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 PIK3CA , ESR1 , TP53 , ERBB2 , AKT1 , and BRCA1/2 . 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.
Background 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. Design 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. Objectives To describe the frequency of demographic and selected clinicopathological characteristics and to investigate their interrelationships. Methods 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. Results 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. Conclusion 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.
Background 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. Design This laboratory experimentally retrospective cross-sectional study was carried out on archived formalin-fixed paraffin embedded (FFPE) tissue obtained from mastectomy specimens. Objectives 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. Methods 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. Results 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). Conclusion 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.
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.
Background 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. Objective To investigate the correlation of hormone receptors and HER-2/Neu status with histologic grades of invasive ductal carcinoma of the breast. Design A facility-based retrospective cross-sectional study. Methods 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. p -values less than 0.05 are considered as statistically significant. Result 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 ( p <0.001), indicating that higher-grade tumors were less likely to express the receptors. Conclusion 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.
Background 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. Materials and Methods 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. Results 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 (χ 2 =47.646, p=0.001), and between fear of visiting doctors and cancer stage (χ 2 =6.961, p=0.031). Conclusions 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.
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.
Plain Language Summary 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.
Background Breast cancers represent a heterogeneous group of diseases; approximately 7% may be attributed to inherited pathogenic variants in BRCA1 and BRCA2 , with exon 11 of BRCA1 representing the most frequently mutated region globally. Objectives This study aimed to investigate the frequency and nature of sequence variants in BRCA1 exons 11 and 20 and BRCA2 exon 11 in a Sudanese cohort, and to determine whether these established mutational hotspots harbor recurrent pathogenic variants in this underrepresented population. Design This was a case-control study conducted at Shendi’s Tumor Treatment and Cancer Research Center in Northern Sudan. Methods 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 BRCA1 (exons 11 and 20) and BRCA2 (exon 11). Variants were classified using ACMG/AMP criteria and analyzed using bioinformatics tools and SPSS. Results 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 BRCA1 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. Conclusion No pathogenic variants were identified in BRCA1 exons 11 and 20 or BRCA2 exon 11 in this Sudanese cohort. Given that BRCA1 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.
Breast cancer (BC) is a serious public health concern in sub-Saharan Africa, with Ghana incurring a staggering 5026 cases and 2369 deaths in 2022. The insufficiency of accurate epidemiological information, limited access to health care, late diagnoses, and insufficient screening procedures hinder policy implementation. While numerous treatment methods, such as chemotherapy, radiation, and immunotherapy, exist, patients with BC respond differently. The variation in response can be accounted for by a combination of genetic, environmental, and socioeconomic factors specific to the Ghanaian population. This review examines the unique molecular and immunologic characteristics of BC in Ghana and their implications for therapeutic effectiveness in personalized treatment. Precision medicine is suggested as imperative in the design of biomarker-guided therapies to consider the BC molecular heterogeneity that is prevalent among Ghanaian patients. However, there is still a challenge of late-stage diagnosis due to insufficient diagnostic infrastructure. Early detection efforts through investment in next-generation sequencing and health care training are imperative. Besides, immune checkpoint inhibitors show promising therapeutic utility in triple-negative breast cancer (TNBC), and clinical trials in the Ghanaian population should be considered. This article emphasizes the need for community education to counteract misconceptions and ensure timely health care-seeking behaviours. To minimize mortality rates and improve patient care for BC in Ghana, a concerted approach through research funding, policy reform, and collaborative stakeholder engagement is imperative, in addition to advancements in diagnostics and therapeutics in the local context.
Ulcerative giant breast cancer (UGBC) presents management challenges including uncontrolled bleeding, infection, and rapid tumor progression, which often culminate in life-threatening complications. Traditional spatially fractionated radiotherapy (SFRT) like lattice radiotherapy (LRT) offers potential for palliating bulky tumors, although its application in UGBC remains limited. We report a 51-year-old woman with a hormone receptor-positive, human epidermal growth factor receptor 2 (HER2)-negative stage IIIC UGBC (20.5 cm × 6.98 × 18.17 cm ulcerative lesion). Treatment consisted of modified lattice radiotherapy (mLRT: 15 Gy×3 fractions), followed by volumetric-modulated arc therapy (VMAT: 36 Gy/20 fractions) and systemic therapy (exemestane, capecitabine, CDK4/6 inhibitor). Rapid hemostasis was achieved within 5 days, with 39.7% tumor reduction at week 4 and progressive wound healing. At 3-month follow-up after the completion of mLRT and prior to definitive radiotherapy, the tumor had achieved a 61.8% volume reduction, with only minimal residual disease remaining. The radiation-induced skin reaction gradually alleviated with symptomatic treatment. This case demonstrates mLRT’s efficacy in achieving rapid hemostasis and significant tumor regression for chemotherapy-refusing UGBC patients. The combined approach of mLRT, VMAT, and systemic therapy provides a promising multidisciplinary strategy for symptom control and quality-of-life improvement. Further prospective studies are needed to validate these findings.
Background: Accumulating evidence has demonstrated that epithelial-mesenchymal transition (EMT) plays a critical role in breast cancer (BRCA) initiation, invasion, metastasis, and prognosis. Objectives: To develop and validate a comprehensive EMT-related gene signature for robust prognosis prediction in BRCA. Design: Retrospective multi-cohort study. Methods: We obtained 1223 BRCA samples from The Cancer Genome Atlas (TCGA) and 1184 EMT-related genes from the dbEMT2.0 public database. Prognostic genes were selected via univariate Cox and LASSO regression analyses to construct a risk score model, which was subsequently validated in independent internal cohort (TCGA) and external cohorts (UCSC and GEO). Finally, a nomogram integrating the risk score with clinical parameters was established. Results: A 15-gene EMT signature was identified and used to stratify patients into high- and low-risk groups. The high-risk group exhibited significantly poorer overall survival in the TCGA cohort ( P < .05), a finding consistently validated across 4 independent datasets (all P < .05). The risk score served as an independent prognostic factor (hazard ratio = 2.386, P < .001). The integrative nomogram, incorporating the risk score, age, and N and M stages, demonstrated moderate accuracy for survival prediction (C-index = 0.711). Conclusions: We developed and validated a novel 15-gene EMT signature and a corresponding nomogram, which provide a potential tool for prognostic stratification in BRCA patients.
Background: Adenomyoepithelioma (AME) of the breast is a rare biphasic neoplasm characterized by proliferation of epithelial and myoepithelial cells. Although most AMEs demonstrate indolent behavior, malignant transformation has been reported, and diagnostic uncertainty often complicates clinical management. Given the rarity of AME, most data are limited to case reports and small series, leaving optimal management undefined. Objectives: To describe the clinical presentation, imaging characteristics, histopathologic features, and outcomes of patients with breast AME. Design: Retrospective single-institution case series. Methods: We retrospectively reviewed 15 patients diagnosed with breast AME between 2010 and 2023. Demographic, clinical, imaging, core needle biopsy (CNB) findings, surgical pathology, and outcomes data were analyzed. Results: The median age at diagnosis was 56 years. More than half of the patients (53.3%) were asymptomatic at presentation. Mammography most frequently demonstrated discrete ovoid masses (61.5%), and ultrasound most often showed hypoechoic lesions (66.7%) with lobulated margins (50%). Core needle biopsy identified benign AME in 38.4% of cases, while 61.5% yielded indeterminate findings with AME included in the differential. Five patients underwent CNB alone without surgical excision. Of the 9 patients who underwent both CNB and excision, 6 (66.7%) had AME on final pathology, whereas 3 were upgraded (2 invasive carcinoma, 1 atypical ductal hyperplasia). Of the 3 cases with cytologic atypia on CNB, 1 was upgraded to invasive carcinoma. Over a median follow-up of 10 months, no recurrences, metastases, or breast cancer-related deaths were observed. Conclusions: Breast AME generally follows a benign clinical course, but diagnostic challenges exist due to histologic heterogeneity. Core needle biopsy features such as cytologic atypia may indicate higher malignancy risk. These findings highlight the ongoing dilemma of when observation is sufficient versus when surgical excision is warranted. Our results add to the limited body of evidence and align with prior reports, underscoring the need for larger, multicenter studies with longer follow-up to clarify long-term outcomes and optimal management strategies.
Background: Zeste White 10 (ZW10) is a key component of the spindle assembly checkpoint (SAC) that maintains chromosomal stability during mitosis. Dysregulation of ZW10 can cause chromosomal instability and aneuploidy-hallmarks of many cancers, including breast cancer, particularly triple-negative breast cancer (TNBC). However, its prognostic and therapeutic relevance in breast cancer remains unclear. Objectives: This study aimed to systematically investigate the expression pattern, prognostic significance, mutational profile, and immune associations of ZW10 in breast cancer using integrated omics data. Design: A computational, cross-cohort bioinformatics analysis combining transcriptomic, proteomic, mutational, and clinical data from publicly available databases. Methods: The ZW10 expression levels were assessed across normal and cancerous tissues using The Cancer Genome Atlas (TCGA), Genotype-Tissue Expression (GTEx), and the Human Protein Atlas data sets. Immune infiltration correlations were analyzed using TIMER2.0, Gene Set Cancer Analysis (GSCA), and TNMplot. Survival analyses were performed using Kaplan-Meier Plotter and TCGA clinical data sets. Protein-protein interaction (PPI) and functional enrichment analyses were conducted using STRING and EnrichR, and mutation data were retrieved from COSMIC and cBioPortal. Results: The ZW10 expression was markedly upregulated across multiple cancers, with the highest expression in TNBC. Elevated ZW10 levels correlated with immune cell infiltration and adverse overall survival, while lower ZW10 expression predicted improved relapse-free survival. Protein-protein interaction and enrichment analyses revealed ZW10's close interaction with key mitotic regulators and its involvement in spindle checkpoint and vesicular trafficking pathways. Mutation analysis identified predominant A > G and A > T substitutions and frequent gene amplifications across malignancies. Conclusion: The ZW10 acts as a potential prognostic biomarker and therapeutic target in breast cancer, particularly TNBC, through its dual roles in mitotic regulation and immune modulation. Further experimental validation is warranted to confirm its mechanistic role and therapeutic potential.
Background: Breast cancer remains a major global health challenge, as it is the most commonly diagnosed malignancy worldwide, particularly among women. Germline variants in cancer-predisposing genes play a critical role in breast cancers with familial origin. Objectives: To identify genetic variants in cancer-predisposing genes among breast cancer patients and individuals at risk in a selected cohort from two imaging facilities in the Central Province of Sri Lanka. Design: A genetic association study involving breast cancer confirmed patients, at-risk individuals, and healthy controls. Methods: Blood samples were collected from consenting patients, and genomic DNA was extracted from the samples and subjected to Next Generation Sequencing and Sanger sequencing. The inherited predisposition to breast cancer was evaluated to find genes associated with breast cancer using the Ion Torrent PGM platform followed by bioinformatics analysis. Results: Variants were detected in several high- and moderate-penetrance genes, including BRCA1 [c.3113A>G; p.Glu1038Gly], BRCA2 [c.6509A>G; p.Lys2170Arg; c.7879A>T; p.Ile2627Phe; c.5574_5577delAATT; p.Ile1859LysfsTer3], PALB2 [c.1592delT; p.Leu531fs], BRIP1 [c.2400C>T;], and in MRE11A [c.508C>A; p.Gln170Lys] genes. Among these, BRCA2 mutations and the PALB2 frameshift deletion were classified as pathogenic germline variants. The benign BRCA1 variant [c.3113A>G; p.Glu1038Gly] was the most frequent variant observed. Common missense variants included BRCA1 [c.3113A>G; p.Glu1038Gly; c.3548A>G; p.Lys1183Arg; c.2612C>T; p.Pro871Leu], BRCA2 [c.7397T>C; p.Val2466Ala], and ATM [c.5948A>G; p.Asn1983Ser], while frequently detected intronic variants were found in MUTYH [c.1468-40C>G;], PALB2 [c.3114-51T>A;], and NF1 [c.288+41G>A; c.328+37C>G;]. Pathogenic variants occurred in fewer than 10% of individuals in any group, and other variants were identified in different frequencies. Conclusion: Evaluation of germline variants in this cohort revealed the presence of pathogenic mutations and other variants with benign or uncertain significance. Three pathogenic variants, BRCA2 [c.6509A>G; c.7879A>T; c.5574_5577delAATT] and PALB2 [c.1592delT], were identified in high-risk genes important for breast cancer prediction. Identification of population-based variants may improve breast cancer screening and management in Sri Lanka.
Background:Breast cancer is the most common malignancy among Saudi women, and early detection remains a critical factor for improving survival outcomes. Despite ongoing awareness initiatives, screening uptake remains low, suggesting that perceptions and beliefs may influence women's engagement in preventive behaviors. Objectives:To assess perceptions of breast cancer among women attending Johns Hopkins Aramco Healthcare (JHAH) facilities using the Breast Cancer Perception Scale (BPS) and to examine associations between perception domains and sociodemographic as well as screening-related factors. Design:A cross-sectional, questionnaire-based study was conducted between October 2024 and March 2025. Methods:Eligible female patients aged 20 years or older with active MyChart accounts were invited to participate electronically. Perception was measured using the validated 24-item BPS, which comprises 6 subscales. Due to non-normal data distribution, non-parametric tests (Kruskal-Wallis and Mann-Whitney U) were employed, with a Bonferroni correction for multiple comparisons. Results:Participants had a mean age of 37.5 ± 8.3 years, and 61.4% held a university degree. Postgraduate education was significantly associated with higher scores for Perceived Knowledge, Treatment Belief, Health Check, and Risk, as well as lower stigma (P < .001). Employed women demonstrated greater Perceived Knowledge (P < .001). Those with a family history of breast cancer reported higher Fear and Risk perceptions (P < .001). Prior screening experience (clinical breast examination or Mammography) correlated with higher Knowledge and Health Check perceptions and lower stigma (P < .001). Overall, 51.7% of participants reported adequate knowledge, while 64% to 70% expressed moderate to high levels of fear. Conclusion:Perceptions of breast cancer among Saudi women are shaped by educational level, employment status, family history, and screening experience. Targeted educational interventions that address knowledge gaps and cultural stigmas are essential for enhancing participation in screening and early detection practices.
Background: Human epidermal growth factor receptor 2 (HER2) is an important predictive and prognostic biomarker in breast cancer. Immunohistochemistry (IHC) is the preferred initial test due to its cost-effectiveness and simplicity. While fluorescence in situ hybridization (FISH) is the traditional gold standard test for HER2 gene amplification, DISH has emerged as an accepted alternative that allows evaluation under a standard light microscope. Objectives: To evaluate agreement between HER2 IHC (2+/3+) and DISH in node-positive primary breast cancers and compare findings with published IHC and FISH data. Design: Retrospective single-center cohort study using nationwide referral specimens. Methods: Cases of pathologically confirmed lymph node metastasized invasive breast carcinoma with HER2 IHC scores of 2+ and 3+ were retrieved. Interpretation of HER2 IHC was performed using the 2023 ASCO/CAP guideline. HER2 DISH was conducted and evaluated by the HER2/CEP17 signal ratio on primary tumors first, and on metastasized lymph nodes in cases of persistent technical failure. Results: Among 1,307 breast cancers, DISH detected HER2 amplification in 933 cases, including 92% (760) of IHC 3+ cases and 36% (173) of IHC 2+ cases. Seven cases with persistent technical failure on primary tumors were resolved when switching to lymph node specimens. Comparison with the meta-analysis data of IHC and FISH showed no significant differences, indicating that DISH is a reliable alternative to FISH. Conclusion: Our study demonstrates a high concordant rate between HER2 IHC and DISH in the IHC 3+ group and a low positive rate in the IHC 2+ group. We found no significant difference in the positive rates of HER2 IHC to DISH when compared with prior data of IHC to FISH, reaffirming the use of HER2 DISH as an effective and more accessible alternative to FISH in HER2 2+/3+ breast cancer.
Background: Although BRCA1 and BRCA2 mutations are known to be associated with different breast cancer (BC) subtypes, real-world evidence on how these genetic differences influence tumor behavior and treatment decisions remains limited, particularly in Japanese patients. With the recent expansion of PARP inhibitor indications in Japan, BRCA testing has become increasingly routine, highlighting the need for clinical data tailored to local populations. Objectives: To compare clinicopathological features, recurrence patterns, and surgical choices between BRCA1 - and BRCA2 -associated BC in Japanese patients, with a focus on ER-positive tumors. Design: A single-institution retrospective cohort study. Methods: We retrospectively reviewed 417 patients who underwent BRCA1/2 genetic testing at a single Japanese institution between April 2020 and November 2023. Of these, 38 patients (12 BRCA1 , 26 BRCA2 ) had pathogenic variants. We compared clinicopathological features, recurrence patterns, and choices of risk-reducing surgery between BRCA1 and BRCA2 carriers. Results: BRCA1 -associated cancers were predominantly triple-negative (75%) and diagnosed at earlier stages (T1 in 83.3%), while BRCA2 -associated cancers were mainly ER-positive (69.2%) and more likely to present with multiple lymph node metastases (⩾2 nodes in 42.3%). Although Ki-67 levels were higher in BRCA1 tumors, this was largely subtype-dependent. Notably, ER-positive BRCA tumors showed a trend toward higher recurrence. Preferences for prophylactic surgery also varied by mutation type. Conclusion: This single-institution study highlights clinically meaningful differences between BRCA1 - and BRCA2 -associated BC in Japanese patients. BRCA2 cancers tended to present with more advanced features, while BRCA1 cancers were more often detected at earlier stage. These findings underscore the value of BRCA testing not only for PARP inhibitor eligibility but also for subtype-specific risk assessment and individualized preventive strategies.
Background: Mammography use and its predictors among older women require further study. Objectives: Mammography use and its relationship to demographic characteristics, health care access, and breast cancer risk factors in women ages 60 to 85 in the United States were examined. Design: US Health and Retirement Study 2014 dataset was examined. Methods: A descriptive study using secondary data was analyzed for use of mammography screening and its predictors in women ages 60 to 85 in United States. Results: In total, 5177 (73.4%) of respondents reported mammography use. Mammography use was higher among older women who were married, nonsmokers, alcohol drinkers, engaged in vigorous exercise, and had dental visits. Conclusion: Women ages 60+ in the US HRS dataset revealed continued mammography screening into later years (73.4%), and mammography use was higher among older women who had healthy lifestyles and habits. Insights for health care providers and systems are to recommend mammography use for women age 60 to 85 years are provided. This US study can be used to inform future research and policy regarding breast cancer screening among older women.
Background:Breast cancer is the most prevalent cancer and second leading cause of cancer-related mortality among Canadian women. Most of cases belong to the HR+/HER2- subtype, representing approximately two-thirds of all instances. Objectives:This real-world evidence study aims to comprehensively analyze the treatment pattern, and clinical outcomes of Canadian patients diagnosed with early-stage HR+/HER2- breast cancer. Design:This retrospective, longitudinal cohort study involved 541 patients enrolled in the pan-Canadian cancer patient registry PMT (Personalize My Treatment). Methods:The cohort included patients with newly diagnosed or recurrent stage II or III HR+/HER2- breast cancer between January 1st, 1992, and May 31st, 2022. Summary statistic to describe treatment pattern and Kaplan Meir analysis for clinical outcome were used. Results:In the adjuvant setting, our study found that ET was administered to 75.6% of the cohort, with a significant preference for combining ET with cytotoxic agents and, particularly in stage III patients. In addition, neoadjuvant therapy, primarily using cytotoxic agents, was higher in stage III patients, and those receiving neoadjuvant therapy were more likely to either continue with ET as adjuvant treatment. The median duration of adjuvant ET was 4.5 years. In the adjuvant patient population, recurrence rates progressively increased over time from 13.2% after 2 years, 21.4% after 3 years, 30.3% after 5 years, and peaking at 58.4% after 10 years. Median time to recurrence for the patient population on ET was 7.76 years. OS rate for patients on ET was 94.6% at 5 years and 78.3% at 10 years. Conclusions:This study highlights the high unmet need in stage II and stage III breast cancer, with 1 patient out of 3 recurring after 5 years, and more than half recurring after 10 years despite adjuvant treatment with ET alone. This highlights the need for more effective and tolerable treatment options to address disease recurrence in both the short and long term for eBC HR+/HER2- patients in Canada.
