Breast Cancer : Targets and Therapy最新文献

{"title":"\"Diagnostic and Prognostic Biomarkers of Luminal Breast Cancer: Where are We Now?\"","authors":"Anna Höller, Bich Doan Nguyen-Sträuli, Heike Frauchiger-Heuer, Alexander Ring","doi":"10.2147/BCTT.S340741","DOIUrl":"10.2147/BCTT.S340741","url":null,"abstract":"<p><p>Luminal breast cancers are hormone receptor (estrogen and/or progesterone) positive that are further divided into HER2-negative luminal A and HER2-positive luminal B subtypes. According to currently accepted convention, they represent the most common subtypes of breast cancer, accounting for approximately 70% of cases. Biomarkers play a critical role in the functional characterization, prognostication, and therapeutic prediction, rendering them indispensable for the clinical management of invasive breast cancer. Traditional biomarkers include clinicopathological parameters, which are increasingly extended by genetic and other molecular markers, enabling the comprehensive characterization of patients with luminal breast cancer. Liquid biopsies capturing and analyzing circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) are emerging technologies that envision personalized management through precision oncology. This article reviews key biomarkers in luminal breast cancer and ongoing developments.</p>","PeriodicalId":9106,"journal":{"name":"Breast Cancer : Targets and Therapy","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2023-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/38/bc/bctt-15-525.PMC10392911.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9932974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perceived Barriers and Facilitators to Breast Cancer Screening Among Women in Saudi Arabia.","authors":"Assim AlAbdulKader,&nbsp;Danya Gari,&nbsp;Ghada Al Yousif,&nbsp;Amal Alghamdi,&nbsp;Shikha AlKaltham,&nbsp;Fahad AlDamigh,&nbsp;Yazan AlEisawi,&nbsp;Abdulhadi AlGhamdi,&nbsp;Omar Al-Hayek,&nbsp;Ali AlMudhi","doi":"10.2147/BCTT.S406029","DOIUrl":"https://doi.org/10.2147/BCTT.S406029","url":null,"abstract":"<p><strong>Background: </strong>According to the World Health Organization, by the end of 2020, an estimated 7.8 million people was living with breast cancer diagnosed between 2015 and 2020; in Saudi Arabia, more than fifty percent of cancer cases are detected in late stages, which results in increased mortality rates and reduces the chances of remission. Breast cancer screening using mammography in women fifty years and older worldwide and in women forty years and older in Saudi Arabia shows a significant decrease in morbidity and mortality. However, screening rates are not satisfactory and require further investigation.</p><p><strong>Methods: </strong>This cross-sectional study included women aged 40 years and older. Data was collected through an online survey distributed via social media platforms to all regions of Saudi Arabia. Chi-square and Fisher's exact tests were used to examine the difference in the distribution of study variables among women who had received breast screening and those who had not. A logistic regression model was used to estimate the risk of not having breast cancer screening.</p><p><strong>Results: </strong>A total of 973 participants completed the survey. Among respondents, 476 (48.9%) had been screened at least once in their lifetime. The main motivators for screening were: receiving an advice from a physician (41.8%), interest in early detection (39.8%), and receiving free mammography (29.7%). On the other hand, the main barriers to receiving breast cancer screening were: finding screening unnecessary (24.2%), believing screening to be painful (22.1%), and fearing abnormal results (18.6%).</p><p><strong>Conclusion: </strong>We found that nearly half of the targeted screening group had never received mammography screening. These results warrant urgent attention, as early detection is key to better outcomes. Our study's results aid in better understanding the public's points of view and inform interventions to improve breast cancer.</p>","PeriodicalId":9106,"journal":{"name":"Breast Cancer : Targets and Therapy","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/37/4e/bctt-15-505.PMC10386841.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9900950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Guideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer.","authors":"Hikmat Abdel-Razeq,&nbsp;Lama Abujamous,&nbsp;Khansa Al-Azzam,&nbsp;Hala Abu-Fares,&nbsp;Hira Bani Hani,&nbsp;Mais Alkyam,&nbsp;Baha' Sharaf,&nbsp;Shatha Elemian,&nbsp;Faris Tamimi,&nbsp;Fawzi Abuhijla,&nbsp;Sarah Edaily,&nbsp;Osama Salama,&nbsp;Hazem Abdulelah,&nbsp;Rand Daoud,&nbsp;Mohammad Abubaker,&nbsp;Areej Al-Atary","doi":"10.2147/BCTT.S394092","DOIUrl":"https://doi.org/10.2147/BCTT.S394092","url":null,"abstract":"<p><strong>Background: </strong>Genetic testing for at-risk patients with breast cancer should be routinely offered. Knowledge generated may influence both treatment decisions and cancer prevention strategies among the patients themselves and their relatives. In this study, we report on the prevalence and patterns of germline mutations, using commercially available next-generation sequencing (NGS)-based multi-gene panels (MGP).</p><p><strong>Patients and methods: </strong>Consecutive at-risk breast cancer patients, as determined by international guidelines, were offered germline genetic testing using a 20-gene NGS-based panel at a reference lab. Samples of peripheral blood were obtained for DNA extraction and genetic variants were classified as benign/likely benign (negative), pathogenic/likely pathogenic (positive) or variants of uncertain significance (VUS).</p><p><strong>Results: </strong>A total of 1310 patients, median age (range) 43 (19-82) years, were enrolled. Age ≤45 years (n = 800, 61.1%) was the most common indication for testing. Positive family history of breast, ovarian, pancreatic or prostate cancers, and triple-negative disease were among the common indications. Among the whole group, 184 (14.0%) patients had pathogenic/likely pathogenic variants; only 90 (48.9%) were in <i>BRCA1</i> or <i>BRCA2</i>, while 94 (51.9%) others had pathogenic variants in other genes; mostly in <i>APC, TP53, CHEK2</i> and <i>PALB2</i>. Mutation rates were significantly higher among patients with positive family history (p = 0.009); especially if they were 50 years or younger at the time of breast cancer diagnosis (p < 0.001). Patients with triple-negative disease had relatively higher rate (17.5%), and mostly in <i>BRCA1/2</i> genes (71.4%). Variants of uncertain significance (VUS) were reported in 559 (42.7%) patients; majority (90.7%) were in genes other than <i>BRCA1</i> or <i>BRCA2</i>.</p><p><strong>Conclusion: </strong>Pathogenic mutations in genes other than <i>BRCA1/2</i> are relatively common and could have been missed if genetic testing was restricted to <i>BRCA1/2</i>. The significantly high rate of VUS associated with multi-gene panel testing can be disturbing.</p>","PeriodicalId":9106,"journal":{"name":"Breast Cancer : Targets and Therapy","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bc/81/bctt-15-1.PMC9844102.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10554507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unraveling the Pivotal Network of Ultrasound and Somatic Mutations in Triple-Negative and Non-Triple-Negative Breast Cancer.","authors":"Yunxia Huang,&nbsp;Yi Guo,&nbsp;Qin Xiao,&nbsp;Shuyu Liang,&nbsp;Qiang Yu,&nbsp;Lang Qian,&nbsp;Jin Zhou,&nbsp;Jian Le,&nbsp;Yuchen Pei,&nbsp;Lei Wang,&nbsp;Cai Chang,&nbsp;Sheng Chen,&nbsp;Shichong Zhou","doi":"10.2147/BCTT.S408997","DOIUrl":"https://doi.org/10.2147/BCTT.S408997","url":null,"abstract":"<p><strong>Purpose: </strong>The emergence of genomic targeted therapy has improved the prospects of treatment for breast cancer (BC). However, genetic testing relies on invasive and sophisticated procedures.</p><p><strong>Patients and methods: </strong>Here, we performed ultrasound (US) and target sequencing to unravel the possible association between US radiomics features and somatic mutations in TNBC (n=83) and non-TNBC (n=83) patients. Least absolute shrinkage and selection operator (Lasso) were utilized to perform radiomic feature selection. The Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis was utilized to identify the signaling pathways associated with radiomic features.</p><p><strong>Results: </strong>Thirteen differently represented radiomic features were identified in TNBC and non-TNBC, including tumor shape, textual, and intensity features. The US radiomic-gene pairs were differently exhibited between TNBC and non-TNBC. Further investigation with KEGG verified radiomic-pathway (ie, JAK-STAT, MAPK, Ras, Wnt, microRNAs in cancer, PI3K-Akt) associations in TNBC and non-TNBC.</p><p><strong>Conclusion: </strong>The pivotal network provided the connections of US radiogenomic signature and target sequencing for non-invasive genetic assessment of precise BC treatment.</p>","PeriodicalId":9106,"journal":{"name":"Breast Cancer : Targets and Therapy","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3c/08/bctt-15-461.PMC10349575.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9823100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MCM-2 Levels as a Potential Biomarker for Predicting High-Risk Breast Cancer Patients According to TAILORx Classification.","authors":"Çağlar Ünal,&nbsp;Tolga Özmen,&nbsp;Ahmet Serkan İlgün,&nbsp;Çetin Ordu,&nbsp;Enver Özkurt,&nbsp;Naziye Ak,&nbsp;Gül Alço,&nbsp;Zeynep Erdoğan İyigün,&nbsp;Sevgi Kurt,&nbsp;Tomris Duymaz,&nbsp;Mehmet Alper Öztürk,&nbsp;Filiz Elbüken Çelebi,&nbsp;Kanay Yararbaş,&nbsp;Gürsel Soybir,&nbsp;Fatma Aktepe,&nbsp;Vahit Özmen","doi":"10.2147/BCTT.S421535","DOIUrl":"https://doi.org/10.2147/BCTT.S421535","url":null,"abstract":"<p><strong>Background: </strong>The minichromosome maintenance protein-2 (MCM-2) is a more sensitive proliferation marker than Ki-67. This study aimed to evaluate the relationship between MCM-2 and Oncotype DX recurrence score (ODX-RS) and determine an MCM-2 cutoff value in high-risk patients according to TAILORx risk categorization.</p><p><strong>Methods: </strong>Hormone receptor (HR) positive HER-2 negative early-stage breast cancer patients (pT1-2, pN0-N1, M0) who had ODX-RS were included in the study. According to the TAILORx trial, patients were divided into two groups with high (ODX-RS ≥26) and low risk (ODX-RS <26) in terms of ODX-RS. Formalin-fixed-paraffin-embedded tissues of patients were re-evaluated, and 3 µm sections were prepared for MCM-2 immuno-histochemical staining. The relationship between ODX-RS and the percentage of MCM-2 staining was evaluated in two groups. The ROC curve analysis was performed to determine the MCM-2 cut-off value for the TAILORx high-risk group (ODX-RS ≥26).</p><p><strong>Results: </strong>The mean MCM-2 value was significantly higher in the high-risk group [(60.2 ± 11.2 vs 34.4 ± 13.8, p < 0.001)]. In the multivariate analysis, MCM-2 (OR: 1.27, 95% CI: 1.08-1.49, p = 0.003) and progesterone receptor (PR) levels ≤10% (OR: 60.9, 95% CI: 4.1-89.7, p = 0.003) were found to be independent factors indicating a high-risk group. A one-unit increase in MCM-2 level increased the likelihood of being in the high-risk group by 1.27 times. In the ROC curve analysis, the optimal MCM-2 cut-off level was 50 (AUC: 0.921, sensitivity: 86.7%, specificity: 96.0%, p < 0.001).</p><p><strong>Conclusion: </strong>Our study is the first study in the literature to investigate the relationship between ODX-RS and MCM-2 levels in HR-positive HER-2 negative early breast-cancer patients. In this study, MCM-2 was an independent risk factor in identifying high-risk patients according to TAILORx risk classification. MCM 2 cut-off value (50) may help the decision on adjuvant chemotherapy in patients where the Oncotype DX test cannot be performed.</p>","PeriodicalId":9106,"journal":{"name":"Breast Cancer : Targets and Therapy","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a7/9e/bctt-15-659.PMC10478780.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10178344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detecting the Frequency of c.5946delT Pathogenic Variant in the <i>BRCA2</i> Gene and Associated Risk Factors Among Breast Cancer Patients Visiting Felege Hiwot Referral Hospital and University of Gondar Comprehensive Specialized Hospital.","authors":"Nega Berhane,&nbsp;Zemene Chekol,&nbsp;Aynias Seid","doi":"10.2147/BCTT.S414360","DOIUrl":"https://doi.org/10.2147/BCTT.S414360","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer is one of the most common cancers and the leading cause of death for women worldwide, and the problem is currently getting worse. In Ethiopia, it has become one of the most prevalent cancers, with high rates of morbidity and mortality. The <i>BRCA2</i> gene variant c.5946delT has been linked to a higher risk of developing breast cancer.</p><p><strong>Objective: </strong>The aim of the present study was to detect the presence of the c.5946delT pathogenic variant in the <i>BRCA2</i> gene and associated risk factors among breast cancer patients visiting FHRH and UoGCSH.</p><p><strong>Methods: </strong>A cross-sectional study was conducted from September 2021 to October 2022. Peripheral blood samples were collected from 100 patients with breast cancer, and gDNA was extracted using the salting-out method as per the protocol provided in the manufacturer's instructions. The <i>BRCA2</i> gene c.5946delT variant was detected using the PCR-RFLP technique. The data were analyzed using SPSS version 23. P≤ 0.05 was considered statistically significant.</p><p><strong>Results: </strong>In this study, we discovered that 2% of breast cancer patients had a c.5946delT pathogenic variant of the <i>BRCA2</i> gene. In addition, the results suggested that the c.5946delT pathogenic variant and age at diagnosis were significantly correlated. On the other hand, there was no significant association between inhabitance and family history for the c.5946delT variant.</p><p><strong>Conclusion: </strong>We have found out that breast cancer patients in the study area had the <i>BRCA2</i> gene variant c.5946delT, which suggests that this pathogenic variant is linked to breast cancer. Hence, assessing gene alterations using the PCR technique is one of the most effective early diagnostic strategies for breast cancer that should be used in hospitals in order to lower mortality.</p>","PeriodicalId":9106,"journal":{"name":"Breast Cancer : Targets and Therapy","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c2/0a/bctt-15-421.PMC10289093.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9716698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Re-Evaluating the Association Between Hormonal Contraception and Breast Cancer Risk.","authors":"Sanjana Satish,&nbsp;Jessica F Moore,&nbsp;Jay M Littlefield,&nbsp;Ian J Bishop,&nbsp;Kristin E Rojas","doi":"10.2147/BCTT.S390664","DOIUrl":"https://doi.org/10.2147/BCTT.S390664","url":null,"abstract":"<p><p>This review aims to summarize and assess key studies investigating the relationship between hormonal contraception and breast cancer risk. Approximately two-thirds of breast cancers express the estrogen receptor, and long-term exposure to estrogen is a debated risk factor for breast cancer development. This hypothesis is based on prior studies looking at reproductive risk factors (endogenous estrogen exposure) along with hormone replacement therapy (exogenous hormone exposure). Historically accepted reproductive risk factors include age at menarche, age at first delivery, and parity. Exogenous hormone exposure encompasses both receipt of hormonal contraception and menopausal hormone replacement therapy. This review highlights the reported risks associated with the most common hormonal contraception methods including oral, transdermal, and transvaginal routes. Large observational studies of the past and more recent works are summarized highlighting gaps in knowledge. Several themes emerge: difficulty accounting for well-established risk factors in analyses of epidemiologic studies, challenges determining whether associations between hormonal contraception and breast cancer are due to the exogenous hormones themselves or to increased engagement with the medical system, and discrepancies between statistically significant and clinically significant risk, odds, and hazard ratios. Understanding the strengths and limitations of these studies will help providers in and outside of oncology support women making decisions regarding both cancer risk-reduction and family planning.</p>","PeriodicalId":9106,"journal":{"name":"Breast Cancer : Targets and Therapy","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/31/04/bctt-15-227.PMC10040158.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9203399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is Breast Conserving Surgery Efficacious in Breast Cancer Patients with <i>BRCA1</i> or <i>BRCA2</i> Germline Mutation?","authors":"Selman Emiroglu,&nbsp;Enver Özkurt,&nbsp;Neslihan Cabıoglu,&nbsp;Abdullah Igci,&nbsp;Pinar Saip,&nbsp;Hulya Yazici,&nbsp;Tolga Ozmen,&nbsp;Vahit Ozmen,&nbsp;Mahmut Muslumanoglu,&nbsp;Mustafa Tukenmez","doi":"10.2147/BCTT.S395054","DOIUrl":"https://doi.org/10.2147/BCTT.S395054","url":null,"abstract":"<p><strong>Background: </strong>The optimal surgical therapy for newly diagnosed breast cancer with germline mutations in susceptibility genes is still uncertain for many physicians. In this study, we aimed to determine the efficacy of breast conserving surgery (BCS) in breast cancer patients with <i>BRCA1</i> or <i>BRCA2</i> mutation by assessing its outcomes and locoregional recurrence (LR) rates.</p><p><strong>Materials and methods: </strong>Seventy-five patients operated with BCS or mastectomy for breast cancer between 2006 and 2017 and had <i>BRCA1</i> or <i>BRCA2</i> mutation were included in the study. Effects of the performed breast surgery and clinicopathological characteristics on surgical outcomes, LR rates and survival were analyzed with showing the distribution of <i>BRCA1</i> and <i>BRCA2</i> germline mutations.</p><p><strong>Results: </strong>The median age of the patients was 42 years (20-77). <i>BRCA1</i> mutations were found in 46 (61.3%) patients and <i>BRCA2</i> mutations in 29 (38.7%) patients. Compared to <i>BRCA2</i> carriers, <i>BRCA1</i> carriers were more likely to have higher tumor grade (84.8% vs 44.8%; <i>p</i> = 0.001) and non-luminal subtype tumors (67.4% vs 13.8%; <i>p</i> = 0.001). A total of 44 (58.7%) patients underwent unilateral mastectomy and 31 (41.3%) patients underwent BCS. At a median follow-up time of 60 (12-240) months, LR was observed in 6 patients equally divided in both BCS and mastectomy groups. LR rates were slightly higher after BCS versus mastectomy (9.7% and 6.8%, respectively). Additionally, there were no statistically significant differences in disease-free survival (DFS) and disease-specific survival (DSS) rates after 10 years in the BCS group versus the mastectomy group (<i>p</i> = 0.117 and 0.109, respectively), but in fact, the rates were better in the BCS group.</p><p><strong>Conclusion: </strong>Our findings indicate that BCS may serve as an efficacious alternative to mastectomy for breast cancer patients with <i>BRCA1</i> or <i>BRCA2</i> mutation. Additionally, tumor size, lymph node positivity, and TNM stage should be taken into consideration for a better surgical decision-making.</p>","PeriodicalId":9106,"journal":{"name":"Breast Cancer : Targets and Therapy","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0d/85/bctt-15-163.PMC9960707.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9369047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Promoter Methylation-Regulated Differentially Expressed Genes in Breast Cancer.","authors":"Samar Sindi,&nbsp;Norah Hamdi,&nbsp;Sabah Hassan,&nbsp;Magdah Ganash,&nbsp;Mona Alharbi,&nbsp;Najla Alburae,&nbsp;Sheren Azhari,&nbsp;Shadi Alkhayyat,&nbsp;Ayman Linjawi,&nbsp;Heba Alkhatabi,&nbsp;Aisha Elaimi,&nbsp;Ghadeer Alrefaei,&nbsp;Nouf Alsubhi,&nbsp;Aziza Alrafiah,&nbsp;Safiah Alhazmi","doi":"10.2147/BCTT.S408711","DOIUrl":"https://doi.org/10.2147/BCTT.S408711","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer is one of the most common malignancies among women. Recent studies revealed that differentially methylated regions (DMRs) are implicated in regulating gene expression. The goal of this research was to determine which genes and pathways are dysregulated in breast cancer when their promoters are methylated in an abnormal way, leading to differential expression. Whole-genome bisulfite sequencing was applied to analyze DMRs for eight peripheral blood samples collected from five Saudi females diagnosed with stages I and II of breast cancer aligned with three normal females. Three of those patients and three normal samples were used to determine differentially expressed genes (DEG) using Illumina platform NovaSeq PE150.</p><p><strong>Results: </strong>Based on ontology (GO) and KEGG pathways, the analysis indicated that DMGs and DEG are closely related to associated processes, such as ubiquitin-protein transferase activity, ubiquitin-mediated proteolysis, and oxidative phosphorylation. The findings indicated a potentially significant association between global hypomethylation and breast cancer in Saudi patients. Our results revealed 81 differentially promoter-methylated and expressed genes. The most significant differentially methylated and expressed genes found in gene ontology (GO) are pumilio RNA binding family member 1 (<i>PUM1</i>) and zinc finger AN1-type containing 2B (<i>ZFAND2B</i>) also known as (<i>AIRAPL</i>).</p><p><strong>Conclusion: </strong>The essential outcomes of this study suggested that aberrant hypermethylation at crucial genes that have significant parts in the molecular pathways of breast cancer could be used as a potential prognostic biomarker for breast cancer.</p>","PeriodicalId":9106,"journal":{"name":"Breast Cancer : Targets and Therapy","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fa/e0/bctt-15-435.PMC10332364.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9814448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of the pCR Rate and DFS Among Breast Cancer Patients with Different Hormone Receptor and HER2 Statuses.","authors":"Yudi Jin,&nbsp;Ailin Lan,&nbsp;Yuran Dai,&nbsp;Linshan Jiang,&nbsp;Shengchun Liu","doi":"10.2147/BCTT.S407896","DOIUrl":"https://doi.org/10.2147/BCTT.S407896","url":null,"abstract":"<p><strong>Background: </strong>Recent studies have investigated the features of breast cancer (BC) with low human epidermal growth factor receptor 2 (HER2) expression or HER2-0 expression. However, the results were inconsistent. In this study, we investigated the differences in the pathological complete response (pCR) rate and disease-free survival (DFS) between HER2-low and HER2-0 BC patients and between subgroups.</p><p><strong>Methods: </strong>HER2-negative BC patients who received neoadjuvant chemotherapy between January 2013 and December 2019 in our hospital were retrospectively reviewed. First, the pCR rate and DFS were compared between HER2-low and HER2-0 patients and among different hormone receptor (HR) and HER2 statuses. Subsequently, DFS was compared between different HER2 status populations with or without pCR. Finally, a Cox regression model was used to identify the prognostic factors.</p><p><strong>Results: </strong>Overall, 693 patients were selected: 561 were HER2-low, and 132 were HER2-0. Between the two groups, there were significant differences in N stage (P = 0.008) and HR status (P = 0.007). No significant difference in the pCR rate (12.12% vs 14.39%, P = 0.468) or DFS was observed, independent of HR status. HR+/HER2-low patients had a significantly worse pCR rate (P < 0.001) and longer DFS (P < 0.001) than HR-/HER2-low or HER2-0 patients. In addition, a longer DFS was found in HER2-low patients versus HER2-0 patients among those who did not achieve pCR. Cox regression showed that N stage and HR status were prognostic factors in the overall and HER2-low populations, while no prognostic factor was found in the HER2-0 group.</p><p><strong>Conclusion: </strong>This study suggested that HER2 status is not associated with the pCR rate or DFS. Longer DFS was found only among patients who did not achieve pCR in the HER2-low versus HER2-0 population. We speculated that the interaction of HR and HER2 might have played a crucial role in this process.</p>","PeriodicalId":9106,"journal":{"name":"Breast Cancer : Targets and Therapy","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/08/38/bctt-15-327.PMC10162099.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9431853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}