpoint kinase 2 gene (13 cases), the ATM gene\u2014Ataxia-telangiectasia Mutated gene (six cases), BARD1\u2014BRCA1-associated ring domain 1 gene (one case) and RAD 51C\u2013radiation sensitive 51 Paralog C\u2014(one case) genes. Among the low-risk genes, we identified only three pathogenic mutations (two in MSH1 gene\u2014melanocyte-stimulating hormone gene\u2014and one in MLH1 gene\u2014MutL homolog 1 gene). Reporting on low-risk mutations and those with insufficient evidence regarding breast cancer risk is valuable to enable a more comprehensive view of genetic factors influencing disease development and improve screening protocols, tailor diagnostic strategies, and individualize treatment plans. This approach also enhances our understanding of BC risk in various populations, potentially leading to new insights into genetic contributions to cancer and the refinement of risk models for patient care.<\/jats:p>","DOI":"10.3390\/ijms26115313","type":"journal-article","created":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T11:40:32Z","timestamp":1748864432000},"page":"5313","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Moderate-Low Risk Breast Cancer Gene Expression in a Romanian Population"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6106-816X","authenticated-orcid":false,"given":"Iulian Gabriel","family":"Goidescu","sequence":"first","affiliation":[{"name":"Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7700-2384","authenticated-orcid":false,"given":"Ioana Cristina","family":"Rotar","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8567-1246","authenticated-orcid":false,"given":"Georgiana","family":"Nemeti","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adelina","family":"Staicu","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihai","family":"Surcel","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gheorghe","family":"Cruciat","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Mure\u0219an","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cerasela","family":"Goidescu","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Medical Clinic I\u2014Internal Medicine, Cardiology and Gastroenterology, University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6988-2828","authenticated-orcid":false,"given":"Dan","family":"Eniu","sequence":"additional","affiliation":[{"name":"Department of Surgery 2, University Emergency Hospital, University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,31]]},"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","first-page":"259","DOI":"10.1038\/s41571-021-00491-3","article-title":"The ten genes for breast (and ovarian) cancer susceptibility","volume":"18","author":"Foulkes","year":"2021","journal-title":"Nat. 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