NPJ Breast Cancer最新文献_第3页

Comprehensive genomic analysis of non-BRCA familial breast cancer in an Arab population. 阿拉伯人群非brca家族性乳腺癌的综合基因组分析。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2026-03-19 DOI: 10.1038/s41523-026-00926-z

Ehsan Ullah, Hikmat Abdel-Razeq, Sana Bentebbal, Abdullah Shaar, Nehad M Alajez, Mohamad Saad, Julie Decock

{"title":"Comprehensive genomic analysis of non-BRCA familial breast cancer in an Arab population.","authors":"Ehsan Ullah, Hikmat Abdel-Razeq, Sana Bentebbal, Abdullah Shaar, Nehad M Alajez, Mohamad Saad, Julie Decock","doi":"10.1038/s41523-026-00926-z","DOIUrl":"10.1038/s41523-026-00926-z","url":null,"abstract":"The Middle East and North African (MENA) region broadly mirrors global cancer trends, with breast cancer remaining the most common cancer among women. However, regional differences in germline BRCA1/2 mutation prevalence suggest the presence of additional genetic risk factors across MENA subgroups. We analyzed whole genome sequencing data from 180 non-BRCA familial breast cancer patients from Jordan and approximately 6000 healthy Arab controls to identify rare germline variants in cancer genes, and to evaluate the performance of existing breast cancer polygenic risk scores (PRS). Three loss-of-function variants in the high-penetrance breast cancer genes TP53 and PALB2 were exclusively observed in patients, including one TP53 variant of uncertain significance. Multiple pathogenic or likely pathogenic variants were detected in moderate-penetrance breast cancer genes, including ATM and BARD1, with ATM showing significant enrichment in gene burden analysis (OR = 14.84). Two rare loss-of-function variants in PASK and CHEK1, lacking clinical significance, were observed in multiple patients but not in controls. PRS assessment identified four PRSs with good discriminatory power (AUC > 0.690), with PGS003738 showing the highest performance (AUC = 0.702, top decile OR = 3.57). These findings highlight the need for population-specific genetic studies to improve breast cancer risk stratification in Arab populations.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":" ","pages":""},"PeriodicalIF":7.6,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13153266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147481198","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

POU1F1 induces cancer stem cell-like traits in breast cancer cells by IL-6/JAK2/STAT3 activation and enrichment of ALDH. POU1F1通过激活IL-6/JAK2/STAT3和富集ALDH诱导乳腺癌细胞的癌干细胞样性状。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2026-03-19 DOI: 10.1038/s41523-026-00929-w

Leandro Avila, Samuel Seoane, Sandra Rodriguez-Gonzalez, Magda Gois, Mª Efigenia Arias, David Martinez-Delgado, Noemi Gomez-Lado, Tomas Garcia-Caballero, Pablo Aguiar, Roman Perez-Fernandez

{"title":"POU1F1 induces cancer stem cell-like traits in breast cancer cells by IL-6/JAK2/STAT3 activation and enrichment of ALDH.","authors":"Leandro Avila, Samuel Seoane, Sandra Rodriguez-Gonzalez, Magda Gois, Mª Efigenia Arias, David Martinez-Delgado, Noemi Gomez-Lado, Tomas Garcia-Caballero, Pablo Aguiar, Roman Perez-Fernandez","doi":"10.1038/s41523-026-00929-w","DOIUrl":"https://doi.org/10.1038/s41523-026-00929-w","url":null,"abstract":"Breast cancer stem cells (BCSCs) have been proposed as the cause of resistance to conventional treatments and of breast cancer recurrence and metastasis. This study provides compelling evidence for the role of the transcription factor POU1F1 in the increase of BCSC-like. Using POU1F1-overexpressing and knock-down breast cancer cell lines, as well as immunodeficient mouse models, our data demonstrate that POU1F1 induces a BCSC-like phenotype in breast tumor cells by deregulating markers such as CD24, CD44, CD133, and ALDH. These phenotypic modifications correlate with functional changes, i.e., increased clonogenicity, mammosphere formation, and glycolysis. In addition, we found that a subpopulation of MCF-7 cells with overexpression of POU1F1 and elevated ALDH expression exhibits both a high tumor-initiating capacity and increased resistance to chemotherapy and radiotherapy treatments. Mechanistically, these features are mediated by POU1F1 activation of the IL-6/JAK2/STAT3 pathway and up-regulation of ALDH. Janus kinase inhibitors and monoclonal anti-IL6 receptor antibodies significantly decrease ALDH expression, colony, and mammosphere formation, suggesting possible use of pharmacological inhibitors of the IL-6/JAK2/STAT3 pathway in breast tumors with elevated POU1F1 levels.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":" ","pages":""},"PeriodicalIF":7.6,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147486870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification of racial disparities across MammaPrint and BluePrint subtypes in HR + HER2- breast cancer. HR + HER2-乳腺癌中MammaPrint和BluePrint亚型的种族差异鉴定

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2026-03-19 DOI: 10.1038/s41523-026-00932-1

Sonya Reid, Lindsay Venton, Jennifer G Whisenant, Anne E Weidner, Jennifer Wei, Harshini Ramaswamy, Christa Dreezen, Nicole Chmielewski-Stivers, Andrea R Menicucci, William Audeh, Tuya Pal

{"title":"Identification of racial disparities across MammaPrint and BluePrint subtypes in HR + HER2- breast cancer.","authors":"Sonya Reid, Lindsay Venton, Jennifer G Whisenant, Anne E Weidner, Jennifer Wei, Harshini Ramaswamy, Christa Dreezen, Nicole Chmielewski-Stivers, Andrea R Menicucci, William Audeh, Tuya Pal","doi":"10.1038/s41523-026-00932-1","DOIUrl":"10.1038/s41523-026-00932-1","url":null,"abstract":"We compared clinicopathologic features, MammaPrint and BluePrint molecular subtype, and outcomes by race among females with hormone receptor-positive (HR+), HER2- early-stage breast cancer (EBC). Of 1018 participants with HR+ HER2- EBC enrolled from two registries (BEST and FLEX), 509 White females were propensity score matched 1:1 to 509 Black females based on age and/or menopausal status. MammaPrint classified tumors as High-Risk or Low-Risk; and together with BluePrint, classified tumors as Luminal A-Type, Luminal B-Type, or Basal-Type. Recurrence-free survival (RFS) was analyzed by race and molecular subtype. Cox proportional hazards models assessed association of clinicopathologic features with outcomes. Basal-Type tumors were more prevalent among Black vs White participants (11.0% vs 4.8%, p < 0.001). Independent of race, participants with Basal-Type tumors had lower 3-year RFS (83.7%) compared to Luminal B-Type (93.7%) and Luminal A-Type (96.5%, p < 0.0001). Multivariate analysis revealed that participants with High-Risk, Luminal B- and Basal-Type tumors had significantly worse 3-year outcomes compared to Low-Risk Luminal A-Type, after controlling for race and potential confounders. Genomic classification identified higher proportions of High-Risk HR+ HER2- EBC among Black participants. Molecular subtype was independently prognostic of 3-year survival, supporting the prognostic and potentially predictive importance of genomic testing to reduce racial survival disparities among Black females with EBC.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":" ","pages":""},"PeriodicalIF":7.6,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13153423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147486796","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

Peri-lymphatic cytokines (IRX-2) as immunologic induction preceding neoadjuvant chemo-immunotherapy in triple-negative breast cancer. 淋巴细胞因子（IRX-2）在三阴性乳腺癌新辅助化疗免疫治疗前的免疫诱导作用。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2026-03-17 DOI: 10.1038/s41523-026-00925-0

Alan Su, Erin C Hong, Nicole Moxon, Staci L Mellinger, Tracy Kelly, Alison K Conlin, Zheng Zhu Topp, Philippa Newell, Nicole Fredrich, Kristen P Massimino, Yaping Wu, Maritza Martel, William L Redmond, Shaghayegh Aliabadi-Wahle, Zhaoyu Sun, James Imatani, Sasha E Stanton, Douglas A Hanes, Michael Simanonok, Wesley Rosales, Tyler J Nielsen, David B Page

引用次数: 0

Androgen receptor localisation and protein interactions provide insight into steroid mediated metabolic shifts in endocrine resistant breast cancer. 雄激素受体定位和蛋白质相互作用为内分泌抵抗性乳腺癌中类固醇介导的代谢变化提供了见解。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2026-03-17 DOI: 10.1038/s41523-026-00924-1

Rachel Bleach, Emir Bozkurt, Jingqi Xin, Katherine M Sheehan, Sally Shirran, Stephanie Agbana, Mihaela Ola, Leonie Young, Nicole S Spoelstra, Jennifer K Richer, Ana Cristina Vargas, Leonard D Goldstein, Heloisa H Milloli, Christine L Chaffer, Michael W O'Reilly, Jochen Hm Prehn, Marie McIlroy

{"title":"Androgen receptor localisation and protein interactions provide insight into steroid mediated metabolic shifts in endocrine resistant breast cancer.","authors":"Rachel Bleach, Emir Bozkurt, Jingqi Xin, Katherine M Sheehan, Sally Shirran, Stephanie Agbana, Mihaela Ola, Leonie Young, Nicole S Spoelstra, Jennifer K Richer, Ana Cristina Vargas, Leonard D Goldstein, Heloisa H Milloli, Christine L Chaffer, Michael W O'Reilly, Jochen Hm Prehn, Marie McIlroy","doi":"10.1038/s41523-026-00924-1","DOIUrl":"10.1038/s41523-026-00924-1","url":null,"abstract":"Aromatase inhibitors (AI) are standard therapy for hormone receptor-positive breast cancer in post-menopausal women, yet recurrence remains common. Our previous work suggests that an androgen‑dominated steroid environment may drive AI resistance. Although most androgen research has focused on classical genomic pathways in reproductive tissues, interest is growing in their non‑reproductive functions. In particular, the role of cytoplasmic AR has recently gained attention, and its connection to metabolic modulation remains largely unexplored in the context of breast cancer. Cytoplasmic AR was evaluated in a breast cancer microarray (n = 875), validated in an independent cohort (n = 30), and examined in metastatic biopsies (n = 12). LC‑MS/MS identified AR‑interacting proteins in AI‑resistant cells exposed to adrenal androgens, confirmed by co‑immunoprecipitation and imaging. High cytoplasmic AR predicted poor survival in post‑menopausal patients, especially luminal B cancers (p = 0.0085). AI‑resistant models showed diffuse AR localisation throughout the cytoplasm and nucleus accompanied by increased mitochondrial mass and membrane potential, and elevated oxidative phosphorylation and glycolysis. Label‑free mass spectrometry identified G3BP1, SLIRP and IGFBP5 as AR interactors linked to stress response, metabolic adaptation and ERα repression. The findings of this study highlight the prognostic potential of cytoplasmic AR immunoreactivity in specific breast cancer subtypes and uncover novel cytoplasmic AR protein interactions that may mediate metabolic adaptations during the development of endocrine-resistance.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":" ","pages":""},"PeriodicalIF":7.6,"publicationDate":"2026-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13144684/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147474414","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

Preclinical models of breast cancer metastasis: strengths, limitations, and clinical relevance. 乳腺癌转移的临床前模型：优势、局限性和临床相关性。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2026-03-14 DOI: 10.1038/s41523-026-00928-x

Patrick Aouad, Karim Halabi, Berthe Hayar, George Sflomos, Cathrin Brisken, Ciara Metcalfe, Nadine Darwiche

{"title":"Preclinical models of breast cancer metastasis: strengths, limitations, and clinical relevance.","authors":"Patrick Aouad, Karim Halabi, Berthe Hayar, George Sflomos, Cathrin Brisken, Ciara Metcalfe, Nadine Darwiche","doi":"10.1038/s41523-026-00928-x","DOIUrl":"https://doi.org/10.1038/s41523-026-00928-x","url":null,"abstract":"Breast cancer metastasis remains a leading cause of mortality. Animal models have been instrumental in dissecting the complex metastatic cascade and have provided insights into tumor progression and mechanisms of dissemination to distant organs. However, significant gaps remain, particularly in the context of a highly heterogeneous disease like breast cancer. This review summarizes animal models utilized to study breast cancer metastasis, including mutagen-induced and genetically engineered mouse models, cell line-based syngeneic and xenograft models, patient-derived xenografts, as well as rat and zebrafish models. We summarize the strengths and limitations of each model in recapitulating key stages of metastasis, including the onset of metastasis, organ-specific tropism, and tumor-microenvironment interactions. Additionally, we highlight the importance of these models in preclinical drug testing and personalized therapy. By providing a comprehensive overview, this review aims to guide researchers in choosing the most suitable preclinical breast cancer animal model to effectively address metastasis-related questions.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":" ","pages":""},"PeriodicalIF":7.6,"publicationDate":"2026-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147458884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

HIF-1-regulated TPM3 links hypoxia to motility and invasion beyond the hypoxic fraction in triple-negative breast cancer. hif -1调节的TPM3将缺氧与三阴性乳腺癌的运动和侵袭联系起来。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2026-03-14 DOI: 10.1038/s41523-026-00927-y

Chumin Zhou, Jack T Crusher, Kate Friesen, Sophie A Twigger, Eduard Petrosyan, Graham Booker, Priya Samuel, Eileen E Parkes, Ester M Hammond

{"title":"HIF-1-regulated TPM3 links hypoxia to motility and invasion beyond the hypoxic fraction in triple-negative breast cancer.","authors":"Chumin Zhou, Jack T Crusher, Kate Friesen, Sophie A Twigger, Eduard Petrosyan, Graham Booker, Priya Samuel, Eileen E Parkes, Ester M Hammond","doi":"10.1038/s41523-026-00927-y","DOIUrl":"10.1038/s41523-026-00927-y","url":null,"abstract":"Hypoxia is a defining feature of triple-negative breast cancer (TNBC), driving invasion, metastasis, and therapy resistance. Understanding the molecular effectors of hypoxia is essential to identify new therapeutic targets. Here, we investigated tropomyosin 3 (TPM3), an actin-binding protein that regulates filament stability. TPM3 is significantly upregulated in breast cancer, including in TNBC, where elevated levels correlate with poor overall survival. Using validated hypoxia signatures and TNBC cell models, we show that TPM3 is induced in physiologically relevant hypoxic conditions in a HIF-1-dependent manner. Both mRNA and protein levels of TPM3 increased in response to hypoxia, and TPM3 colocalised with F-actin, supporting cytoskeletal organisation. Functional assays demonstrated that depletion or inhibition of TPM3 impaired cell morphology, motility, and invasion in hypoxic TNBC cells, while not affecting viability. Notably, TPM3 inhibition synergised with Paclitaxel and Doxorubicin, enhancing therapeutic efficacy. In addition, TPM3 was incorporated into extracellular vesicles (EVs), with hypoxia increasing EV-mediated transfer of TPM3 to normoxic cells and promoting their motility. These findings establish TPM3 as a hypoxia-inducible, HIF-1-regulated effector of cytoskeletal dynamics and intercellular communication, underscoring its potential as a therapeutic target to limit TNBC aggressiveness and improve treatment outcomes.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":" ","pages":""},"PeriodicalIF":7.6,"publicationDate":"2026-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13133141/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147458818","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

The landscape of B and plasma cells in breast cancer: insights from single-cell and spatial transcriptomics. 乳腺癌中B细胞和浆细胞的景观：单细胞和空间转录组学的见解。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2026-03-12 DOI: 10.1038/s41523-026-00917-0

Xing Cai, Jinru Yang, Wenzheng Wang, Xiaolu Zhan, Xiaohan Chen, Dongchen Ji, Kexin Liu, Xue Li, Yuxin Zhang, Cheng Qian, Xiaofang Dai, Guang Yang, Tong Liu

{"title":"The landscape of B and plasma cells in breast cancer: insights from single-cell and spatial transcriptomics.","authors":"Xing Cai, Jinru Yang, Wenzheng Wang, Xiaolu Zhan, Xiaohan Chen, Dongchen Ji, Kexin Liu, Xue Li, Yuxin Zhang, Cheng Qian, Xiaofang Dai, Guang Yang, Tong Liu","doi":"10.1038/s41523-026-00917-0","DOIUrl":"10.1038/s41523-026-00917-0","url":null,"abstract":"Tumor-associated B (TAB) cells and plasma cells are increasingly recognized as key components of the tumor microenvironment; however, their heterogeneity and functional roles in breast cancer remain incompletely understood. Here, by integrating publicly available single-cell RNA (scRNA) sequencing datasets with newly generated scRNA-seq and single-cell BCR sequencing data from 79 samples across 35 patients, we constructed a comprehensive atlas of B and plasma cells in breast cancer. Systematic analyses of transcriptional profiles, clonal expansion, spatial distribution, and cell-cell interactions revealed 21 distinct subsets of TAB cells with substantial functional diversity. Among them, two tumor-enriched populations, CD200+ naïve B cells and ISG15+ atypical memory B cells, exhibited marked clonal expansion and activation signatures. Notably, CD200+ naïve B cells were closely associated with tertiary lymphoid structures, improved clinical outcomes, and enhanced responses to immune checkpoint blockade. Functional validation in multiple murine tumor models demonstrated that CD200+ B cells are essential for optimal anti-tumor immunity and critical for the efficacy of anti-PD-1 therapy. Together, our findings provide a high-resolution landscape of B and plasma cells in breast cancer and highlight CD200+ tumor-associated B cells as promising biomarkers and potential therapeutic targets to improve immunotherapy outcomes.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":" ","pages":""},"PeriodicalIF":7.6,"publicationDate":"2026-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13121808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147444257","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

Artificial intelligence assisted multi-model pathological diagnosis of breast cancer based on multispectral autofluorescence images. 基于多光谱自身荧光图像的人工智能辅助乳腺癌多模型病理诊断。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2026-03-12 DOI: 10.1038/s41523-026-00915-2

Jiahong Sun, Jianqiao Ye, Siyi Chen, Zitong Yang, Ge Xu, Yuanbo Xue, Zi Ou, Xingye Chen, Jiandong Wang

{"title":"Artificial intelligence assisted multi-model pathological diagnosis of breast cancer based on multispectral autofluorescence images.","authors":"Jiahong Sun, Jianqiao Ye, Siyi Chen, Zitong Yang, Ge Xu, Yuanbo Xue, Zi Ou, Xingye Chen, Jiandong Wang","doi":"10.1038/s41523-026-00915-2","DOIUrl":"10.1038/s41523-026-00915-2","url":null,"abstract":"Virtual staining technology offers a promising solution to overcome the time-consuming and sample-consumption nature of conventional histochemical staining in breast cancer pathology. This study presents a novel framework integrating multispectral autofluorescence imaging with an optimized deep learning architecture to generate high-fidelity, label-free, hematoxylin and eosin-equivalent images. We constructed a multimodal database containing clinical specimens, mouse models, and organoid co-cultures. By enhancing CycleGAN with saliency and global feature consistency losses, multispectral autofluorescence imaging-to-H&E virtual staining performance was significantly improved. This framework learns from unpaired datasets, eliminating the need for pixel-level registration. In blinded evaluations by five board-certified pathologists, 82.2% of virtual staining images achieved clinical scores comparable to conventional staining, with no statistical differences in key diagnostic indices. Moreover, this approach is non-destructive-the same tissue section remains intact for subsequent assays such as single-nucleus RNA sequencing or spatial transcriptomics, maximizing the utility of precious biopsy samples. In summary, this robust framework enables the rapid, non-destructive generation of diagnostic-grade breast cancer pathological images, making it a potential tool for clinical diagnostics and mechanistic studies across diverse biological systems.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":" ","pages":""},"PeriodicalIF":7.6,"publicationDate":"2026-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13121592/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147444341","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

RAD51-based homologous recombination deficiency is associated with treatment response and survival in early breast cancer. 基于rad51的同源重组缺陷与早期乳腺癌的治疗反应和生存相关。

IF 7.6 2区医学

NPJ Breast Cancer Pub Date : 2026-03-05 DOI: 10.1038/s41523-026-00920-5

Alba Llop-Guevara, Benedetta Pellegrino, Isabel Pimentel, Guillermo Villacampa, Cinzia Solinas, Sara Torres-Esquius, Nicoletta Campanini, Sara Simonetti, Chiara Tommasi, Olga Serra, Matilde Corianò, Daniela Boggiani, Maria Michiara, Roberta Minari, Beatrice Bortesi, Elena Rapacchi, Maria Vittoria Dieci, Matteo Lambertini, Gabriele Zoppoli, Alessio Schirone, Chiara Casarini, Elisabetta Cretella, Laura Cortesi, Enrico Maria Silini, Cristina Saura, Karen Willard-Gallo, Anais Boisson, Antonino Musolino, Violeta Serra, Judith Balmaña, Cristina Cruz

{"title":"RAD51-based homologous recombination deficiency is associated with treatment response and survival in early breast cancer.","authors":"Alba Llop-Guevara, Benedetta Pellegrino, Isabel Pimentel, Guillermo Villacampa, Cinzia Solinas, Sara Torres-Esquius, Nicoletta Campanini, Sara Simonetti, Chiara Tommasi, Olga Serra, Matilde Corianò, Daniela Boggiani, Maria Michiara, Roberta Minari, Beatrice Bortesi, Elena Rapacchi, Maria Vittoria Dieci, Matteo Lambertini, Gabriele Zoppoli, Alessio Schirone, Chiara Casarini, Elisabetta Cretella, Laura Cortesi, Enrico Maria Silini, Cristina Saura, Karen Willard-Gallo, Anais Boisson, Antonino Musolino, Violeta Serra, Judith Balmaña, Cristina Cruz","doi":"10.1038/s41523-026-00920-5","DOIUrl":"10.1038/s41523-026-00920-5","url":null,"abstract":"Advances in breast cancer (BC) therapy are limited by the absence of well-established biomarkers for DNA-damage targeted treatments. We evaluated the predictive and prognostic value of homologous recombination repair (HRR) deficiency (HRD) by RAD51 nuclear foci and stromal tumour-infiltrating lymphocytes (TILs) in early-stage BC patients with suspected germline susceptibility. Among 291 patients, HRD by RAD51 was found in 78.4% of tumours, and 69.8% had low TILs (<30%). In 178 patients treated with neoadjuvant chemotherapy, pathologic complete response (pCR) was higher in those with HRD vs HRR-proficient (HRP) tumours (52.3% vs 36.4%); RAD51 remained independently associated with pCR (p = 0.03). Overall survival (OS) favoured HRD, with 5-year OS of 89.2% vs 82.8% in HRP (p = 0.009), with stronger evidence in triple-negative TILs-low disease (p = 0.005). These findings support RAD51-based HRD assessment as a predictive and prognostic biomarker that may guide treatment decisions in early-stage BC.","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":" ","pages":""},"PeriodicalIF":7.6,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13079792/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147365608","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