Breast Journal最新文献

Female breast cancer is the most common and the fifth deadliest cancer worldwide. It is influenced by a combination of genetic, hormonal, and environmental factors. The excision repair cross-complementation group 3 gene (ERCC3) has recently been identified as a breast cancer susceptibility gene in various cohorts of different geographical and ethnic origin. To explore the role of ERCC3 mutations in breast cancer development and pathological diagnosis, genetic analysis was conducted in 291 patients and 291 controls from mainland China. Bioinformatic analysis and immunohistochemistry (IHC) were performed. A novel ERCC3 mutation p.Y116X was identified in a breast cancer family, while no frequency bias for the genotype and allele of rs754010782 and rs371627165 was observed (all P > 0.05). Bioinformatic analysis revealed that ERCC3 expression was negatively associated with estrogen receptor (ER), progesterone receptor (PR), nontriple-negative status, and nodal status of breast cancers. ERCC3 amplifications and deep deletions primarily occurred in breast invasive cancer not otherwise specified (NOS) and metaplastic breast cancer, respectively. The decreased ERCC3 expression in tumor tissues of patient with p.Y116X mutation was found by IHC. The ERCC3 mutation p.Y116X may increase breast cancer risk in the Han-Chinese population. ERCC3 exhibits potential as a biomarker for the pathological diagnosis of breast cancer.

Breast desmoid tumour is a rare type of benign breast disease that presents like malignancy. Current guidelines are based on limited evidence derived from case reports and small case series and recommend resection with microscopically-negative margin (R0). There is a high risk of recurrence despite negative surgical margins. A review of the published cases of breast desmoid since 2000 was conducted using Medline and Embase to descriptively analyse the clinical presentation, diagnosis, treatment, and outcomes of this rare disease. After screening, we identified 46 patients from 39 articles. Most cases did not have risk factors, but 17/46 (37%) had prior procedures on the ipsilateral breast. Mammography was able to detect 65% of the cases, ultrasound detected 74%, and both CT and MRI detected all cases when used. Preoperative diagnosis was best performed using core needle biopsy showing typical histology and positive beta-catenin staining. 42/46 cases underwent definitive surgical management, with 8 cases of recurrence. Recurrence occurred within 3 years of the initial surgery. Median time of recurrence was 8 months, and the median follow-up of the recurrence-free patients was 12 months. There were no predictive factors identified for recurrence. There were 7 cases treated with a nonsurgical modality, with 3 showing at least a partial response.

Introduction. Triple-negative breast cancer (TNBC) is a subgroup of breast cancer characterized by the absence of estrogen and the human epidermal 2 receptor and also a lack of targeted therapy options. Chemotherapy has so far been the only approved treatment option, and patients with metastatic cancer have a dismal prognosis with a median overall survival (OS) of approximately 14 months. Identification of druggable targets for metastatic TNBC is therefore of special interest. Methods. A systematic search was performed, to review the existing evidence on targeted therapies in metastatic TNBC. Results. A total of 37 phase 2/3 studies were identified, evaluating 29 different targeted agents. In this review, results on progression free survival (PFS) and OS are presented. Conclusion. In most of the studies included, no improvement was observed for neither PFS nor OS; however, a few studies did show improvement with targeted agents and have led to new treatment options in subgroups of patients. The antibody drug conjugate, sacituzumab govitecan, demonstrated superior PFS and OS in comparison to chemotherapy. Immunotherapy with checkpoint inhibitors such as atezolizumab and pembrolizumab is now recommended as a first-line treatment option for patients with expression a PD-L1 positive tumor. Finally, the poly adenosine diphosphate-ribose polymerase (PARP) inhibitors talazoparib and olaparib are recommended, as first-line treatment options in patients with metastatic breast cancer and a germline BRCA mutation, but an immune checkpoint inhibitor should be considered for the subset of these patients who are PD-L1 positive.

Introduction. Breast cancer management is complex, requiring personalised care from multidisciplinary teams. Research shows that there is unwarranted clinical variation in mastectomy rates between rural and metropolitan patients; that is, variation in treatment which cannot be explained by disease progression or medical necessity. This study aims to determine the clinical and nonclinical factors contributing to any unwarranted variation in breast cancer management in rural patients and to evaluate how these factors and variations relate to patient outcomes. Methods. Comprehensive data from patients who had primary breast cancer surgery from 2010 to 2014 in either a rural or metropolitan location in a single local health district was analysed (n = 686). Records were subset into two rurality groupings based on the postcode in which the patient resided, and the Modified Monash Model (MMM), an Australian system for classifying rurality. Statistical analysis was used to compare rural and metropolitan cohorts on treatments, patient characteristics, timeliness, and outcomes (recurrence and survival). Results. Rural patients had higher mastectomy rates than metropolitan patients (57% vs. 34%, p < 0.001), despite a lack of difference in clinical or demographic factors accounting for such variation. The length of time between treatment pathway stages was consistently longer amongst rural patients (p < 0.01). Rural women also had worse survival outcomes, especially amongst HER2-positive patients who had significantly lower survival (5-year 74% vs 82%; 10-year 49% vs 71%, p < 0.05) than metropolitan HER2-positive patients. Conclusion. This study reveals clinical disparities among rural breast cancer patients, that cannot be explained by demographic and clinical factors alone. Rural patients face lower rates of breast-conserving surgery and treatment delays, attributable to systemic barriers such as limited access to specialist care, high travel costs, and suboptimal care coordination. These findings have important implications for improving equity and collaboration in delivering person-centred breast cancer care.

Background. The omission of sentinel lymph node biopsy in low-risk elderly breast cancer patients has been introduced in several guidelines. Despite evidence to support its safety, this recommendation has not been implemented by many clinicians. We have examined two aspects of this recommendation that may explain why sentinel lymph node biopsy continues to be performed in most of these patients. Firstly, we quantified the proportion of patients diagnosed with axillary metastases postoperatively. Secondly, we examined adherence to antihormonal therapy in the same group of patients. Methods. In this single-centre retrospective cohort study, the study population comprised 98 patients with breast cancer. Patients were aged ≥70 years and diagnosed with hormone receptor positive breast cancers less than 20 mm (T1). All patients underwent surgery and were subsequently prescribed five years of adjuvant antihormonal treatment. Results. Axillary lymph node metastases, as confirmed by the postoperative histology report, were seen in 36.3%. Nonadherence was seen in 33.7% of the patients. Primary nonadherence, that is, patients that never collect their first or subsequent prescriptions at the pharmacy, comprised 11.2% of the total study population. Conclusion. The high proportion of axillary metastases demonstrated suggests that clinical examination of the axilla alone is not sufficient in the preoperative assessment of the axilla. The less-than-optimal adherence rates show that adherence in these patients cannot be taken for granted. We suggest that these factors reflect some of the reluctance among clinicians to omit the sentinel lymph node procedure in these patients.

Background. Breast cancer ranks as the second most prevalent malignancy among women in Nepal. This cancer has a high likelihood of cure, if detected early. Therefore, it is imperative to emphasize awareness and screening for breast cancer in Nepal. It indeed underscores the importance of clinical breast examination. The study aims to find the disease burden, association of abnormal breast condition with sociodemographic variables, and the need for change in the breast cancer screening protocol. Methods. A cross-sectional study was conducted from July to September 2023 on 100 female participants who were older than 18 years. Data were collected through face-to-face interviews using a structured questionnaire. The chi-square test was used to compare nominal variables while the independent sample t-test and the paired sample t-test were used to compare nominal and continuous variables. Results. The findings of the study showed that 19% of all participants complained about abnormal breast, out of which 31.7% reported lumps, 26.31% reported discharge , another 26.31% reported pain, and the remaining 15.7% reported soreness. The upper outer quadrant and lower inner quadrant each individually accounted for 33.33% of the abnormal findings. The complaints of the participants in our study were significantly correlated with age at marriage, number of pregnancies, and use of contraception. Conclusion. Our study revealed considerable abnormal breast findings. This warrants the need for the change in breast cancer screening protocols which lead to early diagnosis and higher curability.

Purpose. Breast cancer is a heterogeneous disease. Exploring new prognostic and therapeutic targets in patients with breast cancer is essential. This study investigated the expression of MET, ESR1, and ESR2 genes and their association with clinicopathologic characteristics and clinical outcomes in patients with breast cancer. Methods. The METABRIC dataset for breast cancer was obtained from the cBioPortal public domain. Gene expression data for MET, ESR1, and ESR2, as well as the putative copy number alterations (CNAs) for MET were retrieved. Results. The MET mRNA expression levels correlated inversely with the expression levels of ESR1 and positively with the expression levels of ESR2 (r = −0.379, p < 0.001 and r = 0.066, and p = 0.004, respectively). The ESR1 mRNA expression was significantly different among MET CNAs groups (p < 0.001). Patients with high MET/ESR1 coexpression had favorable clinicopathologic tumor characteristics and prognosticators compared to low MET/ESR1 coexpression in terms of greater age at diagnosis, reduced Nottingham Prognostic Index, lower tumor grade, hormone receptor positivity, HER2-negative status, and luminal subtype (p < 0.001). In contrast, patients with high MET/ESR2 coexpression had unfavorable tumor features and advanced prognosticators compared to patients with low MET/ESR2 coexpression (p < 0.001). No significant difference in overall survival was observed based on the MET/ESR coexpression status. However, when data were stratified based on the treatment type (chemotherapy and hormonal therapy), survival was significantly different based on the coexpression status of MET/ESR. Conclusions. Findings from our study add to the growing evidence on the potential crosstalk between MET and estrogen receptors in breast cancer. The expression of the MET/ESR genes could be a novel prognosticator and calls for future studies to evaluate the impact of combinational treatment approaches with MET inhibitors and endocrine drugs in breast cancer.

Introduction. Oncologic mastectomy in the setting of obesity poses challenges in achieving a flat closure that includes the lateral adiposity. The angel wing (AW) technique was developed to address this issue. We aim to demonstrate the safety of AW by evaluating incidence of arm lymphedema (AL) and decreased range of motion (dROM) in patients postmastectomy with and without the AW closure. Methods. We performed a single-center retrospective cohort study at an academic referral center of patients who underwent mastectomy with and without the AW technique from May 2014 to October 2022. Those who received breast reconstruction (immediate or delayed), partial mastectomy, and male patients were excluded. The presence of postoperative AL and dROM was evaluated. Subgroup analysis was performed for patient factors including BMI, extent of axillary surgery, PMRT, and pathologic stage. Results. A total of 390 patients met inclusion criteria. Of those, 173 (44.4%) underwent AW and 217 (55.6%) had non-AW mastectomy. Expectedly, the average BMI was significantly higher in the AW cohort (p < 0.0001). The overall rate of AL was 51/390 (13.1%), seen in 27 (15.6%) undergoing AW and 24 (11.1%) non-AW (p value = 0.18). While the rate of dROM within the cohort was 52/390 (13.1%), 27 (15.6%) underwent AW vs. 24 (11.1%) non-AW (p value = 0.22), resulting in no statistical significance between AW and non-AW mastectomy upon subsequent development of AL or dROM. Conclusion. Our study demonstrates the AW technique does not convey an increased risk of overall AL or dROM, even when considering known risk factors such as obesity, PMRT, and extent of axillary surgery. As we strive to provide our patients with improved surgical techniques for oncologic resection, we submit that this technique is a viable and safe option for achieving the goals of cosmesis with oncologic safety.

Purpose. Breast cancer is the most common cancer among women globally, with an incidence of approximately two million cases in 2018. Organised age-based breast cancer screening programs were established worldwide to detect breast cancer earlier and to reduce mortality. Currently, there is substantial anticipation regarding risk-adjusted screening programs, considering various risk factors in addition to age. The present study investigated the discriminatory accuracy of breast cancer risk prediction models and whether they suit risk-based screening programs. Methods. Following the PICO scheme, we conducted an overview of reviews and systematically searched four databases. All methodological steps, including the literature selection, data extraction and synthesis, and the quality appraisal were conducted following the 4-eyes principle. For the quality assessment, the AMSTAR 2 tool was used. Results. We included eight systematic reviews out of 833 hits based on the prespecified inclusion criteria. The eight systematic reviews comprised ninety-nine primary studies that were also considered for the data analysis. Three systematic reviews were assessed as having a high risk of bias, while the others were rated with a moderate or low risk of bias. Most identified breast cancer risk prediction models showed a low prognostic quality. Adding breast density and genetic information as risk factors only moderately improved the models’ discriminatory accuracy. Conclusion. All breast cancer risk prediction models published to date show a limited ability to predict the individual breast cancer risk in women. Hence, it is too early to implement them in national breast cancer screening programs. Relevant randomised controlled trials about the benefit-harm ratio of risk-adjusted breast cancer screening programs compared to conventional age-based programs need to be awaited.