NPJ Breast Cancer最新文献

{"title":"Differential effects of desvenlafaxine on hot flashes in women with breast cancer taking tamoxifen: a randomized controlled trial.","authors":"Yongjoo Kim, Chan-Woo Yeom, Hyun Jeong Lee, Jeong-Hyun Kim, Kwang-Min Lee, Tae-Yong Kim, Han-Byoel Lee, Hoon Kim, Seock-Ah Im, Kyung-Hun Lee, Miso Kim, Wonsik Han, Hyeong-Gon Moon, David Spiegel, Bong-Jin Hahm, Kyung-Lak Son","doi":"10.1038/s41523-024-00668-w","DOIUrl":"10.1038/s41523-024-00668-w","url":null,"abstract":"<p><p>Hot flashes (HF) are a common adverse event of prolonged tamoxifen use in women with estrogen receptor-positive breast cancer, impacting psychiatric health and quality of life. While desvenlafaxine does not interact with tamoxifen, its efficacy and safety in breast cancer patients remain unstudied. This phase 3, four-week, multi-center, three-arm, parallel-group, randomized, double-blind, placebo-controlled trial investigated the efficacy and safety of desvenlafaxine for treating HF in women with breast cancer taking tamoxifen, assessing potential differential effects in patients with psychiatric and inflammatory conditions. Between December 2017 and February 2019, 57 women aged 19 or older, regularly taking tamoxifen as adjuvant therapy, experiencing moderate-to-severe HFs for more than a month, were randomized to receive desvenlafaxine 50 mg/day (D-50), desvenlafaxine 100 mg/day (D-100), or placebo for four weeks. The primary endpoint was the change rate in HF scores over four weeks, with adverse events as a secondary endpoint. Both desvenlafaxine arms demonstrated greater HF score reductions compared to placebo: D-50 (2.20 points/week, 95% CI: 0.71, 3.68) and D-100 (2.34 points/week, 95% CI: 0.92, 3.76). Notably, D-50 arm showed significantly greater efficacy in patients with depression or elevated inflammation. Desvenlafaxine offers an effective and safe treatment regimen for HF in women with breast cancer taking tamoxifen. The presence of depression and inflammation may guide optimal desvenlafaxine dosing. (Trial Registration: ClinicalTrials.gov Identifier: NCT02819921).</p>","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"10 1","pages":"59"},"PeriodicalIF":6.5,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11255222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141634093","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}

{"title":"Clinical impact of drug-drug interactions on abemaciclib in the real-world experience of AB-ITALY study.","authors":"Simone Scagnoli, Simona Pisegna, Angela Toss, Roberta Caputo, Michelino De Laurentiis, Michela Palleschi, Ugo de Giorgi, Enrico Cortesi, Agnese Fabbri, Alessandra Fabi, Ida Paris, Armando Orlandi, Giuseppe Curigliano, Carmen Criscitiello, Ornella Garrone, Gianluca Tomasello, Giuliana D'Auria, Patrizia Vici, Enrico Ricevuto, Federica Domati, Claudia Piombino, Sara Parola, Roberta Scafetta, Alessio Cirillo, Beatrice Taurelli Salimbeni, Francesca Sofia Di Lisa, Lidia Strigari, Robert Preissner, Maurizio Simmaco, Daniele Santini, Paolo Marchetti, Andrea Botticelli","doi":"10.1038/s41523-024-00657-z","DOIUrl":"10.1038/s41523-024-00657-z","url":null,"abstract":"<p><p>Abemaciclib demonstrated clinical benefit in women affected by HR+/HER2- advanced breast cancer (aBC). Drug-drug interactions (DDIs) can lead to reduced treatment efficacy or increased toxicity. This retro-prospective study aimed to evaluate outcomes, DDIs' impact, and toxicities of abemaciclib combined with endocrine therapy in a real-world setting. Patients from 12 referral Italian hospitals with HR+/HER2- aBC who received abemaciclib were included. Clinical data about comorbidities, concurrent medications, outcomes, and adverse events (AE) were collected. Drug-PIN® (Personalized Interactions Network) is a tool recognizing the role of multiple interactions between active and/or pro-drug forms combined with biochemical and demographic patient data. The software was used to define the Drug-PIN score and Drug-PIN tier (green, yellow, dark yellow, and red) for each patient. Univariate and multivariate analyses were performed to identify predictors of patients' PFS or toxicity. One hundred seventy-three patients were included. 13% of patients had >75years. The overall response rate (ORR) was 63%. The general population's median PFS (mPFS) was 22 months (mo), while mOS were not reached. Patients treated with abemaciclib in combination with AI and fulvestrant had a mPFS of 36 and 19 mo, respectively. The most common toxicities were diarrhea, asthenia, and neutropenia detected in 63%,49%, and 49% of patients. The number of concomitant medications and comorbidities were not associated with survival outcomes (22 vs 17 mo, p = 0.068, p = 0.99). Drug-PIN tier from dark yellow to red and Drug-PIN score >12 were associated with shorter PFS compared to no/low-risk DDIs and score <12 (15 vs 23, p = 0.005, p = 0.0017). Drug interaction was confirmed as an independent biomarker in a multivariate model (p = 0.02). No difference in any grade AE, severe toxicities, and diarrhea were detected among different age subgroups. No association was found between Drug-PIN score or Drug-PIN tier and overall toxicity (p = 0.44), severe AEs (p = 0.11), or drug reduction (p = 0.27). The efficacy and safety of abemaciclib plus ET were confirmed in a real-world setting, even in the elderly population and patients with comorbidities. Evaluation of DDIs with Drug-PIN appears to be an independent predictor of PFS.</p>","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"10 1","pages":"58"},"PeriodicalIF":6.5,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11254918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141634092","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}

{"title":"Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.","authors":"Peter A Fasching, Chunling Hu, Steven N Hart, Matthias Ruebner, Eric C Polley, Rohan D Gnanaolivu, Andreas D Hartkopf, Hanna Huebner, Wolfgang Janni, Peyman Hadji, Hans Tesch, Sabrina Uhrig, Johannes Ettl, Michael P Lux, Diana Lüftner, Markus Wallwiener, Lena A Wurmthaler, Chloë Goossens, Volkmar Müller, Matthias W Beckmann, Alexander Hein, Daniel Anetsberger, Erik Belleville, Pauline Wimberger, Michael Untch, Arif B Ekici, Hans-Christian Kolberg, Arndt Hartmann, Florin-Andrei Taran, Tanja N Fehm, Diethelm Wallwiener, Sara Y Brucker, Andreas Schneeweiss, Lothar Häberle, Fergus J Couch","doi":"10.1038/s41523-024-00667-x","DOIUrl":"10.1038/s41523-024-00667-x","url":null,"abstract":"<p><p>Germline mutations in BRCA1 and BRCA2 (gBRCA1/2) are required for a PARP inhibitor therapy in patients with HER2-negative (HER2-) advanced breast cancer (aBC). However, little is known about the prognostic impact of gBRCA1/2 mutations in aBC patients treated with chemotherapy. This study aimed to investigate the frequencies and prognosis of germline and somatic BRCA1/2 mutations in HER2- aBC patients receiving the first chemotherapy in the advanced setting. Patients receiving their first chemotherapy for HER2- aBC were retrospectively selected from the prospective PRAEGNANT registry (NCT02338167). Genotyping of 26 cancer predisposition genes was performed with germline DNA of 471 patients and somatic tumor DNA of 94 patients. Mutation frequencies, progression-free and overall survival (PFS, OS) according to germline mutation status were assessed. gBRCA1/2 mutations were present in 23 patients (4.9%), and 33 patients (7.0%) had mutations in other cancer risk genes. Patients with a gBRCA1/2 mutation had a better OS compared to non-mutation carriers (HR: 0.38; 95%CI: 0.17-0.86). PFS comparison was not statistically significant. Mutations in other risk genes did not affect prognosis. Two somatic BRCA2 mutations were found in 94 patients without gBRCA1/2 mutations. Most frequently somatic mutated genes were TP53 (44.7%), CDH1 (10.6%) and PTEN (6.4%). In conclusion, aBC patients with gBRCA1/2 mutations had a more favorable prognosis under chemotherapy compared to non-mutation carriers. The mutation frequency of ~5% with gBRCA1/2 mutations together with improved outcome indicates that germline genotyping of all metastatic patients for whom a PARP inhibitor therapy is indicated should be considered.</p>","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"10 1","pages":"57"},"PeriodicalIF":6.5,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11246424/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141603981","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}

{"title":"Author Correction: Subgroup analyses from the phase 3 ASCENT study of sacituzumab govitecan in metastatic triple-negative breast cancer.","authors":"Sara A Hurvitz, Aditya Bardia, Kevin Punie, Kevin Kalinsky, Lisa A Carey, Hope S Rugo, Véronique Diéras, See Phan, Rosemary Delaney, Yanni Zhu, Sara M Tolaney","doi":"10.1038/s41523-024-00666-y","DOIUrl":"10.1038/s41523-024-00666-y","url":null,"abstract":"","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"10 1","pages":"55"},"PeriodicalIF":6.5,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11233646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563931","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}

{"title":"EMBER creates a unified space for independent breast cancer transcriptomic datasets enabling precision oncology.","authors":"Carlos Ronchi, Syed Haider, Cathrin Brisken","doi":"10.1038/s41523-024-00665-z","DOIUrl":"10.1038/s41523-024-00665-z","url":null,"abstract":"<p><p>Transcriptomics has revolutionized biomedical research and refined breast cancer subtyping and diagnostics. However, wider use in clinical practice is hampered for a number of reasons including the application of transcriptomic signatures as single sample predictors. Here, we present an embedding approach called EMBER that creates a unified space of 11,000 breast cancer transcriptomes and predicts phenotypes of transcriptomic profiles on a single sample basis. EMBER accurately captures the five molecular subtypes. Key biological pathways, such as estrogen receptor signaling, cell proliferation, DNA repair, and epithelial-mesenchymal transition determine sample position in the space. We validate EMBER in four independent patient cohorts and show with samples from the window trial, POETIC, that it captures clinical responses to endocrine therapy and identifies increased androgen receptor signaling and decreased TGFβ signaling as potential mechanisms underlying intrinsic therapy resistance. Of direct clinical importance, we show that the EMBER-based estrogen receptor (ER) signaling score is superior to the immunohistochemistry (IHC) based ER index used in current clinical practice to select patients for endocrine therapy. As such, EMBER provides a calibration and reference tool that paves the way for using RNA-seq as a standard diagnostic and predictive tool for ER+ breast cancer.</p>","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"10 1","pages":"56"},"PeriodicalIF":6.5,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11233672/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563932","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}

{"title":"Evaluation of a mobile behavior change program for weight loss in breast cancer survivors.","authors":"Sherry Shen, Erica Salehi, Charlie White, Yuan Chen, Neil M Iyengar","doi":"10.1038/s41523-024-00659-x","DOIUrl":"10.1038/s41523-024-00659-x","url":null,"abstract":"<p><p>Post-diagnosis weight gain is common in early-stage breast cancer and is associated with increased risk of recurrence and mortality. Intentional weight loss is difficult to maintain, and digital lifestyle interventions may provide a scalable approach to address this challenge. In this prospective single-arm study (ClinicalTrials.gov NCT04753268; February 15, 2021), key eligibility criteria included: stage I-III breast cancer, body mass index (BMI) ≥ 27.5 kg/m², and completion of cancer treatment ≥6 months before study enrollment. Participants were provided with a behavioral change mobile application (Noom®). The primary endpoint was a change in self-reported weight from baseline to 26 weeks. Secondary endpoints included engagement, changes in physical activity, dietary patterns, and patient-reported outcomes (PRO). In total, 31 patients were enrolled (mean age 56.8 ± 9.9, mean baseline BMI 33.5 kg/m² ± 6.5). The mean weight change was -4.8 kg ( ± 4.4, P < 0.001), mean percent weight change was -5.6% ( ± 5.0%); 11/31 patients (35.5%) lost ≥5% of their initial weight. Metrics of digital application engagement associated with weight loss ≥5% included articles read (P = 0.012), weights logged (P = 0.006), food records logged (P = 0.001), messages sent (P = 0.001), and application open count (P = 0.014). Significant increases were seen in mean daily step count (P = 0.004), GPAQ scores (P = 0.002), and Body Image Scale scores (P < 0.001). Mean energy intake remained consistently in a calorie-restricted range of 1300-1400 kcal/day. In this study, breast cancer survivors were highly engaged with a behavioral change smartphone application which led to clinically significant weight loss, increased physical activity, maintenance of an energy-restricted diet, and improvements in body image.</p>","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"10 1","pages":"53"},"PeriodicalIF":6.5,"publicationDate":"2024-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11217495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141477056","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}

{"title":"Effect of cross-platform gene-expression, computational methods on breast cancer subtyping in PALOMA-2 and PALLET studies.","authors":"Maggie Chon U Cheang, Mothaffar Rimawi, Stephen Johnston, Samuel A Jacobs, Judith Bliss, Katherine Pogue-Geile, Lucy Kilburn, Zhou Zhu, Eugene F Schuster, Hui Xiao, Lisa Swaim, Shibing Deng, Dongrui R Lu, Eric Gauthier, Jennifer Tursi, Dennis J Slamon, Hope S Rugo, Richard S Finn, Yuan Liu","doi":"10.1038/s41523-024-00658-y","DOIUrl":"10.1038/s41523-024-00658-y","url":null,"abstract":"<p><p>Intrinsic breast cancer molecular subtyping (IBCMS) provides significant prognostic information for patients with breast cancer and helps determine treatment. This study compared IBCMS methods on various gene-expression platforms in PALOMA-2 and PALLET trials. PALOMA-2 tumor samples were profiled using EdgeSeq and nanostring and subtyped with AIMS, PAM50, and research-use-only (ruo)Prosigna. PALLET tumor biopsies were profiled using mRNA sequencing and subtyped with AIMS and PAM50. In PALOMA-2 (n = 222), a 54% agreement was observed between results from AIMS and gold-standard ruoProsigna, with AIMS assigning 67% basal-like to HER2-enriched. In PALLET (n = 224), a 69% agreement was observed between results from PAM50 and AIMS. Different IBCMS methods may lead to different results and could misguide treatment selection; hence, a standardized clinical PAM50 assay and computational approach should be used.Trial number: NCT01740427.</p>","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"10 1","pages":"54"},"PeriodicalIF":6.5,"publicationDate":"2024-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11217366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141477055","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}

{"title":"A panoptic segmentation dataset and deep-learning approach for explainable scoring of tumor-infiltrating lymphocytes.","authors":"Shangke Liu, Mohamed Amgad, Deeptej More, Muhammad A Rathore, Roberto Salgado, Lee A D Cooper","doi":"10.1038/s41523-024-00663-1","DOIUrl":"https://doi.org/10.1038/s41523-024-00663-1","url":null,"abstract":"<p><p>Tumor-Infiltrating Lymphocytes (TILs) have strong prognostic and predictive value in breast cancer, but their visual assessment is subjective. To improve reproducibility, the International Immuno-oncology Working Group recently released recommendations for the computational assessment of TILs that build on visual scoring guidelines. However, existing resources do not adequately address these recommendations due to the lack of annotation datasets that enable joint, panoptic segmentation of tissue regions and cells. Moreover, existing deep-learning methods focus entirely on either tissue segmentation or cell nuclei detection, which complicates the process of TILs assessment by necessitating the use of multiple models and reconciling inconsistent predictions. We introduce PanopTILs, a region and cell-level annotation dataset containing 814,886 nuclei from 151 patients, openly accessible at: sites.google.com/view/panoptils . Using PanopTILs we developed MuTILs, a neural network optimized for assessing TILs in accordance with clinical recommendations. MuTILs is a concept bottleneck model designed to be interpretable and to encourage sensible predictions at multiple resolutions. Using a rigorous internal-external cross-validation procedure, MuTILs achieves an AUROC of 0.93 for lymphocyte detection and a DICE coefficient of 0.81 for tumor-associated stroma segmentation. Our computational score closely matched visual scores from 2 pathologists (Spearman R = 0.58-0.61, p < 0.001). Moreover, computational TILs scores had a higher prognostic value than visual scores, independent of TNM stage and patient age. In conclusion, we introduce a comprehensive open data resource and a modeling approach for detailed mapping of the breast tumor microenvironment.</p>","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"10 1","pages":"52"},"PeriodicalIF":6.5,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11213912/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141469711","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}

{"title":"Contextual and individual inequalities in breast cancer screening participation and outcomes in Turin (North-West Italy).","authors":"Chiara Di Girolamo, Giulio Cammarata, Livia Giordano, Nicolás Zengarini, Elisa Ferracin, Viviana Vergini, Gianluigi Ferrante, Fulvio Ricceri","doi":"10.1038/s41523-024-00660-4","DOIUrl":"https://doi.org/10.1038/s41523-024-00660-4","url":null,"abstract":"<p><p>Breast cancer incidence and screening participation exhibit an unequal distribution in the population. This study aims to investigate the impact of socioeconomic position (SEP) on three breast screening indicators (participation, recall, and cancer detection rates) among women aged 50-69 in the city of Turin between 2010 and 2019. The study also aims to determine whether contextual factors (deprivation index) or individual factors (educational level) have a greater influence. The data used in this study are sourced from the Turin Breast Screening Program (TBSP) and the Turin Longitudinal Study (TLS). To test the hypothesis and account for the hierarchical structure of the data, multilevel models were used. Both contextual and individual SEP were found to be associated with screening participation. Participation increased with higher levels of deprivation (odds ratio for most deprived: 1.13; 95% CI 1.11-1.16) and decreased with higher educational levels (OR for low educated: 1.37; 95% CI 1.34-1.40). Contextual SEP did not show any association with recall or cancer detection rates, but individual SEP had an impact. Women with lower educational levels had a statistically significant 19% lower odds of being recalled and a statistically significant 20% lower odds of being diagnosed with cancer. Additionally, immigrant women were less likely to participate in screening, be recalled, or receive a cancer diagnosis. Educational level consistently influenced the analyzed screening indicators, while contextual deprivation appeared to have less importance. It is likely that women living in less deprived areas and with higher education have greater access to opportunistic screening.</p>","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"10 1","pages":"51"},"PeriodicalIF":6.5,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11211318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141469712","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}

{"title":"Use of ctDNA in early breast cancer: analytical validity and clinical potential.","authors":"François Panet, Andri Papakonstantinou, Maria Borrell, Joan Vivancos, Ana Vivancos, Mafalda Oliveira","doi":"10.1038/s41523-024-00653-3","DOIUrl":"10.1038/s41523-024-00653-3","url":null,"abstract":"<p><p>Circulating free tumor DNA (ctDNA) analysis is gaining popularity in precision oncology, particularly in metastatic breast cancer, as it provides non-invasive, real-time tumor information to complement tissue biopsies, allowing for tailored treatment strategies and improved patient selection in clinical trials. Its use in early breast cancer has been limited so far, due to the relatively low sensitivity of available techniques in a setting characterized by lower levels of ctDNA shedding. However, advances in sequencing and bioinformatics, as well as the use of methylome profiles, have led to an increasing interest in the application of ctDNA analysis in early breast cancer, from screening to curative treatment evaluation and minimal residual disease (MRD) detection. With multiple prospective clinical trials in this setting, ctDNA evaluation may become useful in clinical practice. This article reviews the data regarding the analytical validity of the currently available tests for ctDNA detection and the clinical potential of ctDNA analysis in early breast cancer.</p>","PeriodicalId":19247,"journal":{"name":"NPJ Breast Cancer","volume":"10 1","pages":"50"},"PeriodicalIF":6.5,"publicationDate":"2024-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11187121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141427276","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}