[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"doc-seo-352932-105":3,"detail-sidebar-cat-0-en-105":81,"doc-detail-352932-en":130},{"code":4,"msg":5,"data":6},0,"ok",{"site_id":7,"language":8,"slug":9,"title":10,"keywords":11,"description":12,"schema_data":13,"social_meta":74,"head_meta":76,"extra_data":78,"updated_unix":80},105,"en","exon-specific-targeted-analysis-of-brca1-and-brca2-mutations-in-bangladeshi-breast-cancer-patients","Exon-Specific Targeted Analysis of BRCA1 and BRCA2 Mutations in Bangladeshi Breast Cancer Patients","","Study examines whether targeted sequencing of selected BRCA1 and BRCA2 exons can support meaningful clinical interpretation for breast cancer risk in Bangladesh, where NGS testing is costly. Using cBioPortal, gnomAD, and dbSNP, exons were chosen for pathogenic-variation sites. Blood samples from 13 subjects (9 with breast cancer) were analyzed, and no germline pathogenic variations were detected in targeted regions. In silico results suggest missense mutations dominate. Full-length sequencing is recommended.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/exon-specific-targeted-analysis-of-brca1-and-brca2-mutations-in-bangladeshi-breast-cancer-patients/352932/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/exon-specific-targeted-analysis-of-brca1-and-brca2-mutations-in-bangladeshi-breast-cancer-patients/352932.png","ImageObject",300,407,{"name":42,"@type":43},"Đào","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-10-30","2026-09-22",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",10,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"What problem does the study address regarding BRCA testing in Bangladesh?","Question",{"text":63,"@type":64},"NGS-based BRCA1 and BRCA2 genetic testing is too expensive for most patients, limiting accessible hereditary and triple-negative breast cancer risk assessment.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"Which BRCA1 and BRCA2 exons were selected for targeted analysis?",{"text":68,"@type":64},"BRCA1 exons 4 and 16, and BRCA2 exons 18, 23, and 25 were selected for targeted sequencing.",{"name":70,"@type":61,"acceptedAnswer":71},"What were the main findings about pathogenic variations in the targeted regions?",{"text":72,"@type":64},"No germline pathogenic variations were found in the targeted regions for both BRCA1 and BRCA2 when compared with the reference sequence, despite successful sequencing of selected sites.","https://schema.org",{"og:url":32,"og:type":75,"og:title":10,"og:site_name":45,"og:description":12},"article",{"robots":77,"canonical":32},"index,follow",{"doc_id":79,"site_id":7},352932,1790274075,{"code":4,"msg":82,"data":83},"success",[84,88,92,96,101,106,110,115,120,123,126],{"id":22,"doc_module":4,"doc_module_name":25,"category_name":85,"show_sort_weight":86,"slug":87},"Story & Novel",90,"story-novel",{"id":26,"doc_module":4,"doc_module_name":25,"category_name":89,"show_sort_weight":90,"slug":91},"Literature",80,"literature",{"id":33,"doc_module":4,"doc_module_name":25,"category_name":93,"show_sort_weight":94,"slug":95},"Exam",70,"exam",{"id":97,"doc_module":4,"doc_module_name":25,"category_name":98,"show_sort_weight":99,"slug":100},5,"Comic",60,"comic",{"id":102,"doc_module":4,"doc_module_name":25,"category_name":103,"show_sort_weight":104,"slug":105},6,"Technology",50,"technology",{"id":107,"doc_module":4,"doc_module_name":25,"category_name":29,"show_sort_weight":108,"slug":109},7,40,"healthcare",{"id":111,"doc_module":4,"doc_module_name":25,"category_name":112,"show_sort_weight":113,"slug":114},8,"Research & Report",30,"research-report",{"id":116,"doc_module":4,"doc_module_name":25,"category_name":117,"show_sort_weight":118,"slug":119},9,"Religion & Spirituality",20,"religion-spirituality",{"id":118,"doc_module":4,"doc_module_name":25,"category_name":121,"show_sort_weight":118,"slug":122},"World Cup","world-cup",{"id":55,"doc_module":4,"doc_module_name":25,"category_name":124,"show_sort_weight":55,"slug":125},"Lifestyle","lifestyle",{"id":127,"doc_module":4,"doc_module_name":25,"category_name":128,"show_sort_weight":97,"slug":129},19,"General","general",{"code":4,"msg":82,"data":131},{"doc_id":79,"user_id":132,"nickname":42,"user_avatar":133,"doc_module":4,"category_id":107,"category_name":29,"doc_title":10,"doc_description":12,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":55,"is_deleted":4,"is_public":22,"is_downloadable":22,"audit_status":22,"page_count":116,"language":139,"language_code":8,"site_id":7,"html_lang":8,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":12,"update_tm":143,"read_time":144},1374402968488,"https://ap-avatar.wpscdn.com/davatar_29158cc5080c5b710cf443261637dec0","Exon-Specific Targeted Analysis of BRCA1 and BRCA2 Mutations in Bangladeshi Breast Cancer Patients  \nShuvra Dutta 1, S. M. Mahbubur Rashid 1, Shihabul Islam2, SK Farid Ahmed2 and Mustak Ibn Ayub 1  \nCancer Informatics Volume 25: 1–9 © The Author(s) 2026 Article reuse guidelines:  \n[sagepub.com/journals-permissions](sagepub.com/journals-permissions)[ ](sagepub.com/journals-permissions)[DOI: 10.1177/11769351261445625](DOI: 10.1177/11769351261445625)[ ](DOI: 10.1177/11769351261445625)[journals.sagepub.com/home/cix](journals.sagepub.com/home/cix)  \nAbstract  \nBackground: Breast cancer (BC) is a leading cause of death among women. Pathogenic variations (PVs) in BRCA1 and BRCA2 genes increase the risk of hereditary and Triple-negative breast cancer (TNBC). Despite its great importance, NGS-based genetic testing of BRCA1 and BRCA2 in Bangladesh is out of reach of most patients because of its high cost. Objective: To overcome this challenge, this study explored whole genome databases (cBioPortal, gnomAD, dbSNP) to investigate whether sequencing selected exons in BRCA1 and BRCA2 genes may provide meaningful clinical interpretation of BC risk.  \nMethods: Exons 4 and 16 of BRCA1 and exons 18, 23 and 25 of BRCA2 were selected for targeted analysis. According to the aforementioned databases, 10 and 21 mutations are pathogenic in the targeted regions of BRCA1 and BRCA2 respectively. To evaluate the presence or absence of these germline pathogenic variations (PV) in Bangladeshi BC patients, we collected blood samples from 13 subjects, among whom, 9 were diagnosed with BC, and 4 without cancerous tumors but with family history and breast lump.  \nResults: Analysis of 13 patient samples revealed no PVs in the targeted regions. Within the BRCA1 gene, 5 of the 10 sites, and within the BRCA2 gene, 10 of the 21 sites associated with pathogenic variations were successfully sequenced and clearly interpretable. However, comparison with the reference sequence confirmed the absence of PVs in the targeted regions of both BRCA1 and BRCA2. In silico analysis indicated that missense mutations are the predominant typeof variation in both genes.  \nConclusion: This study, although limited by sample size, demonstrates that even exons enriched for pathogenic mutations may not be sufficiently representative for detecting PVs through targeted sequencing of BRCA1 and BRCA2. Comprehensive sequencing of the full lengths of BRCA1 and BRCA2 may be necessary to ensure confident clinical interpretation in BC patients.  \nKeywords  \nbreast cancer, BRCA1 and BRCA2 genes, cBioPortal, PVS, sanger sequencing  \nReceived: 11 November 2025; accepted: 8 April 2026  \nIntroduction  \nBreast cancer (BC) remains a formidable health concern in the female population around the world. Bangladesh is no exception with an incidence rate of ~22.5 per 100 000 females and a prevalence rate of ~19.3 per 100 000 females. 1,2 Lack of affordable screening tests, ignorance about the importance of screening and late diagnosis play a crucial role in the increasing complication and mortality rate of Bangladeshi BC patients.3-5 Although different screening and diagnostic tests are available, early detection of small tumor masses is still difficult that leads to false positive or negative results.5-11 Molecular diagnostic tests for PV screening in BRCA1 and BRCA2 genes have the  \npotential to circumvent all of these downsides, but are still not affordable as a screening test for regular use in clinical practice.12  \n1 Department of Genetic Engineering and Biotechnology, University of Dhaka, Bangladesh  \n2Department of Genetic Engineering and Biotechnology, University of Rajshahi, Bangladesh  \nCorresponding author:  \nMustak Ibn Ayub, Department of Genetic Engineering and Biotechnology, University of Dhaka, Dhaka 1000, Bangladesh. [Email: miayub@du.ac.bd](Email: miayub@du.ac.bd)  \nCreative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCo","cbCail4KA7DmEN3W","https://ap.wps.com/l/cbCail4KA7DmEN3W","pdf",1206132,"English","# Abstract\n## Background\n## Methods\n## Results\n## Conclusion\n# Introduction\n## Breast cancer burden in Bangladesh\n## Role of BRCA1/BRCA2 and genetic testing","[{\"question\":\"What problem does the study address regarding BRCA testing in Bangladesh?\",\"answer\":\"NGS-based BRCA1 and BRCA2 genetic testing is too expensive for most patients, limiting accessible hereditary and triple-negative breast cancer risk assessment.\"},{\"question\":\"Which BRCA1 and BRCA2 exons were selected for targeted analysis?\",\"answer\":\"BRCA1 exons 4 and 16, and BRCA2 exons 18, 23, and 25 were selected for targeted sequencing.\"},{\"question\":\"What were the main findings about pathogenic variations in the targeted regions?\",\"answer\":\"No germline pathogenic variations were found in the targeted regions for both BRCA1 and BRCA2 when compared with the reference sequence, despite successful sequencing of selected sites.\"}]","Exon-Specific Targeted Analysis of BRCA1 and BRCA2 Mutations in Bangladeshi Breast Cancer Patients | PDF",1790102037,23]