Breast Cancer Cases Research Articles

Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer

Between 5% and 10% of breast cancer cases are associated with an inherited germline pathogenic or likely pathogenic variant (GPV) in a breast cancer susceptibility gene (BCSG), which could alter local and systemic therapy recommendations. Traditional genetic testing criteria misses a proportion of these cases. To evaluate the prevalence and clinicopathological associations of GPVs in 2 groups of BCSGs among an ethnically diverse cohort of women with newly diagnosed breast cancer. This cross-sectional study, conducted at 3 Montreal hospitals between September 2019 and April 2022, offered universal genetic counseling and testing to all women with a first diagnosis of invasive breast cancer. Women were offered an obligatory primary panel of BRCA1, BRCA2, and PALB2 (B1B2P2) and an optional secondary panel of 14 additional BCSGs. Eligible participants were women 18 years of age or older who received a diagnosis of a first primary invasive breast cancer not more than 6 months before the time of referral to the study. Data were analyzed from November 2023 to June 2024. Of 1017 referred patients, 805 were eligible and offered genetic counseling and testing, and 729 of those 805 (90.6%) consented to be tested. The median age at breast cancer diagnosis was 53 years (range, 23-91 years), and 65.4% were White and of European ancestry. Fifty-four GPVs were identified in 53 patients (7.3%), including 39 patients (5.3%) with B1B2P2 and 15 patients (2.1%) with 6 of the 14 secondary panel BCSGs (ATM, BARD1, BRIP1, CHEK2, RAD51D, and STK11). On multivariable analysis, clinical factors independently associated with B1B2P2-positive status included being younger than 40 years of age at diagnosis (odds ratio [OR], 6.83; 95% CI, 2.22-20.90), triple-negative breast cancer (OR, 3.19; 95% CI, 1.20-8.43), high grade disease (OR, 1.68; 95% CI, 1.05-2.70), and family history of ovarian cancer (OR, 9.75; 95% CI, 2.65-35.85). Of 39 B1B2P2-positive patients, 13 (33.3%) were eligible for poly(adenosine diphosphate-ribose) polymerase (PARP) inhibitors. In this cross-sectional universal genetic testing study of women with newly diagnosed invasive breast cancer, the prevalence of GPVs was 7.3%, with 5.3% of patients testing positive for B1B2P2. Among B1B2P2-women women, one-third were eligible for PARP inhibitors.

Analysing The Breast Cancer Awareness Of Public Health Care Management In India

One of the most prevalent types of cancer impacting women worldwide is breast cancer. Breast cancer in women is a significant global public health issue because of its high rate of morbidity and mortality as well as its substantial social and financial costs. The number of new cases and fatalities from breast cancer is rising year, contributing to the disease's growing global burden. In India, breast cancer ranks second in terms of cancer-related fatalities among women and is the most common cancer. However, the percentage is undoubtedly higher in America, where one in eight people get this potentially fatal cancer. According to the Population Based Cancer Registry of India, between 25% and 31% of all malignancies in women in urban areas (such as Mumbai, Delhi, Chennai, Ahmadabad, Bangalore, Bhopal, etc.) are breast cancers. Although the rise in breast cancer cases is mostly reported in large cities, it is very likely that many cases go unreported in rural areas. The average age at which breast cancer is diagnosed has dropped from 50–70 years to 30–50 years. Millions of people can be assisted in lowering the risk of breast cancer by receiving the right information and treatment under the direction of professionals. Therefore, this study aims to investigate practitioners' opinions regarding the implementation of the awareness model in the health sector as well as the public's perspective of the models for women suffering breast cancer.

SEMA7A as a Novel Prognostic Biomarker and Its Correlation with Immune Infiltrates in Breast Cancer.

The role of Semaphorin 7a (SEMA7A) in the initiation and progression of different types of cancerous lesions has been extensively studied. However, the prognostic significance of SEMA7A, specifically in breast cancer (BC), lacks clarity. We conducted an evaluation on the relationship between SEMA7A and the prognosis, immune invasion and tumor mutation burden in different types of cancer by analyzing data from The Cancer Genome Atlas database. The present study focused on investigating the expression level, mutation, immune correlation and coexpression of SEMA7A in BC, utilizing various databases such as the University of Alabama at Birmingham Cancer data analysis portal, cBioPortal and tumor immune estimation resource. Survival analysis was carried out using the Kaplan-Meier Plotter. Furthermore, we employed the R software package to generate receiver operating characteristic (ROC) curves and nomograms. Notably, P<0.05 was considered to indicate statistical significance. Using pancancer analysis, it has been observed that the expression of SEMA7A is elevated in various types of cancer and is strongly correlated with the prognosis of different cancer types. SEMA7A also exhibits a significant association with the tumor mutation burden of diverse types of cancer. Moreover, SEMA7A displays a notable increase in BC cases, and was indicated to have a substantial association with the abundance of immune infiltration. In-depth survival analysis demonstrated that elevated levels of SEMA7A expression are notably linked to shorter overall survival and distant metastasis-free survival among patients with BC. The efficiency of SEMA7A as a reliable prognostic biomarker for BC has been substantiated by the validation of ROC curves and nomograms. SEMA7A has the potential to function as a prognostic indicator for BC, and its correlation with immune infiltration in BC is significant.

Evolving role of staging CT scans during CT-angiography for DIEP flap reconstruction planning

BackgroundPre-operative planning with CTA in DIEP flap reconstruction is an essential preoperative tool. The aim of this study was to describe the management of the incidental findings following introduction and further modification of a combined CTA and CT-staging pre-operative protocol which include chest, abdomen, pelvis and musculoskeletal system. Material, methodA retrospective case series of 292 patients (Group1) with breast cancer who underwent DIEP flap between 2015 and 2019. This was followed by a re-assessment between 2019 and 2021 for 101 patients (Group 2) following modification of the staging-CT protocol for only those patients who received chemotherapy. Group 1 includes both of immediate and delayed reconstruction and, but the Group 2 includes only the high-risk cases of delayed reconstruction. Both groups had CT staging. Result30% of Group 1, most likely who had the delayed reconstruction, had findings which were recommended for further follow-up. This led to a change in staging of high-risk patients only at the end of 2019 to those who underwent chemotherapy who had delayed reconstruction.56.4% of Group 2 demonstrated incidental findings, 42.1% of them necessitated repeat scanning, 7% were referred to other specialties and 47.4% did not require further action There were no cases of occult metastatic breast cancer in either series; however, 1% were diagnosed with de novo primary cancers at non breast sites in the first series only. ConclusionThe screening of asymptomatic breast cancer patients as part of CTA scanning prior to autologous reconstruction is not universally practiced and not supported by NICE guidelines. This unit has changed practice to stop pre-operative staging for low-risk patients at the end of 2019, reserving it for the high-risk patient groups to reduce cost.

Perfluoroalkyl substances exposure and the risk of breast cancer: A nested case-control study in Jinchang Cohort

BackgroundAs persistent organic pollutants (POPs), perfluoroalkyl substances (PFAS) may potentially impact human health. Our study aimed to investigate the prospective association between PFAS exposure and the incidence risk of breast cancer in females. MethodsBy fully following the Jinchang Cohort after a decade, we conducted this nested case-control study with 135 incidence cases of breast cancer (BC) and 540 bias-paired controls. The PFAS levels were tested by baseline serum samples. Conditional logistic regression and a restricted cubic spline model were employed to investigate the BC incidence risks and the dose-response associated with single PFAS component exposure. Furthermore, the Quantile g-computation model (Qgc), random forest model (RFM), and bayesian kernel machine regression models (BKMR) were integrated to estimate the mixed effects of PFAS exposure on the incidence risk of BC. ResultsExposures to specific PFAS components were positively associated with an increased incidence risk of breast cancer. By grouping the study population into different baseline menopausal statuses, PFHxS, PFNA, PFBA, PFUdA, PFOS, and PFDA demonstrated a similarly positive correlation with BC incidence risks. However, the increased incidence risks of BC associated with PFOA, PFOS, PFUdA, and 9CL-PF3ONS exposure were exclusively found in the premenopausal population. Both BKMR and Qgc revealed that exposure to mixed PFAS was associated with an increased risk of breast cancer, with Qgc specifically indicating an odds ratio (OR) of 2.21 (95% CI: 1.53, 3.19). Random forests showed that PFBA, PFOS, PFHxS, and PFDA emerged as predominant factors potentially influencing breast cancer incidence. ConclusionOur findings suggest a strong association between PFAS exposure and the incidence of breast cancer. Premenopausal women should exercise more caution regarding PFAS exposure.

A Case of Breast Cancer Developing Adjacent to an Implanted Pacemaker

A Case of Breast Cancer Developing Adjacent to an Implanted Pacemaker

Evaluating the Impact of a Clinical Breast Examination Screening Program within the IraPEN Project.

Breast cancer is a prevalent global cancer and a leading cause of mortality in developed countries. In 2015, Iran introduced the Package of Essential Noncommunicable Diseases (IraPEN) as a pilot project to tackle prevalent noncommunicable diseases, including breast cancer. However, there is limited research evaluating the implementation, costs, and outcomes of breast cancer screening within IraPEN. Therefore, this study aims to investigate the costs and outcomes of the clinical breast examination screening program in Isfahan from 2017 to 2020. This descriptive cost-outcome study utilized data from 450,876 individuals aged 30 to 69 who participated in clinical breast examination screening. The outcomes assessed in this program encompassed the number of participants, the number of individuals identified with symptoms, referrals to the next level of examination, the number of individuals undergoing mammography, recorded mammography results, and the number of cases of breast cancer identified. Direct costs were estimated, including personnel, infrastructure, equipment, and other related expenses. ‌The findings revealed that the direct costs of the breast cancer screening program in Isfahan between 2017 and 2020 were 310,514,608,558 Rials, equivalent to approximately 15,470,633 PPP$. These expenses led to the identification of 134,508 individuals with symptoms, referrals of 258,599 individuals to the subsequent level of examination, and approximately 55,974 individuals undergoing mammography tests. This study demonstrates that the breast cancer screening program provides a significant number of women in the target age group with breast self-examination education while raising public awareness about this disease.

Observational Study of Men and Women with Breast Cancer in Terms of Overall Survival.

This cohort study represents a retrospective and anonymized data analysis of 2162 breast cancer cases (19 males and 2143 females), registered over a period of 12 years, from 1 January 2010 to 31 December 2021, in the Clinic of Obstetrics and Gynecology, Diakoneo Diak Klinikum Schwäbisch Hall, Germany. According to the Kaplan-Meier survival analysis, the estimated overall 3-year survival rate was 91.1% for women and 88.9% for men. The log-rank test of equality of survival distributions indicated a statistically significant difference in survival times between the two groups (p = 0.009). In the subsequent age-matched Kaplan-Meier analysis, the p-value was below the significance threshold (p = 0.068). Male breast cancer is a rare disease that may show some particularities in terms of survival compared to female breast cancer.

Factors influencing prophylactic surgical intervention in women with genetic predisposition for breast cancer.

In the United States, 5%-10% of breast cancer cases are due to genetic predisposition. Among this population, prophylactic mastectomy is viable risk-reducing option. The objective of this study is to understand the timing to prophylactic mastectomy in patients with genetic predisposition to breast cancer and uncover factors influencing this decision. This study is a retrospective review of patients diagnosed with genetic predisposition for breast cancer from 2010 to 2020. In a cohort of 506 patients with genetic predisposition for breast cancer, 154 (30.4%) underwent prophylactic mastectomy, the remainder opted for surveillance alone. The median time from diagnosis to mastectomy was 1.1 years (IQR, 0.5-3.1 years). During the surveillance period, 118 patients (33.5%) underwent breast biopsy. Of the patients with benign or atypical findings, 35 (36.8%) pursued prophylactic mastectomy, a median of 0.5 years (IQR, 0.2-1.6 years) after their gene diagnosis. The most common factor impacting the decision to undergo prophylactic mastectomy was having a family member with cancer (54.7%) followed by a personal diagnosis of other cancer(s) (27.5%). Understanding the factors influencing the decision to undergo prophylactic surgery will allow for more effective shared decision-making for primary care providers, breast surgeons, and reconstructive surgeons.

8 Characterizing Breast Cancer Cases from the Yukon Referred for Treatment in British Columbia

8 Characterizing Breast Cancer Cases from the Yukon Referred for Treatment in British Columbia

SANAS-Net: spatial attention neural architecture search for breast cancer detection

&lt;p&gt;The utilization of mammography images plays a vital role in the prompt detection and treatment of breast cancer. Breast imaging techniques aid medical professionals in assessing the dimensions, morphology, and spatial orientation of breast lesions, facilitating the differentiation between benign and malignant conditions. Breast tissue can vary widely in terms of density, composition, and structure, leading to complexities in distinguishing between benign and malignant conditions. The primary contribution of this paper is the proposal of a spatial attention-based neural architecture search network (SANAS-Net) technique that incorporates a spatial attention mechanism, enabling the model to learn and prioritize key regions within mammograms (MMs). Multi-head attention is employed within the transformer blocks to effectively capture a wide range of spatial relations and feature interactions. Global contextual information was integrated into the transformer blocks by means of introducing positional embeddings. Several practical studies have been undertaken to verify the effectiveness of our methodology in identifying fully attentive networks that exhibit good performance in distinguishing between malignant and benign breast cancer cases. The experimental study reached a test accuracy of 89.95%, which is way higher than previously proposed algorithms for mammography imagebased breast cancer detection.&lt;/p&gt;

Male and female disparities in breast cancer epidemiology: A comparative cross-sectional analysis of a Brazilian cohort (2017–2021)

Male breast cancer (MBC) is a rare condition, accounting for approximately 1 % of all breast cancer cases. Nevertheless, the paucity of MBC-specific research has impeded a thorough understanding of MBC. In this study, we aimed to delineate the epidemiological implications of MBC in Brazil and benchmarked it against female breast cancer (FBC). This retrospective study analyzed data from the DATASUS database (2017–2021), which assessed the incidence of breast cancer in both sexes. All statistical analyses were performed using descriptive statistics and inferential methods, with significance set at a 95 % confidence interval. We identified 4,326 (1.7 %) and 233,793 (94.2 %) patients with MBC and FBC, respectively, in Brazil. Despite the general population concentration in the Southeast, MBC cases were more prevalent in the Northeast (p < 0.0004). At breast cancer diagnosis, males were typically older (mean age 59.5 [±10.2] years) than females (mean age 55.7 7 [±9.8] years). MBC was more commonly diagnosed clinically compared with FBC, which was most commonly diagnosed via screening. Surgical diagnostics were twice as likely in males, who also more frequently presented with advanced disease stages (stages III and IV; 72.8 % vs. 59.3 %), leading to a higher rate of mastectomy. Treatment was initiated earlier in males than in females. Although MBC comprises a minority of breast cancer cases, it is more frequently diagnosed at an advanced stage compared with FBC and necessitates aggressive treatment. Our study also underscores the potential benefit of prompt initiation of therapy and need for tailored clinical approaches in patients with MBC.

USP36 promotes tumorigenesis and tamoxifen resistance in breast cancer by deubiquitinating and stabilizing ERα

BackgroundBreast cancer is the most prevalent cancer in women globally. Over-activated estrogen receptor (ER) α signaling is considered the main factor in luminal breast cancers, which can be effectively managed with selective estrogen receptor modulators (SERMs) like tamoxifen. However, approximately 30–40% of ER + breast cancer cases are recurrent after tamoxifen therapy. This implies that the treatment of breast cancer is still hindered by resistance to tamoxifen. Recent studies have suggested that post-translational modifications of ERα play a significant role in endocrine resistance. The stability of both ERα protein and its transcriptome is regulated by a balance between E3 ubiquitin ligases and deubiquitinases. According to the current knowledge, approximately 100 deubiquitinases are encoded in the human genome, but it remains unclear which deubiquitinases play a critical role in estrogen signaling and endocrine resistance. Thus, decoding the key deubiquitinases that significantly impact estrogen signaling, including the control of ERα expression and stability, is critical for the improvement of breast cancer therapeutics.MethodsWe used several ER positive breast cancer cell lines, DUB siRNA library screening, xenograft models, endocrine-resistant (ERα-Y537S) model and performed immunoblotting, real time PCR, RNA sequencing, immunofluorescence, and luciferase activity assay to investigate the function of USP36 in breast cancer progression and tamoxifen resistance.ResultsIn this study, we identify Ubiquitin-specific peptidase 36 (USP36) as a key deubiquitinase involved in ERα signaling and the advancement of breast cancer by deubiquitinases siRNA library screening. In vitro and in vivo studies showed that USP36, but not its catalytically inactive mutant (C131A), could promote breast cancer progression through ERα signaling. Conversely, silencing USP36 inhibited tumorigenesis. In models resistant to endocrine therapy, silencing USP36 destabilized the resistant form of ERα (Y537S) and restored sensitivity to tamoxifen. Molecular studies indicated that USP36 inhibited K48-linked polyubiquitination of ERα and enhanced the ERα transcriptome. It is interesting to note that our results suggest USP36 as a novel biomarker for treatment of breast cancer.ConclusionOur study revealed the possibility that inhibiting USP36 combined with tamoxifen could provide a potential therapy for breast cancer.

Longitudinal dynamics of circulating tumor DNA for treatment monitoring in patients with breast cancer recurrence

The prevalence and dynamics of circulating tumor DNA (ctDNA) in patients with breast cancer recurrence or de novo metastatic cancer were examined in a retrospective analysis of a prospective observational cohort. Twenty-three recurrent/metastatic breast cancer cases (8 locoregional, 15 distant metastasis) were enrolled, and sequential plasma samples were obtained. Anchor mutations were selected from the target sequencing of each patient’s primary and/or metastatic tumor. An in-house developed assay (UHS assay) was employed for a tumor-informed ctDNA assay during treatment and follow-up. A median of three (range 1–5) anchor mutations per case were applied for ctDNA detection. ctDNA was detected in 14 (63.6%, 14/22) cases at the time of enrollment and 18 (78.5%, 18/23) cases during follow-up. More anchor mutations and higher tumor burden were significantly related to higher ctDNA positive rates (p-value 0.036, 0.043, respectively). The mean enriched variant allele frequency (eVAF) at each time point was significantly higher for stable or progressive disease responses (ANOVA test p-value < 0.001). Eight patients showed an increase in their ctDNA eVAF prior to clinical progression with a mean lead time of 6.2 months (range 1.5–11 months). ctDNA dynamics measured using personalized assay reflected the clinical course of breast cancer recurrence.

Docetaxel-induced severe neuropathy, a case of breast cancer with GTSP1 polymorphism.

Breast cancer, the most prevalent cancer among women, often requires chemotherapy with docetaxel being a key agent. However, docetaxel-inducted peripheral neuropathy (DIPN) can adversely impact patients' quality of life. This case discusses an unusual instance of severe DIPN leading to wheelchair dependence in a 35-years old woman undergoing neoadjuvant treatment for locally advanced breast cancer. Following anthracycline and cyclophosphamide cycles without neurological symptoms, docetaxel administration resulted in progressive neuropathy. Despite dose reduction, the patient developed severe paraesthesias, foot weakness, and eventually wheelchair dependence. Docetaxel's microtubule-stabilizing mechanism, vital for cell division, may disrupt axonal structures, causing sensory and motor neuropathy. While rare, severe motor neuropathy, leading to wheelchair dependence, poses a significant challenge. The frequency of DIPN varies, with docetaxel exhibiting lower neuropathy rates than other taxanes. Risk factors include age, diabetes mellitus, cumulative dose, and genetic polymorphisms in GSTP1 and ABCB1. In our case, despite the patient being young, fit and without diabetes, severe DIPN occured, suggesting a potential genetic predisposition. Genetic variations, such as GSTP1 polymorphisms have been associated with DIPN. Our patient carried GSTP1 (I1e105Val) mutations, emphasizing the need for further research to establish their role as risk factors. This case underscores the importance of recognizing severe DIPN, even in atypical patient profiles. Genetic factors, like GSTP1 polymorphisms, may contribute to DIPN risk. Large-scale studies are crucial to establishing the significance of these genetic variations in DIPN susceptibility.

Tumor Budding: A Novel Prognostic Marker in Breast Carcinoma with Correlation of Histopathological and Immunohistochemical Parameters

Introduction Breast cancer is a highly heterogenous tumor with different subtypes showing varying prognosis. Tumor budding is an unfavorable histological feature of many epithelial cancers. The purpose of this study is to analyze the association between tumor bud density with various histological and immunohistochemical characteristics and to explore its prognostic role in breast carcinoma. Materials and Methods A retrospective analysis was performed on 100 patients of breast cancer diagnosed in our institute from January to December 2017. Hematoxylin and eosin (H&amp;E) stained slides from tumors and immunohistochemical slides were reviewed independently by two pathologists, and clinical data were acquired from computerized records. Patients on neoadjuvant chemotherapy were excluded from the study. Results The study comprised 100 patients of invasive breast carcinoma. The median age was 52 years, and 96% were invasive ductal carcinoma. The median follow-up was 34 months. High tumor bud density was substantially correlated with primary tumor staging (T3, T4; 73% [11/15] cases) and lymph node staging (N2, N3; 68% [13/19] cases) with p-values of 0.017 and 0.023, respectively. Systemic metastasis (85% [6/7] cases) was significantly associated with high tumor bud density (p =0.025) but lymphovascular invasion (LVI) and perineural invasion (PNI) were not significantly associated with tumor bud density (p = 0.762 and 0.862, respectively). Patients with N2 nodal stage had low event-free survival rate than N0/N1 nodal stage irrespective of tumor bud status. Grade 3 tumors with high tumor bud density had worse event-free survival than any other grades. There was no association of tumor bud density with tumor staging, necrosis, PNI, LVI, estrogen receptor (ER), progesterone receptor (PR) and Her2/neu, and event-free survival. Conclusion Strong relationships have been found between tumor bud density and poor prognostic variables such as primary tumor staging and lymph node staging. These results provide credence to the idea that tumor bud density can be an assessable prognostic feature that should be taken into account while reporting breast cancer cases. Tumor bud density evaluation has to be standardized nevertheless if it is to be widely adopted.

Real-world Comparison of P53 Immunohistochemistry and TP53 Mutation Analysis Using Next-generation Sequencing.

TP53 mutation in breast cancer (BC) is associated with chemoresistance, endocrine therapy resistance, and late recurrence, resulting in poor prognosis. Nuclear accumulation of p53 in immunohistochemistry (IHC) is a surrogate marker of TP53 mutation. This study analyzed the frequency, type, and distribution of TP53 mutations in BCs and assessed the efficacy of p53 IHC as a surrogate marker of TP53 mutation. We collected data from 112 BC cases, including the results of p53 IHC and next-generation sequencing (NGS). Over-expression of p53 IHC was observed in 36 patients (32.1%), complete absence in 19 patients (17.0%), aberrant cytoplasmic staining in 1 patient (0.9%), and wild-type in 56 (50.0%) patients. The concordance rate between TP53 mutation and p53 IHC was 88.4% in all BCs, 89.9% in luminal BCs, and 86.0% in triple-negative BCs (TNBC). TNBC, abnormal p53 IHC pattern, p53 IHC over-expression, neoadjuvant chemotherapy (NAC) history, TP53 mutation, and high pre-treatment ki-67 labeling index (≥50%) were significantly associated with worse distant metastasis-free survival (DMFS) and overall survival (OS) (p<0.05). Pre-NAC clinical stage III was associated with worse DMFS but not OS. Multivariate analysis showed that NAC history, TNBC, and p53 IHC over-expression were independent predictors of worse DMFS. An abnormal p53 IHC pattern and NAC history were independent predictors of worse OS. P53 IHC is a valid surrogate marker of TP53 mutation in BC. Accumulation of abnormal p53 alone, regardless of TP53 mutation, was associated with worse DMFS and can be used as an easily accessible biomarker to predict chemoresistance.

Impacts of Matrix Metalloproteinase-2 Promoter Genotypes on Breast Cancer Risk.

Matrix metalloproteinase-2 (MMP-2) has been implicated in the pathogenesis of breast cancer (BC). However, there is limited research on the role of MMP-2 genotypes in BC risk. This study aimed to investigate the associations between two MMP-2 promoter polymorphisms, rs243865 and rs2285053, and BC risk. MMP-2 genotypes were analyzed using PCR-based RFLP methodology in a cohort comprising 1,232 BC cases and 1,232 controls. Genotypic frequencies of MMP-2 rs243865 and rs2285053 in controls were consistent with Hardy-Weinberg equilibrium (p=0.3702 and 0.2036, respectively). There were no significant differences in the distribution of rs243865 and rs2285053 genotypes between BC cases and controls (p for trend=0.1602 and 0.2170, respectively). Variant genotypes at rs243865 and rs2285053 appeared to confer a protective effect, although not statistically significant (all p>0.05). Similarly, the variant T allele at rs243865 and rs2285053 showed a non-significant trend towards decreased BC risk (OR=0.84 and 0.89, 95%CI=0.69-1.02 and 0.78-1.02, p=0.0811 and 0.1043, respectively). There was no interaction observed between MMP-2 rs243865 or rs2285053 genotypes and age. Stratified analysis did not reveal significant associations between MMP-2 rs243865 or rs2285053 genotypes and triple-negative breast cancer (TNBC) (p=0.6458 and 0.8745, respectively). Among both TNBC and non-TNBC cases, none of the variant genotypes at rs243865 or rs2285053 showed significant associations with TNBC (all p>0.05). MMP-2 rs243865 and rs2285053 genotypes appear to have a minimal impact on individual susceptibility to BC or TNBC.

Vacuum aspiration biopsy: evolution of the method, prevention of hemorrhagic complications

In Russia, more than 70,000 new cases of breast cancer are registered annually. Vacuum aspiration biopsy (VAB) is a minimally invasive method for diagnosing the genesis of focal breast pathology, which is also used for therapeutic purposes for the complete removal of benign neoplasms. High efficiency and favorable clinical outcomes have allowed VAB to gain wide popularity in clinical practice, due to which the method has been widely developed. However, like any surgical intervention, the VAB procedure may be accompanied by complications, the main share of which are hemorrhagic. Generalization and systematization of information on the development of the VAB technique, prevalence and risk factors of complications, as well as methods of their prevention and timely elimination. Scientific publications cited in this literature review were selected from the Pubmed database of medical and biological publications (National Center for Biotechnology Information (NCBI), USA), the Clinical Key database (Elsevier Corporation, the Netherlands), Web of Science Citation Indexing Database (Clarivate, USA), Google Scholar (CIF), and the scientific electronic library elibrary.ru (Russia). The information presented in the article can become a theoretical basis for future research aimed at increasing safety, further development and improvement of the VAB technique.

Surgical and irradiated case of early breast cancer in a patient with Ehlers–Danlos syndrome

BackgroundEhlers–Danlos syndrome (EDS) is a rare inherited connective tissue disease characterized by hyperextensibility of the skin and joints and tissue fragility of the skin and blood vessels, Vascular EDS is the most severe form of EDS, with abnormal arterial fragility. There have been no reports of breast cancer occurring in patients with vascular EDS. Here, we report here a very rare case of breast cancer in a patient with vascular EDS.Case presentationA 46-year-old woman with vascular EDS underwent partial left mastectomy and sentinel lymph node biopsy for left breast cancer (cStage 0) detected by medical examination. The final pathological diagnosis was invasive ductal carcinoma of the breast (pStage IA) [hormone receptor-positive, HER2 score 2 equivocal (FISH-positive), Ki-67LI 18%, luminal-HER2 type]. BluePrint was submitted as an aid in determining the postoperative treatment strategy, BluePrint Molecular Subtype HER2-type. However, the 10-year breast cancer mortality risk using Predict was low (5%). After consultation with the patient, the decision was made to administer postoperative radiation to the preserved breast along with hormone therapy only. There was no delay in postoperative wound healing, and the patient was free of metastatic recurrence for 9 months after surgery.ConclusionWe performed surgery, postoperative radiotherapy, and hormonal therapy in a breast cancer patient with vascular EDS without major complications.