Breast Cancer : Basic and Clinical Research最新文献

{"title":"Circulating Tumor DNA in Breast Cancer: A Liquid Biopsy Revolution for Non-Invasive Genomic Profiling and Clinical Decision-Making.","authors":"Emmanuel Ifeanyi Obeagu, Chukwuma J Okafor","doi":"10.1177/11782234261485831","DOIUrl":"10.1177/11782234261485831","url":null,"abstract":"<p><p>Breast cancer remains the most frequently diagnosed cancer and a leading cause of cancer-related mortality among women worldwide, underscoring the need for accurate, minimally invasive biomarkers to support precision oncology. Conventional tissue biopsy remains the standard for molecular characterization but is limited by its invasiveness, inability to capture spatial and temporal tumor heterogeneity, and challenges in serial monitoring. Circulating tumor DNA (ctDNA), a tumor-derived fraction of cell-free DNA, has emerged as a promising liquid biopsy biomarker capable of providing real-time genomic information throughout disease progression. This narrative review examines recent advances in ctDNA biology, analytical technologies, clinical applications, current limitations, and future directions in breast cancer management. A structured literature search of PubMed/MEDLINE, Scopus, Embase, Web of Science, and Google Scholar identified relevant English-language publications from 2015 to 2026. Current evidence indicates that highly sensitive platforms, including digital PCR, BEAMing, and next-generation sequencing, can detect clinically actionable alterations in genes such as <i>PIK3CA</i>, <i>ESR1</i>, <i>TP53</i>, <i>ERBB2</i>, <i>AKT1</i>, and <i>BRCA1/2</i>. ctDNA has demonstrated particular utility in identifying minimal residual disease, monitoring therapeutic response, detecting emerging resistance mechanisms, and guiding targeted treatment selection in advanced breast cancer. However, applications in early cancer detection, population screening, and artificial intelligence-assisted clinical decision-making remain investigational. Widespread clinical implementation is constrained by low ctDNA abundance in early-stage disease, analytical variability, limited assay standardization, and cost considerations. Continued technological innovation, prospective multicenter validation, standardized testing protocols, and evidence-based clinical guidelines are essential to fully integrate ctDNA into routine precision breast cancer care.</p>","PeriodicalId":9163,"journal":{"name":"Breast Cancer : Basic and Clinical Research","volume":"20 ","pages":"11782234261485831"},"PeriodicalIF":2.2,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13542536/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148896643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characteristics of Breast Cancer Patients in Northeastern Iran: A Retrospective Cohort Study.","authors":"Narges Motalebi, Fatemeh Varshoee Tabrizi, Hojjat Khalili-Hezarjaribi","doi":"10.1177/11782234261481617","DOIUrl":"10.1177/11782234261481617","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer (BC) is a complex disease characterized by various demographic and clinicopathological factors. Understanding the prevalence and interrelationships of these factors across regions is essential for clarifying disease progression, improving prevention and early detection strategies.</p><p><strong>Design: </strong>This retrospective cohort study included 4043 female breast cancer patients treated at a radiotherapy & oncology center in northeastern Iran. Due to complete-case analysis, sample sizes varied across analyses.</p><p><strong>Objectives: </strong>To describe the frequency of demographic and selected clinicopathological characteristics and to investigate their interrelationships.</p><p><strong>Methods: </strong>Data preprocessing was performed to ensure accurate and effective presentation of the results. Univariate log-linear analyses were first conducted to assess crude associations between variables. Variables of interest were then entered into a multivariable log-linear model adjusted for potential confounders, including age at diagnosis, estrogen receptor (ER) status, and progesterone receptor (PR) status.</p><p><strong>Results: </strong>Patients residing in rural areas showed a significant associationwith a time to presentation longer than five months (OR = 1.48, 95% CI = 1.12-1.96), additionally educated patients significantly associated with shorter time to presentation (OR = 0.69, 95% CI = 0.58-0.83). No significant association was observed between age at diagnosis and time to presentation. Likewise, no association was found with various statuses for HR/HER2, or grade and time to presentation. Education, employment, place of residence and marital status showed no statistically significant associations with clinicopathological characteristics. Any observed association in unadjusted models could be explained by age at diagnosis, ER status, or time to presentation. Multiple tumors were associated with higher odds of ER/PR positivity (OR = 1.42, 95%CI = 1.01-1.99) and were negatively associated with age 40-60 compared to those under 40 (OR = 0.64, 95%CI = 0.44-0.93). Tumor laterality showed no statistically significant relationships with hormone receptor (HR) status, histological grade, employment, education, place of residence, or marital status.</p><p><strong>Conclusion: </strong>This study identified associations between several variables. However, the observed associations may be influenced by unmeasured factors. Further studies are needed to clarify the underlying mechanisms driving these relationships.</p>","PeriodicalId":9163,"journal":{"name":"Breast Cancer : Basic and Clinical Research","volume":"20 ","pages":"11782234261481617"},"PeriodicalIF":2.2,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13530457/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148872876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CK8/18 and Claudin Profile of Female Breast Cancers from Botswana.","authors":"Andrew Khulekani Ndlovu, Ishmael Kasvosve, Richard Naidoo, Dhiren Govender","doi":"10.1177/11782234261471677","DOIUrl":"10.1177/11782234261471677","url":null,"abstract":"<p><strong>Background: </strong>Globally, breast cancer mortality is rising particularly in transitioning countries where it is exacerbated by late diagnosis and poor diagnostic infrastructure. The dearth of data on the biology of breast tumours from under-studied populations compromise management of breast cancer patients resulting in poor patient outcomes. We conducted a study to determine the prevalence and impact of Claudin-low and CK8/18 in the Botswana female breast cancer cohort.</p><p><strong>Design: </strong>This laboratory experimentally retrospective cross-sectional study was carried out on archived formalin-fixed paraffin embedded (FFPE) tissue obtained from mastectomy specimens.</p><p><strong>Objectives: </strong>To determine the protein expression of CK8/18 and Claudin-3, Claudin-4 and Claudin-7 on breast mastectomies from Botswana female breast cancer cohort.</p><p><strong>Methods: </strong>CK8/18, Claudin 3, Claudin 4 and Claudin 7 were Immunohistochemical determined on 125 previously molecular classified Botswana female mastectomies. Statistical software STATA and SPSS were used to determine the relationship between CK8/18 & Claudin expression, clinicopathological variables, breast cancer molecular subtypes, CK5/6 and EGFR.</p><p><strong>Results: </strong>The prevalence of Claudin-low tumours in our cohort was 22% (27/125) had a significant relationship with histological subtype, p=0.002. Claudin 3 and Claudin 4 were highly expressed in 54% (67/125) and 53% (66/125) of breast tumours respectively. Claudin 3 and claudin 4 significantly correlated with molecular breast cancer subtypes, p= 0.001. Claudin 7 was expressed in 47% (59/125) of all breast tumours and had a significant relationship with CK5/6, p=0.029. CK8/18 was highly expressed by 64% (80/125) of mastectomies and correlates with; Tumour grade (p= 0.005) and breast cancer molecular subtypes (p=0.002).</p><p><strong>Conclusion: </strong>Diagnostic stratification of breast tumours should include Claudin-low tumours as they respond differently to therapy when compared to the intrinsic breast cancer molecular subtypes. There is also a significant CK8/18 signaling that warrants deployment of anti-CK8/18 antagonists where ER is poorly expressed.</p>","PeriodicalId":9163,"journal":{"name":"Breast Cancer : Basic and Clinical Research","volume":"20 ","pages":"11782234261471677"},"PeriodicalIF":2.2,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13525293/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148856927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expression of concern: \"Novel Melatonin, Estrogen, and Progesterone Hormone Therapy Demonstrates Anti-Cancer Actions in MCF-7 and MDA-MB-231 Breast Cancer Cells\".","authors":"","doi":"10.1177/11782234261466757","DOIUrl":"https://doi.org/10.1177/11782234261466757","url":null,"abstract":"","PeriodicalId":9163,"journal":{"name":"Breast Cancer : Basic and Clinical Research","volume":"20 ","pages":"11782234261466757"},"PeriodicalIF":2.2,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13396551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148583469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Robotic Assisted Versus Conventional Open Nipple Sparing Mastectomy With Implant Based Reconstruction for Breast Cancer: A Systematic Review of Oncologic Outcomes and Surgical Safety.","authors":"Puttiporn Naowaset","doi":"10.1177/11782234261470560","DOIUrl":"10.1177/11782234261470560","url":null,"abstract":"<p><p>Robotic assisted nipple sparing mastectomy (RNSM) has been increasingly adopted for therapeutic breast cancer surgery. However, comparative evidence regarding oncologic outcomes and surgical safety relative to conventional open nipple sparing mastectomy (CNSM) remains limited. A systematic review was conducted in accordance with PRISMA 2020 guidelines. MEDLINE, Embase, Scopus, Web of Science, and Cochrane CENTRAL were searched for studies reporting outcomes of RNSM and/or CNSM with implant based reconstruction for invasive breast cancer or ductal carcinoma in situ. Both comparative studies and single arm robotic series were included. Prophylactic mastectomies were excluded. Primary outcomes were locoregional recurrence and disease free survival (DFS). Clinical characteristics, follow up duration, and surgical complications were descriptively summarized. Of 63 identified studies, 7 met inclusion criteria, comprising comparative cohorts and single arm robotic series. Patients were predominantly middle aged, with early stage disease, small tumor size, hormone receptor positive tumors, and low prevalence of smoking and major comorbidities. Median or mean follow up ranged from approximately 6 to 36 months. Compared with CNSM, RNSM was associated with longer operative time but lower intraoperative blood loss. Overall complication rates ranged from 0% to approximately 30%, with infrequent major complications. Rates of nipple areolar complex necrosis, skin necrosis, infection, seroma, hematoma, and implant loss were comparable between approaches. Locoregional recurrence was uncommon, ranging from 0% to approximately 2%, and no meaningful differences in DFS were observed across comparative studies. Single arm robotic series demonstrated similarly low recurrence rates and acceptable safety profiles during available follow up. This systematic review suggests that RNSM with implant based reconstruction provides oncologic and surgical outcomes comparable to CNSM in selected breast cancer patients. While short to mid term recurrence and complication rates are low, longer follow up and prospective studies are required to confirm long term oncologic safety.</p>","PeriodicalId":9163,"journal":{"name":"Breast Cancer : Basic and Clinical Research","volume":"20 ","pages":"11782234261470560"},"PeriodicalIF":2.2,"publicationDate":"2026-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13379661/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148497193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation of Hormone Receptors and HER-2/Neu Status with Histologic Grades of Invasive Ductal Carcinoma of Breast among Women at Myungsung Comprehensive Specialized Hospital, Addis Ababa, Ethiopia.","authors":"Taye Jemberu Robele, Abirham Ayine Minayehu, Yonas Mulugeta Balcha, Henock Seyoum Tsegaye, Dagmawit Mesfin Tassew, Wajana Lako Labisso","doi":"10.1177/11782234261469431","DOIUrl":"10.1177/11782234261469431","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer is a heterogeneous disease in which hormone receptor and HER2/neu expression patterns are closely associated with tumor histologic grade, prognosis, and treatment response.</p><p><strong>Objective: </strong>To investigate the correlation of hormone receptors and HER-2/Neu status with histologic grades of invasive ductal carcinoma of the breast.</p><p><strong>Design: </strong>A facility-based retrospective cross-sectional study.</p><p><strong>Methods: </strong>A facility-based retrospective cross-sectional study was conducted. Clinical and socio-demographic data were retrieved from medical records. Histopathological and immunohistochemical analysis were done according to standard procedures. Statistical analyses were performed using IBM SPSS version 25. Spearman's rank correlation coefficient was determined to assess the association between the histological grades, the receptors and the HER-2/Neu status. <i>p</i>-values less than 0.05 are considered as statistically significant.</p><p><strong>Result: </strong>One hundred forty BC cases were included in this study. The mean age of study subjects was 47. The most frequent age group was distributed within 36 to 45 years, with 49 cases (35%). Most (N=61, 43.6%) cases were identified to be grade II, followed by grade I (N=47, (33.6%) and grade III (22.9%, N=32). Majority of the BC tissues showed high expression of ER (N=103, 73.6%) and PR (N=68, 48.6%) and HER2 (N=31, 22.1%). Some of ER⁺ cases (N=43, 41.2%) were observed to be histological grade 1 whereas 43.7% (N=45) ER⁺ cases were identified to be histological grade II. The remaining 15% (N=12) were histological grade III. There were 21 cases which were categorized as triple negative breast cancer (TNBC), representing 15% of all the cases studied. Spearman's rank correlation analysis demonstrated a significant inverse association between histologic grade and ER and PR positivity (<i>p</i><0.001), indicating that higher-grade tumors were less likely to express the receptors.</p><p><strong>Conclusion: </strong>The status of hormone receptors and HER-2/Neu in BC is similar to previous reports. An inverse correlation between histological grade and hormone receptor status is reported. Thus, more attention is needed from the health care authorities to improve the diagnostic capacity of pathology laboratories by widely availing access to immunohistochemistry services.</p>","PeriodicalId":9163,"journal":{"name":"Breast Cancer : Basic and Clinical Research","volume":"20 ","pages":"11782234261469431"},"PeriodicalIF":2.2,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13369417/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148454647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Self-Examination and Screening Barriers Associated With Breast Cancer Stages Among Patient Women in Baghdad, Iraq.","authors":"Ali Mawlood Ibrahim, Ahmed Khalid Abdulldah, Abderrazek Oueslati, Mohamed Gargouri","doi":"10.1177/11782234261458541","DOIUrl":"10.1177/11782234261458541","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer remains a major public health concern among Iraqi women, with limited awareness and practice of self-examination and screening contributing to late detection. This study aimed to evaluate the impact of self-examination and screening barriers on breast cancer detection and to examine the relationship between these barriers and cancer stages.</p><p><strong>Materials and methods: </strong>A cross-sectional survey was conducted in Baghdad, Iraq, among 325 women aged 18-63 years who had been diagnosed with breast cancer. The questionnaire assessed self-examination practices, screening experiences, and perceived barriers to early detection. Statistical analyses included chi-squared tests to determine associations between variables.</p><p><strong>Results: </strong>The findings revealed poor engagement in self-examination: 68.3% of participants never checked for lumps, 89.8% had not been trained to feel a lump, and 79.4% had not undergone screening before diagnosis (p=0.021, 0.001, and 0.002, respectively). Significant screening barriers were reported, including difficulties communicating with doctors (90.8%, p=0.014), limited decision-making power to undergo testing (81.2%, p=0.035), and reluctance to waste doctors' time (81.2%, p=0.029). A strong association was found between cancer stage and health insurance (χ²=47.646, p=0.001), and between fear of visiting doctors and cancer stage (χ²=6.961, p=0.031).</p><p><strong>Conclusions: </strong>Low awareness and barriers to screening significantly delay breast cancer detection. Enhancing women's knowledge and empowerment through sustained health education, accessible screening services, and targeted awareness campaigns is essential to promote early diagnosis and reduce the disease's health and social impact.</p>","PeriodicalId":9163,"journal":{"name":"Breast Cancer : Basic and Clinical Research","volume":"20 ","pages":"11782234261458541"},"PeriodicalIF":2.2,"publicationDate":"2026-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13263496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148249198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spiegelmer Aptamers: Innovative Approach in Breast Cancer.","authors":"Yalda Amiri Hezave, Rezvan Najafi, Razieh Amini, Ali Shojaeian","doi":"10.1177/11782234261456036","DOIUrl":"10.1177/11782234261456036","url":null,"abstract":"<p><p>Breast cancer remains one of the leading causes of cancer-related mortality among women worldwide, emphasizing the urgent need for improved diagnostic and therapeutic strategies. Aptamers which are synthetic oligonucleotides that specifically bind to target molecules, offer high affinity, low immunogenicity, and superior tumor penetration compared to antibodies. However, their clinical translation has been limited by instability in biological systems. Spiegelmers, a novel class of mirror-image aptamers composed of L-nucleotides, overcome this limitation through intrinsic nuclease resistance and prolonged serum half-life. These biostable molecules maintain high binding specificity to diverse targets, including proteins, peptides, and microRNAs, enabling applications in both diagnosis and therapy. In breast cancer, spiegelmers demonstrate strong potential for molecular imaging via MRI and PET when conjugated to fluorescent or radioactive labels, as well as for targeted drug delivery and photodynamic or photothermal therapy. Furthermore, spiegelmers can inhibit oncogenic microRNAs such as miR-155, offering new avenues for treating aggressive subtypes like triple-negative breast cancer. Despite challenges in synthesis and target range, spiegelmers represent a promising next-generation platform for theranostic applications that integrate precise diagnosis with personalized treatment, potentially revolutionizing breast cancer management.</p>","PeriodicalId":9163,"journal":{"name":"Breast Cancer : Basic and Clinical Research","volume":"20 ","pages":"11782234261456036"},"PeriodicalIF":2.2,"publicationDate":"2026-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13242607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148204081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bioimpedance Spectroscopy as a Triage-Support Tool for Breast Cancer Prioritization in a Low- and Middle-Income Country: A Commentary on Published Evidence From a Bioimpedance-Based Device.","authors":"Maria Andrea Negret, David Grajales, Valentina González, Sergio Lopez","doi":"10.1177/11782234261457498","DOIUrl":"10.1177/11782234261457498","url":null,"abstract":"<p><p>This Letter to the Editor discusses recently published evidence about a portable device that measures electrical properties in breast tissue. The device is not intended to diagnose breast cancer or replace mammography. Instead, it may help identify which women should be referred sooner for additional breast imaging when access to diagnostic services is limited.</p>","PeriodicalId":9163,"journal":{"name":"Breast Cancer : Basic and Clinical Research","volume":"20 ","pages":"11782234261457498"},"PeriodicalIF":2.2,"publicationDate":"2026-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13241608/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148197296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Low Frequency of Pathogenic Variants in BRCA1 Exons 11/20 and BRCA2 Exon 11 Suggests Divergent Mutational Hotspots in Sudanese Breast Cancer Patients: A Case-Control Study.","authors":"Hadia Abass Eltaib Ahmed, Babbiker Mohammed Taher Gorish, Ghanem Mohammed Mahjaf, Waha Ismail Yahia Abdelmula, Alsmawal A Elimam, Hisham N Altayb, Mona Dawood, Asma Al-Ameer M Zeen, Tibyan Abd Almajed Altaher, Emad Bakri Abass Ahmed, Rashid Eltayeb Abdalla","doi":"10.1177/11782234261455512","DOIUrl":"10.1177/11782234261455512","url":null,"abstract":"<p><strong>Background: </strong>Breast cancers represent a heterogeneous group of diseases; approximately 7% may be attributed to inherited pathogenic variants in <i>BRCA1</i> and <i>BRCA2</i>, with exon 11 of <i>BRCA1</i> representing the most frequently mutated region globally.</p><p><strong>Objectives: </strong>This study aimed to investigate the frequency and nature of sequence variants in <i>BRCA1</i> exons 11 and 20 and <i>BRCA2</i> exon 11 in a Sudanese cohort, and to determine whether these established mutational hotspots harbor recurrent pathogenic variants in this underrepresented population.</p><p><strong>Design: </strong>This was a case-control study conducted at Shendi's Tumor Treatment and Cancer Research Center in Northern Sudan.</p><p><strong>Methods: </strong>The study included fifty-two female breast cancer patients and thirty healthy female controls aged at least 18 years. Demographic data and blood samples were collected for genomic DNA extraction. Polymerase Chain Reaction (PCR) and Sanger sequencing were performed for <i>BRCA1</i> (exons 11 and 20) and <i>BRCA2</i> (exon 11). Variants were classified using ACMG/AMP criteria and analyzed using bioinformatics tools and SPSS.</p><p><strong>Results: </strong>Invasive ductal carcinoma was the predominant histological type, significantly associated with grade II tumors (P = 0.0001). Non-hereditary breast cancers were more prevalent (55.8%), with second-degree relatives most commonly affected in hereditary cases (69.6%). Three <i>BRCA1</i> sequence variants were identified, all classified as benign or likely benign. These variants were found at comparable frequencies in cases (13/52, 25.0%) and controls (8/30, 26.7%; P = 0.863). Variant presence was significantly associated with Jaalia ethnicity (P = 0.047) and observed exclusively in IDC cases, though these associations did not reach statistical significance for tumor characteristics.</p><p><strong>Conclusion: </strong>No pathogenic variants were identified in <i>BRCA1</i> exons 11 and 20 or <i>BRCA2</i> exon 11 in this Sudanese cohort. Given that <i>BRCA1</i> exon 11 constitutes approximately 60% of the coding sequence and harbors the majority of pathogenic variants in other African populations, these findings suggest that mutational hotspots may differ in this population. Expanded genomic studies encompassing complete coding regions are warranted.</p>","PeriodicalId":9163,"journal":{"name":"Breast Cancer : Basic and Clinical Research","volume":"20 ","pages":"11782234261455512"},"PeriodicalIF":2.2,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13227026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148155465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}