BJC reports最新文献

{"title":"Disparities in blood cancer survival in the UK 2009-2019: national cohort studies.","authors":"Janice Hoang, Joshua Allen, Rebecca Capel, Rebecca Thomas, Stephanie Smits, Rubina Ahmed, Hilary Webb, Aziz Sheikh, Sally Cox, Ceri Bygrave, Julia Hippisley-Cox","doi":"10.1038/s44276-026-00222-0","DOIUrl":"10.1038/s44276-026-00222-0","url":null,"abstract":"<p><strong>Abstarct: </strong>BACKGROUND: Blood cancers are among the most common and deadliest in the UK, affecting over 40,000 people annually. Survival varies by subtype, but this is not routinely reported for the UK. This study estimated survival for haematological malignancies in the UK stratified by time period, age, sex, ethnicity, deprivation, and rurality.</p><p><strong>Methods: </strong>Four retrospective cohorts of patients aged 15-99 diagnosed with haematological malignancies (2009-2019) across UK cancer registries were used to estimate 1-, 5-, and 10-year net survival by subtype.</p><p><strong>Results: </strong>We identified 413,286 blood cancer cases. Survival in all blood cancer combined significantly improved in England (3.8%), Northern Ireland (5.1%), and Wales (3%), but not Scotland. Men had ≥3% lower survival than women in many subtypes. Older age and higher deprivation were significantly linked to lower survival. In England, white ethnic groups had ≥3% lower survival than non-white groups for myelodysplastic syndrome, myeloid malignancies, plasma cell neoplasms, myeloproliferative neoplasms. In Wales, rural areas showed ≥3% higher survival than urban and mixed regions for lymphoid malignancies, myeloid malignancies, plasma cell neoplasms, Hodgkin lymphoma, mature B-cell neoplasms, acute myeloid leukaemia.</p><p><strong>Conclusion: </strong>Net survival varied markedly by subtype and demographic factors across the UK. Given possible differences in case ascertainment, findings are descriptive and hypothesis‑generating.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13083837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147694705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Remarkable response of metaplastic breast cancer to a novel targeted AKT inhibitor TAS-117 in a Cowden syndrome patient: a case report.","authors":"Eva Godina, Marta Fernández Carcaño, Burak Uzunparmak, Thomas Pepper, Pooja Shah, Jordi Rodon","doi":"10.1038/s44276-026-00216-y","DOIUrl":"10.1038/s44276-026-00216-y","url":null,"abstract":"<p><p>PTEN hamartoma tumour syndrome (PHTS) is characterized by a germline PTEN mutation and a substantial increase in lifetime breast cancer risk to 85% with lower age at first diagnosis. Despite the availability of agents targeting PTEN-regulated PI3K/AKT/mTOR pathway, there are currently no approved treatments for PHTS patients with cancer. This is the first report of a patient with triple-negative metaplastic breast cancer and PHTS in the literature. We present an exceptional response of this aggressive stage IV tumour in a 34-year-old woman with PHTS to treatment with the novel AKT1-3 inhibitor, TAS-117. Despite previous rapid progression and resistance to multi-agent chemotherapy and radiotherapy, disease stabilisation was ongoing at 3.8 years. Cell-free DNA analysis of blood samples at baseline and during treatment with TAS-117 revealed a complete marker response to treatment. Therapy has been well tolerated, and the patient continues the therapy without severe adverse events, dose reduction, or treatment interruptions. These findings support further investigation of targeted interventions for malignancies developing in the context of PHTS.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13083980/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147694633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High expression of the ADC target Claudin-6 associates with aggressive endometrial cancer and remains high in metastatic lesions.","authors":"Vilde Linnea Gullovsen, Daniela Pavlicenco, Marta E Hjelmeland, Kathrine Woie, Ingfrid S Haldorsen, Jone Trovik, Hege F Berg, Camilla Krakstad","doi":"10.1038/s44276-026-00225-x","DOIUrl":"10.1038/s44276-026-00225-x","url":null,"abstract":"<p><strong>Background: </strong>Patients with advanced or recurrent endometrial cancer (EC) have limited treatment options. The development of antibody-drug conjugates (ADCs) offers new treatment strategies by targeted delivery of cytotoxic payloads, including conventional chemotherapy, to cancer cells. An ADC targeting Claudin-6 is currently in clinical testing however expression patterns of Claudin-6 has not been thoroughly explored in EC.</p><p><strong>Methods: </strong>Membrane expression of Claudin-6 was evaluated by immunohistochemistry in a large, prospectively collected EC cohort with 1106 primary tumours and 187 metastatic lesions. Claudin-6 expression was scored according to the Gastric criteria and correlated with clinicopathological characteristics and follow-up data.</p><p><strong>Results: </strong>Claudin-6 expression was detected in 18% of ECs and was highly expressed in 10% of all samples. High expression was observed in 49% of serous tumours and 22% of carcinosarcomas. High Claudin-6 independently predicted poor disease-specific survival in multivariate analysis (HR: 1.7, CI: 1.2-2.4, p = 0.002). In the paired primary-metastasis cohort, Claudin-6 was highly expressed in 19% of primary tumours and, of these, 77% maintained high expression in at least one corresponding metastatic lesion.</p><p><strong>Conclusions: </strong>Our study identified Claudin-6 as an independent prognostic marker in EC and as a potential target for ADCs, particularly in serous and carcinosarcoma subtypes.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13083938/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147694682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A comprehensive genomic framework for identifying genes predisposing to homologous recombination repair-deficient breast or ovarian cancer.","authors":"José Camacho-Valenzuela, Thibaut Matis, Carla Roca, Jorge Luis Cuamatzi Flores, Nancy Hamel, Barbara Rivera, Simon Gravel, Paz Polak, Carla Daniela Robles-Espinoza, William D Foulkes","doi":"10.1038/s44276-026-00218-w","DOIUrl":"10.1038/s44276-026-00218-w","url":null,"abstract":"<p><strong>Background: </strong>Patients with clinical characteristics of increased cancer susceptibility without an identified genetic lesion are regularly seen in clinics. Association studies and matched normal/tumour sequencing have advanced the discovery of Cancer Susceptibility Genes (CSGs), with limitations when used independently. We reasoned that combining these strategies alongside mutational signatures and clinical data could improve CSGs identification.</p><p><strong>Methods: </strong>Using breast and ovarian cancer exome data from The Cancer Genome Atlas (TCGA-BRCA and TCGA-OV), we developed a genomic framework that evaluates exome-wide associations of Germline Pathogenic Variants (GPVs) harbouring second hits with Homologous Recombination Repair Deficiency (HRD) mutational signatures (HRDSig) to identify novel HRD-related CSGs. This is complemented by clinico-genomic analysis evaluating clinical and biological plausibility.</p><p><strong>Results: </strong>Our framework confirmed significant associations with HRDSig of BRCA1/2 GPVs with second hits in both TCGA cohorts, validating its performance. THBS4 also reached significance but only co-occurred with other HRD-related events in TCGA-BRCA. Borderline significance was also observed for KIF13B and TESPA1, also only in TCGA-BRCA. The clinico-genomics approach further identified KIF13B and TESPA1, as well as RAD51B and other Fanconi Anaemia pathway-related genes, including FANCD2, warranting further validation.</p><p><strong>Conclusions: </strong>Our approach provides a framework for the identification of candidate HRD-related CSGs through combined statistical and clinico-genomics analyses. It is adaptable to other mutational signatures/cancer types and will be most effective when applied to larger and well-annotated datasets.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13062105/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147641089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial: focus on the COMET trial.","authors":"Steven A Narod","doi":"10.1038/s44276-026-00223-z","DOIUrl":"10.1038/s44276-026-00223-z","url":null,"abstract":"","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13061916/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147641061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Cosegregation analysis following an excellent response to olaparib in a pancreatic cancer patient carrier of BRCA2:c.7892 T > C variant enables its reclassification from VUS to pathogenic.","authors":"Ksenija Strojnik, Ana Blatnik, Mateja Krajc, Aleksander Novaković, Marija Ignjatović, Janja Ocvirk, Vida Stegel, Petra Škerl, Gašper Klančar, Srdjan Novaković, Vita Šetrajčič Dragoš","doi":"10.1038/s44276-026-00217-x","DOIUrl":"10.1038/s44276-026-00217-x","url":null,"abstract":"","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13046848/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147611418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Commentary: With Regards to the WISDOM trial.","authors":"Steven A Narod","doi":"10.1038/s44276-026-00210-4","DOIUrl":"10.1038/s44276-026-00210-4","url":null,"abstract":"","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13009227/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147506045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Obesity-associated gene mutations across cancer types: a pan-cancer analysis of TCGA data.","authors":"Gaetana Porcelli, Rosario Nicola Brancaccio, Sebastiano Di Bella, Caterina D'Accardo, Francesco Orilio, Vincenzo Davide Pantina, Chiara Modica, Francesco Verona, Paola Bianca, Cesare Morgante, Simone Di Franco, Miriam Gaggianesi, Veronica Veschi, Giorgio Stassi, Alice Turdo, Matilde Todaro","doi":"10.1038/s44276-026-00214-0","DOIUrl":"10.1038/s44276-026-00214-0","url":null,"abstract":"<p><strong>Background: </strong>Obesity is a recognized risk factor for numerous cancers. Although several biological mechanisms have been proposed to explain obesity-associated carcinogenesis, the extent to which excess adiposity influences tumor genomic profiles remains incompletely understood. In particular, whether obesity-related selective pressures shape cancer-specific mutational landscapes is still underexplored.</p><p><strong>Methods: </strong>A pan-cancer analysis of non-synonymous somatic mutations across 14 tumor types using data from The Cancer Genome Atlas (TCGA) has been conducted. Body mass index (BMI) at diagnosis was analyzed as a continuous variable. Associations between gene mutations and BMI were assessed using logistic regression models adjusted for age, sex, and tumor mutational burden, with false discovery rate correction. Genes were prioritized using a two-step ranking strategy based on mutation frequency and regression strength. Functional inactivation, exon-level mutation distribution, and Gene Ontology enrichment analyses were performed for significantly BMI-associated genes.</p><p><strong>Results: </strong>In particular, bladder urothelial cancer (BLCA) resulted as the most frequently mutated neoplasia in association with higher body mass index. Among Eighty-six genes significantly associated with BMI in BLCA, a prioritized set of ten genes (BRCA2, DNAH9, GRIA4, PLXNA4, UNC13C, FCGBP, SF3B1, ELP1, NES, TRERF1) has been selected for further analyses. Overweight and obese patients exhibited distinct BMI-specific exon-level mutational patterns and concurrent deleterious mutations across multiple candidate genes. Functional inactivation analysis suggested loss-of-function mechanisms in most top-ranked genes, while Gene Ontology (GO) analysis highlighted deregulation of extracellular matrix-related pathways.</p><p><strong>Discussion: </strong>These findings support a role for obesity in shaping the genomic landscape of tumors, highlighting the importance of integrating clinical parameters such as BMI into genomic studies to determine the potential impact of obesity on tumor evolution, heterogeneity, and treatment response.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13009199/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147506005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"IL10RB expression in cancer cells is associated with evolutionary changes to solidify treatment resistance.","authors":"Chie Kudo-Saito, Hiroki Ozawa, Hiroshi Imazeki, Hitomi Masuda, Aki Takaiwa, Masayoshi Toyoura","doi":"10.1038/s44276-026-00211-3","DOIUrl":"10.1038/s44276-026-00211-3","url":null,"abstract":"<p><strong>Background: </strong>Many molecular mechanisms underlying tumor escape, in which cancer cells undergo epithelial-to-mesenchymal transition (EMT) and thereby acquire metastatic potential and cancer stemness, have been reported. However, cancer metastasis and treatment resistance remain unconquerable for many cancer patients, probably due to diverse evolutionary changes in cancer cells.</p><p><strong>Methods: </strong>Gene expressions in cancer cells with/without EMT-governing snail overexpression were compared using GeneChip microarray, and a gene was identified that was significantly increased with snail expression. The molecular functions were analyzed in vitro and in vivo using cancer cells overexpressing the identified gene, and the therapeutic efficacy induced by blocking the molecule was evaluated using mouse tumor models.</p><p><strong>Results: </strong>Snail expression dramatically enhanced IL10RB expression in cancer cells, and IL10RB overexpression in cancer cells enhanced cellular adhesion, invasiveness, and chemoresistance. Treatment with anti-IL10RB blocking mAb attenuated such refractory properties of the IL10RB⁺ tumor cells, and induced potent anti-tumor immunity in mouse tumor models. Combining anti-IL10RB and anti-PD1 therapy has a synergistic effect on tumor disappearance and improved prognosis.</p><p><strong>Conclusion: </strong>This study revealed that IL10RB is a key molecule in cancer intractability after achieving snail-induced EMT. Targeting IL10RB may be a promising strategy for improving clinical outcomes in the treatment of cancer.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12988042/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147461395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Understanding the preferences of younger women for the delivery of a service to predict breast cancer risk: a discrete choice experiment.","authors":"Stuart J Wright, Shabnam Thapa, Amber Salisbury, Sarah Hindmarch, David P French, Sacha J Howell, Katherine Payne","doi":"10.1038/s44276-026-00209-x","DOIUrl":"10.1038/s44276-026-00209-x","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to understand the preferences of a sample of younger women (30-39 years) for the attributes of models of service delivery for a breast cancer risk-prediction service to identify how best to design a service to optimise uptake.</p><p><strong>Methods: </strong>A discrete choice experiment was used to quantify the preferences of a purposive sample of younger women (aged 30-39) without prior knowledge of their risk of developing breast cancer. Respondents chose from a series of questions including two unlabelled alternatives, representing different models of a risk-prediction service, and an opt-out alternative. Data were analysed using random parameter logit and latent class models to explore potential heterogeneity in preferences for the intervention.</p><p><strong>Results: </strong>The predicted uptake for a risk-prediction service ranged from 77 to 89%. Participants preferred a service with more flexible appointments which could be booked by the individual themselves. Latent class analysis suggested that around 7% of women would never have their risk predicted and for approximately 30% of women the choice would depend on the design of the service.</p><p><strong>Conclusion: </strong>Younger women would be likely to choose to have their breast cancer risk predicted, although some groups were sensitive to the design of the prediction service.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12987935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147461408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}