NPJ Breast Cancer最新文献_第3页

Genomic landscapes of breast cancer in African populations: a systematic review. 非洲人群乳腺癌的基因组景观：系统回顾。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2025-08-14 DOI: 10.1038/s41523-025-00809-9

Nduta Mugo, Gianmarco Contino

{"title":"Genomic landscapes of breast cancer in African populations: a systematic review.","authors":"Nduta Mugo, Gianmarco Contino","doi":"10.1038/s41523-025-00809-9","DOIUrl":"10.1038/s41523-025-00809-9","url":null,"abstract":"Breast cancer in African women carries high mortality, yet genomic data from continental African cohorts are limited. We conducted a systematic review of next-generation sequencing based observational cohort studies of somatic breast cancer genomes in women of African ancestry, from January 2004 to September 2024. Extracted genomic features-driver mutations, copy-number alterations, structural-variants, tumour mutational burden and mutational signatures-were contrasted against TCGA's Black/African American and White reference cohorts. Ten studies from seven countries met inclusion criteria. Main findings were higher rate of triple-negative breast cancer, higher rate of TP53 and lower rate of PIK3CA mutations compared with TCGA White. African tumours also exhibited elevated TMB, CNA and SV burden. Mutational signatures revealed enriched homologous recombination deficiency and APOBEC activity. Despite small, heterogeneous cohorts and regional gaps, these distinct somatic landscapes suggest PARP, PI3K and immunotherapy targets. Coordinated sequencing efforts are urgently needed to drive precision oncology in Africa.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"11 1","pages":"91"},"PeriodicalIF":7.6,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12354838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144855895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Society-to-Cells approach to evaluating multilevel and interrelated drivers of breast cancer disparities in Black women. 从社会到细胞的方法来评估黑人妇女乳腺癌差异的多层次和相关驱动因素。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2025-08-13 DOI: 10.1038/s41523-025-00812-0

Maurade Gormley, Wayne R Lawrence, Jesse J Plascak, Electra D Paskett, Coral Omene, Adana A M Llanos

引用次数: 0

Integrated profiling of metaplastic breast cancer identifies putative master regulators of intratumoral heterogeneity. 化生性乳腺癌的综合分析确定了假定的肿瘤内异质性的主要调节因子。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2025-08-11 DOI: 10.1038/s41523-025-00807-x

Yufan Feng, Albert Xiong, Onkar Mulay, Anna Sokolova, Malcolm Lim, Benjamin Van Haeringen, Natasha McGuire, Xavier de Luca, Peter T Simpson, Quan Nguyen, Sunil R Lakhani, Amy E McCart Reed

{"title":"Integrated profiling of metaplastic breast cancer identifies putative master regulators of intratumoral heterogeneity.","authors":"Yufan Feng, Albert Xiong, Onkar Mulay, Anna Sokolova, Malcolm Lim, Benjamin Van Haeringen, Natasha McGuire, Xavier de Luca, Peter T Simpson, Quan Nguyen, Sunil R Lakhani, Amy E McCart Reed","doi":"10.1038/s41523-025-00807-x","DOIUrl":"10.1038/s41523-025-00807-x","url":null,"abstract":"Metaplastic breast cancer (MpBC) is defined by the presence of various morphological elements, typically biphasic, with epithelial (e.g. no-special type (NST), squamous) and mesenchymal (e.g. spindle, chondroid, osteoid) components. The established clonality of the different components favours an evolution model encompassing either a multipotent progenitor, or a linear metaplastic conversion. We used methylation profiling and showed that different morphologies have specific methylation profiles. Furthermore, our spatial transcriptomic approach, using 10× Genomics Visium and trajectory analysis, evidenced that spindle cells form a transition between the originating carcinoma of no-special type (NST) and pleomorphic regions, with osteoid differentiation likely to be an end-stage fate of the chondroid growth pattern, supporting the conversion model of lineage differentiation. We have also identified a series of master transcription factors likely to regulate these processes, and are significantly associated with metaplastic-like clinical features. This data further supports the conversion model of metaplasia and warrants functional analysis.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"11 1","pages":"89"},"PeriodicalIF":7.6,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12340010/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144822134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Supporting intraoperative margin assessment using deep learning for automatic tumour segmentation in breast lumpectomy micro-PET-CT. 支持基于深度学习的乳房肿瘤切除术显微pet - ct自动分割术中边缘评估。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2025-08-09 DOI: 10.1038/s41523-025-00797-w

Luna Maris, Menekse Göker, Kathia De Man, Bliede Van den Broeck, Sofie Van Hoecke, Koen Van de Vijver, Christian Vanhove, Vincent Keereman

{"title":"Supporting intraoperative margin assessment using deep learning for automatic tumour segmentation in breast lumpectomy micro-PET-CT.","authors":"Luna Maris, Menekse Göker, Kathia De Man, Bliede Van den Broeck, Sofie Van Hoecke, Koen Van de Vijver, Christian Vanhove, Vincent Keereman","doi":"10.1038/s41523-025-00797-w","DOIUrl":"10.1038/s41523-025-00797-w","url":null,"abstract":"Complete tumour removal is vital in curative breast cancer (BCa) surgery to prevent recurrence. Recently, [18F]FDG micro-PET-CT of lumpectomy specimens has shown promise for intraoperative margin assessment (IMA). To aid interpretation, we trained a 2D Residual U-Net to delineate invasive carcinoma of no special type in micro-PET-CT lumpectomy images. We collected 53 BCa lamella images from 19 patients with true histopathology-defined tumour segmentations. Group five-fold cross-validation yielded a dice similarity coefficient of 0.71 ± 0.20 for segmentation. Afterwards, an ensemble model was generated to segment tumours and predict margin status. Comparing predicted and true histopathological margin status in a separate set of 31 micro-PET-CT lumpectomy images of 31 patients achieved an F1 score of 84%, closely matching the mean performance of seven physicians who manually interpreted the same images. This model represents an important step towards a decision-support system that enhances micro-PET-CT-based IMA in BCa, facilitating its clinical adoption.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"11 1","pages":"88"},"PeriodicalIF":7.6,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12335567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144812144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2025-08-08 DOI: 10.1038/s41523-025-00806-y

Roshan Kumar, Susan Duyar-Ayerdi, Aishwarya Sundaresan, Vinodh Srinivasasainagendra, Chandra Sekhar Pedamallu, Michael Behring, Darshan Shimoga Chandrashekar, Isam-Eldin Eltoum, Sooryanarayana Varambally, Hemant K Tiwari, Sadeep Shrestha, Paul L Auer, Lubna N Chaudhary, John R Kirby, Clayton Yates, Upender Manne, Akinyemi I Ojesina

{"title":"Race-related host and microbe transcriptomic signatures in triple-negative breast cancer.","authors":"Roshan Kumar, Susan Duyar-Ayerdi, Aishwarya Sundaresan, Vinodh Srinivasasainagendra, Chandra Sekhar Pedamallu, Michael Behring, Darshan Shimoga Chandrashekar, Isam-Eldin Eltoum, Sooryanarayana Varambally, Hemant K Tiwari, Sadeep Shrestha, Paul L Auer, Lubna N Chaudhary, John R Kirby, Clayton Yates, Upender Manne, Akinyemi I Ojesina","doi":"10.1038/s41523-025-00806-y","DOIUrl":"10.1038/s41523-025-00806-y","url":null,"abstract":"Triple-negative breast cancer (TNBC) shows racial disparities, with higher incidence in women of African ancestry (AA) compared to European ancestry (EA). Meta-transcriptomic analysis of TNBC tumor tissues from AA (n = 17) and EA (n = 19) subjects revealed distinct microbial landscapes. Hierarchical clustering based on microbial transcripts separated samples into two groups predominantly defined by racial ancestry. Bacterial genera including Hafnia and Cedecea were more abundant in AA tumors, while Erwinia was higher in EA tumors. Cellular composition analysis by xCell revealed differences in immune cell populations, with AA tumors having higher Th1 cell abundance and EA tumors containing higher macrophage M2 cell abundance. Nonetheless, AA women with high M2 abundance experienced poorer disease-free survival (DFS) than EA women. Integrative analyses revealed that high expression of human SPDYE2B gene was associated with Hafnia abundance and decreased DFS, highlighting complex host-microbe interactions in TNBC patients.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"11 1","pages":"87"},"PeriodicalIF":7.6,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12334597/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144804380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical impact of single-gene vs. panel sequencing in advanced HR + /HER2- breast cancer: insights and implications. 单基因与小组测序在晚期HR + /HER2-乳腺癌中的临床影响：见解和意义

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2025-08-07 DOI: 10.1038/s41523-025-00805-z

Eva Valentina Klocker, Nina Dobrić, Ricarda Graf, Christine Beichler, Dominik Hlauschek, Christoph Suppan, Lara Pancheri, Daniel Egle, Carmen Albertini, Rupert Bartsch, Angelika Martina Starzer, Philipp Jakob Jost, Gabriel Rinnerthaler, Ellen Heitzer, Nadia Dandachi, Marija Balic

{"title":"Clinical impact of single-gene vs. panel sequencing in advanced HR + /HER2- breast cancer: insights and implications.","authors":"Eva Valentina Klocker, Nina Dobrić, Ricarda Graf, Christine Beichler, Dominik Hlauschek, Christoph Suppan, Lara Pancheri, Daniel Egle, Carmen Albertini, Rupert Bartsch, Angelika Martina Starzer, Philipp Jakob Jost, Gabriel Rinnerthaler, Ellen Heitzer, Nadia Dandachi, Marija Balic","doi":"10.1038/s41523-025-00805-z","DOIUrl":"10.1038/s41523-025-00805-z","url":null,"abstract":"Hormone receptor-positive (HR + )/HER2-negative (HER2 - ) breast cancer is the most common subtype, with biomarker-driven therapies improving outcomes. Circulating tumor DNA (ctDNA) analysis enables minimally invasive assessment of somatic alterations to guide therapy. However, assay choice impacts clinical utility, and access remains inconsistent. This study compares single-gene and panel-based sequencing for assessing PIK3CA mutations and broader genomic profiling. We conducted a prospective, multicenter study analyzing 161 plasma samples from 146 patients before initiating a new line of palliative therapy using the SiMSen-Seq (SSS) assay for PIK3CA hotspot mutations, the AVENIO ctDNA Expanded assay (77 genes) and mFAST-SeqS for tumor fraction estimation. High concordance (92.6%) was observed between SSS and AVENIO for PIK3CA mutations. AVENIO identified additional actionable alterations, including ESR1 (17.5%) and PI3K pathway alterations (40.6%), and together with tumor fraction estimation, improved interpretation of negative liquid biopsy findings. These findings support broader ctDNA profiling in clinical practice while highlighting accessibility challenges.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"11 1","pages":"86"},"PeriodicalIF":7.6,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12331942/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144799746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Associations between social drivers of health and breast cancer stage at diagnosis among U.S. Black women. 美国黑人妇女中健康的社会驱动因素与乳腺癌诊断阶段之间的关系。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2025-08-06 DOI: 10.1038/s41523-025-00804-0

Mollie E Barnard, Bo Qin, Marc A Emerson, Etienne X Holder, Matthew R Dunn, Shromona Sarkar, Nuo N Xu, Yutong Li, Christine B Ambrosone, Elisa V Bandera, Julie R Palmer, Melissa A Troester, Terry Hyslop

{"title":"Associations between social drivers of health and breast cancer stage at diagnosis among U.S. Black women.","authors":"Mollie E Barnard, Bo Qin, Marc A Emerson, Etienne X Holder, Matthew R Dunn, Shromona Sarkar, Nuo N Xu, Yutong Li, Christine B Ambrosone, Elisa V Bandera, Julie R Palmer, Melissa A Troester, Terry Hyslop","doi":"10.1038/s41523-025-00804-0","DOIUrl":"10.1038/s41523-025-00804-0","url":null,"abstract":"U.S. Black women have disproportionately high breast cancer mortality, partly due to later-stage diagnoses. We examined how social drivers of health (SDOH) relate to stage at diagnosis by analyzing data from 4,995 breast cancer survivors in the Black Women's Health Study, Carolina Breast Cancer Study, and Women's Circle of Health Studies. SDOH were self-reported and stage was ascertained from medical records. We used polytomous logistic regression to estimate odds ratios (ORs) for diagnosis at stages III/IV or II versus stage I (referent), adjusting for age, insurance status, and income. Meta-analyzed results indicated that underutilization of screening mammography (OR = 3.21, 95% CI 1.90-5.43) and income below the federal poverty line (OR = 1.91, 95% CI 1.17-3.10) were significantly associated with later stage diagnosis (III/IV). ORs for lack of insurance and lower education were above 1.0, but not consistently statistically significant. These findings substantiate the importance of the affordability and utilization of breast cancer screening.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"11 1","pages":"85"},"PeriodicalIF":7.6,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12328792/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144794970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Radiation therapy as a biological modifier of the breast cancer immune microenvironment. 放射治疗作为乳腺癌免疫微环境的生物学调节剂。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2025-08-01 DOI: 10.1038/s41523-025-00801-3

Lorenzo Galluzzi, Lukas Bolini, Rebecca M Shulman

引用次数: 0

Selection biases in the systematic collection of breast biobank specimens. 乳腺生物库标本系统采集中的选择偏差。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2025-08-01 DOI: 10.1038/s41523-025-00798-9

Yael Bar, Gary X Wang, Gabrielle E Gioia, Geoffrey Fell, Shinn-Huey S Chou, Veerle Bossuyt, Steven J Isakoff, Beverly Moy, Leif W Ellisen, Constance D Lehman, Laura M Spring

{"title":"Selection biases in the systematic collection of breast biobank specimens.","authors":"Yael Bar, Gary X Wang, Gabrielle E Gioia, Geoffrey Fell, Shinn-Huey S Chou, Veerle Bossuyt, Steven J Isakoff, Beverly Moy, Leif W Ellisen, Constance D Lehman, Laura M Spring","doi":"10.1038/s41523-025-00798-9","DOIUrl":"10.1038/s41523-025-00798-9","url":null,"abstract":"A breast biopsy tissue biobank is a valuable resource for studying breast cancer biology and treatment response. However, underrepresentation of certain patient populations in biobanks limits the generalizability of findings. We assessed potential disparities in the recruitment process for an institutional breast biopsy tissue bank. Ultrasound-guided (USG) research biopsy cores were collected immediately after routine clinical biopsy from January 2019 to October 2022 at a large academic center. Eligible patients (age > 18, with a mass > 0.5 cm), identified by a research associate on the day of the biopsy, were invited to participate at the discretion of the radiologist performing the biopsy. Those approached either consented or declined a research biopsy. 2449 patients underwent USG breast biopsy and 1309 were deemed eligible for a research biopsy. Of the eligible population, 886 (67.7%) were approached for participation, and 423 (32.3%) were not. Of those approached, 564 (63.7%) consented for a research biopsy, while 322 (36.3%) declined. Patients older than 70 years of age and patients who both used a primary language other than English and had non-commercial health insurance were less likely to be approached for biobank participation (p = 0.01 and p = 0.002, respectively). Among those approached, non-Hispanic White patients were more likely to provide their consent compared to patients from other racial and ethnic groups (p = 0.014). Among these groups, non-Hispanic Black patients were particularly less likely to consent to a research biopsy (p = 0.005). Our findings highlight the need for targeted interventions to increase participation across diverse patient subgroups.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"11 1","pages":"83"},"PeriodicalIF":7.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12316912/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144765108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Single-cell transcriptomics reveals biomarker heterogeneity linked to CDK4/6 Inhibitor resistance in breast cancer cell lines. 单细胞转录组学揭示了乳腺癌细胞系中与CDK4/6抑制剂耐药性相关的生物标志物异质性。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2025-07-31 DOI: 10.1038/s41523-025-00803-1

Ilenia Migliaccio, Martina Bonechi, Dario Romagnoli, Giulia Boccalini, Francesca Galardi, Cristina Guarducci, Agostina Nardone, Rachel Schiff, Laura Biganzoli, Luca Malorni, Matteo Benelli

{"title":"Single-cell transcriptomics reveals biomarker heterogeneity linked to CDK4/6 Inhibitor resistance in breast cancer cell lines.","authors":"Ilenia Migliaccio, Martina Bonechi, Dario Romagnoli, Giulia Boccalini, Francesca Galardi, Cristina Guarducci, Agostina Nardone, Rachel Schiff, Laura Biganzoli, Luca Malorni, Matteo Benelli","doi":"10.1038/s41523-025-00803-1","DOIUrl":"10.1038/s41523-025-00803-1","url":null,"abstract":"Cyclin dependent kinases 4 and 6 inhibitors have brought great improvements in the treatment of luminal breast cancer, but resistance is a major clinical hurdle. Multiple biomarkers of resistance have been proposed, but none is currently utilized in clinical practice. By performing single-cell RNA sequencing of seven palbociclib-naïve luminal breast cancer cell lines and palbociclib-resistant derivatives, we show that established biomarkers and pathways related to CDK4/6i resistance present marked intra- and inter- cell-line heterogeneity. Transcriptional features of resistance could be already observed in naïve cells correlating with levels of sensitivity (IC50) to palbociclib. Resistant derivatives showed transcriptional clusters that significantly varied for proliferative, estrogen response signatures or MYC targets. This marked heterogeneity was validated in the FELINE trial where, compared to the sensitive ones, ribociclib-resistant tumors developed higher clonal diversity at genetic level and showed greater trascriptional variability for genes associated with resistance. A potential signature of resistance inferred from the cell-line models, positively enriched for MYC targets and negatively enriched for estrogen response markers, was probed on the FELINE trial, separating sensitive from resistant tumors and revealing higher heterogeneity in resistant versus sensitive cells. These data suggest that heterogeneity for CDK4/6 inhibitors resistant markers might facilitate the development of resistance and challenge the validation of clinical biomarkers.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"11 1","pages":"82"},"PeriodicalIF":7.6,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12311131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144753918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0