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scholarships)","award":["09\/2019"],"award-info":[{"award-number":["09\/2019"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>BRCA1 and BRCA2 are associated with advanced prostate cancer progression and poor prognosis. Copy number variants (CNVs) of these genes play a crucial role in guiding targeted treatments, particularly for patients receiving PARP inhibitors. However, CNV detection using multiplex ligation-dependent probe amplification (MLPA) is often limited by tumor heterogeneity, leading to ambiguous results. This study therefore aimed to evaluate BRCA1\/2 CNVs in advanced prostate cancer patients using droplet digital PCR (ddPCR) and compare the results with MLPA. DNA from 11 advanced prostate cancer tissues was analyzed using both methods, in parallel with four cell lines and seven healthy volunteers. Our findings revealed that ddPCR effectively classified normal CNV groups\u2014including normal control cell lines, healthy volunteers, and samples with normal MLPA final ratios\u2014from deletion groups, which included deletion control cell lines, samples with deletion final ratios from MLPA, and cases with previously ambiguous results. Interestingly, two cases involving BRCA1 and one case involving BRCA2 exhibited ambiguous results using MLPA; however, ddPCR enabled more precise classification by applying the Youden Index from ROC analysis and identifying optimal cutoff values of 1.35 for BRCA1 and 1.55 for BRCA2. These optimal thresholds allowed ddPCR to effectively reclassify the ambiguous MLPA cases into the deletion group. Overall, ddPCR could offer a more sensitive and reliable approach for CNV detection in heterogeneous tissue samples and demonstrates strong potential as a biomarker tool for guiding targeted therapy in advanced prostate cancer patients. However, further validation in larger cohorts is necessary to optimize cutoff precision, confirm diagnostic performance, and evaluate the full clinical utility of ddPCR.<\/jats:p>","DOI":"10.3390\/ijms26146904","type":"journal-article","created":{"date-parts":[[2025,7,18]],"date-time":"2025-07-18T11:12:34Z","timestamp":1752837154000},"page":"6904","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Droplet Digital PCR Improves Detection of BRCA1\/2 Copy Number Variants in Advanced Prostate Cancer"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-4350-0350","authenticated-orcid":false,"given":"Phetploy","family":"Rungkamoltip","sequence":"first","affiliation":[{"name":"Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natthapon","family":"Khongcharoen","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natakorn","family":"Nokchan","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand"},{"name":"Translational Medicine Research Center, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zaukir","family":"Bostan Ali","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mooktapa","family":"Plikomol","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanan","family":"Bejrananda","sequence":"additional","affiliation":[{"name":"Urology Unit, Department of Surgery, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarayuth","family":"Boonchai","sequence":"additional","affiliation":[{"name":"Urology Unit, Department of Surgery, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarawut","family":"Chamnina","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1994-9430","authenticated-orcid":false,"given":"Waritorn","family":"Srakhao","sequence":"additional","affiliation":[{"name":"Translational Medicine Research Center, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3068-2412","authenticated-orcid":false,"given":"Pasarat","family":"Khongkow","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand"},{"name":"Translational Medicine Research Center, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.3390\/curroncol31030086","article-title":"Review on the Role of BRCA Mutations in Genomic Screening and Risk Stratification of Prostate Cancer","volume":"31","author":"Kalampokis","year":"2024","journal-title":"Curr. 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