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Prevalence and variant spectrum of pathogenic/likely pathogenic and VUS BRCA1/2 alterations were assessed and related to histopathology. Germline variants were found in 67/259 cases, with increased mutation likelihood as risk criteria count rose; three or more criteria predicted carriers. Positive family history and triple-negative breast cancer were strongest independent predictors, and results modified healthcare management in 86.9% of cases.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":40,"@type":76,"position":81},"https://docshare.wps.com/document/research-report/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/germline-brca-testing-in-routine-clinical-practice-a-single-center-experience/352524/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/germline-brca-testing-in-routine-clinical-practice-a-single-center-experience/352524.png","ImageObject",300,407,{"name":92,"@type":93},"Genevieve","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-09-27","2026-09-22",true,{"@type":102,"interactionType":103,"userInteractionCount":81},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What patient group and time period were analyzed in this single-center study?","Question",{"text":112,"@type":113},"Breast cancer patients with a known germline BRCA1/2 status were treated between 2019 and 2021, and the analysis used patient- and disease-specific medical data from a retrospective cohort.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"How common were germline BRCA1/2 pathogenic/likely pathogenic variants?",{"text":117,"@type":113},"Germline variants were identified in 67 of 259 cases, including 61 pathogenic/likely pathogenic alterations and six BRCA1/2 variants of unknown significance (VUS).",{"name":119,"@type":110,"acceptedAnswer":120},"Which factors most strongly predicted carrying a germline BRCA1/2 pathogenic/likely pathogenic variant?",{"text":121,"@type":113},"The study found that positive family history and triple-negative breast cancer were the strongest independent predictive factors.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},352524,1790151641,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":39,"category_name":40,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":81,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":139,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":145},1374391974585,"https://ap-avatar.wpscdn.com/davatar_276721f389ce27ea32af1340a28f341c","TYPE Original Research PUBLISHED 20 February 2026 DOI 10.3389/pore.2026.1612238  \nOPEN ACCESS  \nEDITED BY  \nJanina Kulka,  \nSemmelweis University, Hungary  \n*CORRESPONDENCE  \nZoltán Varga,  \n [varga.zoltan@med.u-szeged.hu](varga.zoltan@med.u-szeged.hu)  \nRECEIVED 05 August 2025  \nREVISED 10 November 2025  \nACCEPTED 16 January 2026  \nPUBLISHED 20 February 2026  \nCITATION  \nNikolényi A, Dobi Á, Sántha D, Kószó R, Iványi M, Horváth E, Enyedi MZ, Priskin K, Csányi B, Patócs A, Butz H, Papp J, Varga Z, Tóth R, Oláh J and Kahán Z (2026) Germline BRCA testing in routine  \nclinical practice: a singlecenter experience.  \nPathol. Oncol. Res. 32:1612238 .  \ndoi: 10.3389/pore.2026.1612238  \nCOPYRIGHT  \n© 2026 Nikolényi, Dobi, Sántha, Kószó, Iványi, Horváth, Enyedi, Priskin, Csányi, Patócs, Butz, Papp, Varga, Tóth, Oláhand Kahán. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.  \nGermline BRCA testing in routine clinical practice: a single-center experience  \nAliz Nikolényi 1, Ágnes Dobi 1, Dóra Sántha 1, Renáta Kószó 1, Máté Iványi 1, Emese Horváth 2, Márton Zsolt Enyedi 3, Katalin Priskin 3, Bernadett Csányi 3, Attila Patócs 4, Henriett Butz 4, János Papp 4, Zoltán Varga 1*, Rozália Tóth 1, Judit Oláh 1 and Zsuzsanna Kahán 1  \n1Department of Oncotherapy, University of Szeged, Szeged, Hungary, 2Department of Medical Genetics, University of Szeged, Szeged, Hungary, 3Delta Bio 2000 Ltd., Szeged, Hungary, 4Department of Molecular Genetics and The National Tumour Biology Laboratory, National Institute of Oncology, Comprehensive Cancer Centre, Budapest, Hungary  \nThe identification of gBRCA1/2 mutations in breast cancer patients is crucial. Successful identification of the mutations has the potential to alter disease treatment and healthcare management of patients whose relatives harbor pathogenic/likely pathogenic (P/LP) variants. In this retrospective analysis, patient- and disease-specific medical data were analyzed in a cohort of breast cancer patients with a known gBRCA1/2 status who were treated between 2019–2021. The prevalence and type of gBRCA1/2 P/LP variants, and their relation to the histopathological data of the cancers, were studied. The presence of one or more clinical criteria leading to germline testing, the outcome of patient management, and family member outcomes were collected. Germline variants were found in 67/259 cases and included 61 P/LP alterations and six “variants of unknown significance” (VUS) of the BRCA1/2 genes. A spectrum of 31 different variants was detected; eight of them occurred in more than one patient, of which three (detected in 26 cases) belonged to the mutations most prevalently detected by the previously used technology in Hungary. The likelihood of revealing a pathogenic gBRCA1/2 mutation increased with the number of risk criteria for germline testing. The presence of three or more risk criteria was predictive for carrying a gBRCA1/2 mutation with an odds ratio (OR) of 10.65 (95% CI 5.20–21. 80, p \u003C 0. 001) . Among the histopathology data, a higher rate of grade 3 or triple negative breast cancer was found among gBRCA1/2 P/LP variant carriers as compared to that in non-carriers. For ultimately revealing a gBRCA1/2 P/LP variant, a positive family history (OR 6. 69, 95% CI 1.82–24. 64, p = 0. 003) and triple negative breast cancer (OR 5. 65, 95% CI 2.73–11. 71, p \u003C 0. 001) were the strongest independent predictive factors. Knowing of gBRCA1/2 alterations meant healthcare management was modified in 86. 9% of cases . Germline testing for breast cancer patients, guided by current protocols, is essential for opti","cbCaikUy2CHBai44","https://ap.wps.com/l/cbCaikUy2CHBai44","pdf",2356105,13,"English","# Introduction\n# Study design and cohort\n# Germline variant prevalence and spectrum\n## Risk criteria and predictive factors\n## Histopathology associations\n## Clinical management outcomes\n# Keywords","[{\"question\":\"What patient group and time period were analyzed in this single-center study?\",\"answer\":\"Breast cancer patients with a known germline BRCA1/2 status were treated between 2019 and 2021, and the analysis used patient- and disease-specific medical data from a retrospective cohort.\"},{\"question\":\"How common were germline BRCA1/2 pathogenic/likely pathogenic variants?\",\"answer\":\"Germline variants were identified in 67 of 259 cases, including 61 pathogenic/likely pathogenic alterations and six BRCA1/2 variants of unknown significance (VUS).\"},{\"question\":\"Which factors most strongly predicted carrying a germline BRCA1/2 pathogenic/likely pathogenic variant?\",\"answer\":\"The study found that positive family history and triple-negative breast cancer were the strongest independent predictive factors.\"}]","Germline BRCA testing in routine clinical practice - a single-center experience | PDF",1790100091,33]