{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T03:03:02Z","timestamp":1784516582060,"version":"3.55.0"},"reference-count":31,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T00:00:00Z","timestamp":1784246400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: Germline multigene testing is increasingly integrated into breast cancer care, but the ability of current eligibility frameworks to identify pathogenic variant carriers remains uncertain in real-world cohorts. Methods: This retrospective observational study included 556 patients with histologically confirmed breast cancer who underwent germline multigene testing at a single oncology center. Testing eligibility was retrospectively assessed according to NCCN criteria, ESMO-based recommendations, and the ASBrS universal-testing recommendations. Family history up to third-degree relatives and surgical data were evaluated. Results: Pathogenic variants were identified in 137 patients (24.6%), while variants of uncertain significance were reported in 310 patients (55.8%). NCCN criteria were fulfilled by 135 of 137 patients with pathogenic variants (98.5%), indicating high sensitivity but limited discriminatory capacity, as eligibility was also frequent among patients without pathogenic variants. ESMO-based criteria were met by 94 mutation-positive patients (68.6%) and were significantly associated with pathogenic variant status (p &lt; 0.001; OR = 3.08, 95% CI: 2.05\u20134.65). Notably, 42.3% of pathogenic-variant-positive patients reported no family history of malignancy. Prophylactic surgery was documented in only 16.8% of patients with pathogenic variants. Conclusions: NCCN criteria captured nearly all mutation-positive patients; ESMO-based criteria were more selective. The findings support broader access to germline testing before surgery.<\/jats:p>","DOI":"10.3390\/diagnostics16142244","type":"journal-article","created":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T02:32:08Z","timestamp":1784514728000},"page":"2244","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Real-World Eligibility for Germline Multigene Panel Testing in Breast Cancer: An Evaluation of Current Testing Criteria"],"prefix":"10.3390","volume":"16","author":[{"given":"Roxana","family":"Pintican","sequence":"first","affiliation":[{"name":"Department of Radiology, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Breast Cancer Center, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"},{"name":"Department of Radiology, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7497-5578","authenticated-orcid":false,"given":"Nicoleta Antone","family":"Zenovia","sequence":"additional","affiliation":[{"name":"Department of Radiology, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Breast Cancer Center, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"},{"name":"Department of Oncology, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7373-6877","authenticated-orcid":false,"given":"Vlad Alexandru","family":"Gata","sequence":"additional","affiliation":[{"name":"Department of Radiology, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Breast Cancer Center, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"},{"name":"Department of Surgery, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Moise","sequence":"additional","affiliation":[{"name":"Department of Radiology, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5340-5325","authenticated-orcid":false,"given":"Andrei","family":"Roman","sequence":"additional","affiliation":[{"name":"Department of Radiology, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Breast Cancer Center, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"},{"name":"Department of Radiology, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Lisencu","sequence":"additional","affiliation":[{"name":"Breast Cancer Center, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"},{"name":"Department of Radiology, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0229-8643","authenticated-orcid":false,"given":"Adrian Pavel","family":"Trifa","sequence":"additional","affiliation":[{"name":"Breast Cancer Center, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"},{"name":"Center for Research and Innovation in Personalized Medicine of Respiratory Diseases, Discipline of Medical Genetics, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"},{"name":"Center of Expertise on Rare Pulmonary Diseases, Clinical Hospital of Infectious Diseases and Pneumophysiology \u201cDr. Victor Babes\u201d, 300310 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0253-7103","authenticated-orcid":false,"given":"Ovidiu","family":"Balacescu","sequence":"additional","affiliation":[{"name":"Department of Genetics Genomics and Experimental Pathology, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madalina","family":"Filip","sequence":"additional","affiliation":[{"name":"Department of Radiology, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Miclaus","sequence":"additional","affiliation":[{"name":"Breast Cancer Center, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"},{"name":"Department of Genetics Genomics and Experimental Pathology, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9340-348X","authenticated-orcid":false,"given":"Andreea","family":"Catana","sequence":"additional","affiliation":[{"name":"Department of Radiology, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Breast Cancer Center, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"},{"name":"Department of Genetic Explorations, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"},{"name":"Department of Medical Genetics, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catalin","family":"Vlad","sequence":"additional","affiliation":[{"name":"Department of Radiology, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Breast Cancer Center, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"},{"name":"Department of Surgery, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9928-5883","authenticated-orcid":false,"given":"Patriciu","family":"Achimas-Cadariu","sequence":"additional","affiliation":[{"name":"Department of Radiology, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Breast Cancer Center, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"},{"name":"Department of Surgery, The Oncology Institute \u201cProf. Dr. Ion Chiricuta\u201d, 400015 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,7,17]]},"reference":[{"key":"ref_1","first-page":"209","article-title":"Global cancer statistics 2020: GLOBOCAN estimates","volume":"71","author":"Sung","year":"2021","journal-title":"CA Cancer J. Clin."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1016\/S0140-6736(16)31891-8","article-title":"Breast cancer","volume":"389","author":"Harbeck","year":"2017","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2402","DOI":"10.1001\/jama.2017.7112","article-title":"BRCA1 and BRCA2 mutation risks","volume":"317","author":"Kuchenbaecker","year":"2017","journal-title":"JAMA"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2243","DOI":"10.1056\/NEJMsr1501341","article-title":"Gene-panel sequencing and breast cancer risk","volume":"372","author":"Easton","year":"2015","journal-title":"N. Engl. J. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/jso.27630","article-title":"Clinical genetics in breast cancer","volume":"130","author":"Ntowe","year":"2024","journal-title":"J. Surg. Oncol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/s41571-023-00840-4","article-title":"The CDK4\/6 inhibitor revolution\u2014a game-changing era for breast cancer treatment","volume":"21","author":"Morrison","year":"2024","journal-title":"Nat. Rev. Clin. Oncol."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Daly, M.B., Pal, T., Berry, M.P., Buys, S.S., Dickson, P., Domchek, S.M., Elkhanany, A., Friedman, S., Goggins, M., and Hutton, M.L. (2023, January 28). NCCN Clinical Practice Guidelines in Oncology: Genetic\/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. Version 2. Available online: https:\/\/jnccn.org\/view\/journals\/jnccn\/19\/1\/article-p77.xml.","DOI":"10.6004\/jnccn.2021.0001"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2080","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":"ref_9","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1056\/NEJMoa1706450","article-title":"Olaparib for metastatic breast cancer in patients with a germline BRCA mutation","volume":"377","author":"Robson","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2394","DOI":"10.1056\/NEJMoa2105215","article-title":"Adjuvant olaparib for patients with BRCA1- or BRCA2-mutated breast cancer","volume":"384","author":"Tutt","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1093\/annonc\/mdz173","article-title":"ESMO Clinical Practice Guidelines","volume":"30","author":"Cardoso","year":"2019","journal-title":"Ann. Oncol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1200\/JCO.23.02225","article-title":"Germline testing in patients with breast cancer: ASCO\u2013Society of Surgical Oncology guideline","volume":"42","author":"Bedrosian","year":"2024","journal-title":"J. Clin. Oncol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1638255","DOI":"10.3389\/or.2025.1638255","article-title":"Universal vs. ASCO guidelines-based germline genetic testing for newly diagnosed breast cancer patients in resource-restricted settings","volume":"19","author":"Tamimi","year":"2026","journal-title":"Oncol. Rev."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2232","DOI":"10.1200\/JCO.2016.71.6480","article-title":"Gaps in incorporating germline genetic testing into treatment decision-making for early-stage breast cancer","volume":"35","author":"Kurian","year":"2017","journal-title":"J. Clin. Oncol."},{"key":"ref_15","first-page":"1001","article-title":"Genetic\/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024, Featured Updates to the NCCN Guidelines","volume":"21","author":"Daly","year":"2023","journal-title":"J. Natl. Compr. Cancer Netw."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.annonc.2023.11.016","article-title":"Early breast cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up","volume":"35","author":"Loibl","year":"2024","journal-title":"Ann. Oncol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"3025","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":"ref_18","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1016\/j.annonc.2022.07.007","article-title":"ESO\u2013ESMO fifth international consensus guidelines for breast cancer in young women (BCY5)","volume":"33","author":"Cardoso","year":"2022","journal-title":"Ann. Oncol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1692","DOI":"10.1016\/j.pec.2020.03.015","article-title":"The impact of communicating uncertain test results in cancer genetic counseling: A systematic mixed studies review","volume":"103","author":"Medendorp","year":"2020","journal-title":"Patient Educ. Couns."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1111\/cge.12563","article-title":"Genetic counselors\u2019 practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing","volume":"88","author":"Scherr","year":"2015","journal-title":"Clin. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/s41523-024-00686-8","article-title":"BRCA genetic testing and counseling in breast cancer: How do we meet our patients\u2019 needs?","volume":"10","author":"Dubsky","year":"2024","journal-title":"npj Breast Cancer"},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Manna, E.D.F., Serrano, D., Cazzaniga, L., Mannucci, S., Zanzottera, C., Fava, F., Aurilio, G., Guerrieri-Gonzaga, A., Risti, M., and Calvello, M. (2025). Hereditary Breast Cancer: Comprehensive Risk Assessment and Prevention Strategies. Genes, 16.","DOI":"10.3390\/genes16010082"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"10596","DOI":"10.1200\/JCO.2024.42.16_suppl.10596","article-title":"A targeted panel of actionable high-risk hereditary cancer predisposition genes to identify patients with pathogenic\/likely pathogenic variants (PVs) irrespective of meeting established NCCN testing criteria","volume":"42","author":"Lee","year":"2024","journal-title":"J. Clin. Oncol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"3060","DOI":"10.1245\/s10434-017-5963-7","article-title":"Expanded Gene Panel Use for Women with Breast Cancer: Identification and Intervention Beyond Breast Cancer Risk","volume":"24","author":"Iacoboni","year":"2017","journal-title":"Ann. Surg. Oncol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1200\/JCO.2004.04.188","article-title":"Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers","volume":"22","author":"Rebbeck","year":"2004","journal-title":"J. Clin. Oncol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1001\/jama.2010.1237","article-title":"Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers","volume":"304","author":"Domchek","year":"2010","journal-title":"JAMA"},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Oxley, S., Wei, X., Sideris, M., and Manchanda, R. (2023). Cost-Effectiveness of Genetic Testing Strategies for Breast Cancer. Screening and Risk Reduction Strategies for Breast Cancer, Springer.","DOI":"10.1007\/978-981-19-7630-8_8"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"103642","DOI":"10.1016\/j.critrevonc.2022.103642","article-title":"Challenges in breast cancer genetic testing. A call for novel forms of multidisciplinary care and long-term evaluation","volume":"176","author":"Menko","year":"2022","journal-title":"Crit. Rev. Oncol. Hematol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"248","DOI":"10.6004\/jnccn.2025.7011","article-title":"Utilization of cancer screening, prevention, and treatment in women with variants of uncertain significance in breast cancer susceptibility genes","volume":"23","author":"Nielsen","year":"2025","journal-title":"J. Natl. Compr. Cancer Netw."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"e2339571","DOI":"10.1001\/jamanetworkopen.2023.39571","article-title":"Rates and classification of variants of uncertain significance in hereditary disease genetic testing","volume":"6","author":"Chen","year":"2023","journal-title":"JAMA Netw. Open"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/16\/14\/2244\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T02:54:57Z","timestamp":1784516097000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/16\/14\/2244"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,17]]},"references-count":31,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2026,7]]}},"alternative-id":["diagnostics16142244"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics16142244","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,17]]}}}