Breast最新文献

{"title":"Explainable machine learning model for predicting internal mammary node metastasis in breast cancer: Multi-method development and cross-cohort validation","authors":"Yirong Xiang ,&nbsp;Jian Tie ,&nbsp;Siyuan Zhang ,&nbsp;Chen Shi ,&nbsp;Changkuo Guo ,&nbsp;Yushuo Peng ,&nbsp;Zhaoqing Fan ,&nbsp;Weihu Wang","doi":"10.1016/j.breast.2025.104517","DOIUrl":"10.1016/j.breast.2025.104517","url":null,"abstract":"<div><h3>Background</h3><div>This study developed an explainable machine learning model for baseline internal mammary lymph node metastasis (IMNM) in breast cancer patients.</div></div><div><h3>Materials and methods</h3><div>This study included three cohorts: a derivation cohort (n = 1997) from Peking University Cancer Hospital, a temporal testing cohort (n = 633) from the same center, and a SEER cohort (n = 51,420). Multiple machine learning strategies were conducted: Least Absolute Shrinkage and Selection Operator (LASSO), Boruta, backward stepwise regression, and best subset for feature selection, and logistic regression (LR), support vector machines (SVM), k-nearest neighbors (KNN), and extreme gradient boosting (XGBoost) for model construction. The best-performing model was validated across internal and temporal testing cohorts. Shapley Additive Explanations (SHAP) analysis was conducted to improve interpretability.</div></div><div><h3>Results</h3><div>Six clinical features (clinical N stage, size, stage, classification, grade and location) were used to construct the final predictive model with SVM. The model achieved robust performance, with AUCs of 0·811 (0·790–0·843), 0.806 (0·760-0·857) and 0·864 (0·830–0·926) in the training, internal testing and temporal testing cohort, respectively. High-risk patients exhibited significantly worse outcomes with DFS (HR 2·776, 95 % CI: 1·897–4·064, p &lt; 0·001) and OS (HR of 1·962, 95 % CI: 1·853–2·077, p &lt; 0·001). An online prediction tool was established that allows users to input key clinical variables and obtain model-predicted probabilities along with SHAP-based explanations.</div></div><div><h3>Conclusion</h3><div>This validated and explainable machine learning model offers a practical tool for early risk stratification, aiding clinicians in appropriate baseline imaging selection and adjuvant treatment planning.</div></div>","PeriodicalId":9093,"journal":{"name":"Breast","volume":"82 ","pages":"Article 104517"},"PeriodicalIF":5.7,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144272025","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}

{"title":"Body mass index and progesterone receptor in postmenopausal ER-positive/HER2-negative breast cancer: A nation-wide study in Korean breast cancer society and the multi-institutional cohort","authors":"Janghee Lee ,&nbsp;Soong June Bae ,&nbsp;Hong Kyu Kim ,&nbsp;Seok Jin Nam ,&nbsp;Hee Jeong Kim ,&nbsp;Soo Youn Bae ,&nbsp;Ho Yong Park ,&nbsp;Byung Kyun Ko ,&nbsp;Jung Ho Park ,&nbsp;Yeonjoo Kwon ,&nbsp;Youri Park ,&nbsp;Seung Ho Baek ,&nbsp;Yoowon Kook ,&nbsp;Sanghwa Kim ,&nbsp;Young Ah Lim ,&nbsp;Hee-Joon Kang ,&nbsp;Doyil Kim ,&nbsp;Joon Jeong ,&nbsp;Sung Gwe Ahn","doi":"10.1016/j.breast.2025.104515","DOIUrl":"10.1016/j.breast.2025.104515","url":null,"abstract":"<div><h3>Background</h3><div>Obesity is a risk factor for breast cancer and associated with increased estrogen levels that stimulate the progesterone receptor (PgR). Understanding interplay between obesity, PgR, and prognosis in estrogen receptor (ER)-positive/human epidermal growth factor receptor 2 (HER2)-negative breast cancer (ER+/HER2-) is crucial. This study aimed to investigate the association between body mass index (BMI) and the prognostic value of PgR.</div></div><div><h3>Methods</h3><div>Study included 10,125 postmenopausal patients with ER+/HER2-breast cancer between January 1991 to December 2019. Patients were categorized according to BMI (cutoff: 25 kg/m²) and PgR (positive/negative). The primary outcomes were the 6-year overall survival (OS) in the Korean Breast Cancer Registry (KBCR) cohort and 6-year recurrence-free survival (RFS) in the multi-institutional cohort.</div></div><div><h3>Results</h3><div>In both cohorts, a greater proportion of patients with high BMI were PgR-positive, and the mean BMI was higher in the PgR-positive group. PgR-negativity was associated with worse 6-year OS in the KBCR cohort among patients with BMI ≥25 kg/m² (hazard ratio [HR], 1.45; 95 % confidence intervals [CI], 1.06–1.97; <em>P</em> = .02), but not in those with BMI &lt;25 kg/m². Similarly, in the multi-institutional cohort, PgR-negativity was associated with worse 6-year RFS only in patients with BMI ≥25 kg/m² (HR, 2.93; 95 % CI, 1.29–6.69; <em>P</em> = .01). The mean 21-gene recurrence score was higher in the PgR-negative group, regardless of the BMI.</div></div><div><h3>Conclusions</h3><div>In postmenopausal patients with ER+/HER2-breast cancer, the prognostic impact of PgR is modified by BMI. PgR-negativity is a strong predictor of poor outcomes in obese patients but not in non-obese patients.</div></div>","PeriodicalId":9093,"journal":{"name":"Breast","volume":"82 ","pages":"Article 104515"},"PeriodicalIF":5.7,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144290828","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}

{"title":"Prognostic significance of receptor conversion following neoadjuvant therapy in breast cancer: a systematic review & meta-analysis","authors":"Gavin P. Dowling ,&nbsp;Gordon R. Daly ,&nbsp;Cian M. Hehir ,&nbsp;Maen M. AlRawasdeh ,&nbsp;Gavin G. Calpin ,&nbsp;Sami Almasri ,&nbsp;Sinead Toomey ,&nbsp;Leonie S. Young ,&nbsp;Bryan T. Hennessey ,&nbsp;Arnold D.K. Hill","doi":"10.1016/j.breast.2025.104516","DOIUrl":"10.1016/j.breast.2025.104516","url":null,"abstract":"<div><h3>Purpose</h3><div>Receptor conversion following neoadjuvant therapy in breast cancer may influence prognosis and adjuvant treatment decisions. This systematic review and meta-analysis evaluated the prognostic significance of changes in hormone receptor (HR) and HER2 status after neoadjuvant therapy.</div></div><div><h3>Methods</h3><div>This study was performed in accordance with PRISMA guidelines. A systematic search of the literature was conducted to identify studies assessing the prognostic effect of receptor conversion after neoadjuvant treatment in breast cancer. Studies reporting receptor status before and after neoadjuvant therapy, with associated survival outcomes, were included. Pooled hazard ratios (HRs) for disease-free survival (DFS) and overall survival (OS) were calculated using random-effects models.</div></div><div><h3>Results</h3><div>Twenty-two studies (n = 5370) were included in this meta-analysis. HR gain demonstrated significantly improved DFS (HR 0.49, 95 % CI 0.25–0.97; <em>p</em> = 0.04), but no OS benefit. HR loss was associated with both significantly worse DFS (HR 3.42, 95 % CI 1.93–6.08; <em>p</em> &lt; 0.001) and OS (HR 1.99, 95 % CI 1.04–3.84; <em>p</em> = 0.04). HER2 gain had a negative impact on DFS (HR 1.89, 95 % CI 1.00–3.58; <em>p</em> = 0.05), with no significant effect on OS. HER2 loss was associated with significantly poorer DFS (HR 1.92, 95 % CI 1.51–2.43; <em>p</em> &lt; 0.001) and OS (HR 2.20, 95 % CI 1.44–3.38; <em>p</em> &lt; 0.001).</div></div><div><h3>Conclusion</h3><div>This systematic review and meta-analysis demonstrates that receptor conversion following neoadjuvant therapy in breast cancer significantly impacts survival outcomes. Specifically, gaining HR positivity is associated with improved DFS, while losing HR positivity correlates with worse DFS and OS. With regards to HER2, gaining positivity is associated with worse DFS, and losing positivity is associated with worse DFS and OS, compared to patients who maintain their initial status. These findings underscore the potential importance of reassessing receptor status after neoadjuvant therapy to tailor subsequent treatment decisions accurately.</div></div>","PeriodicalId":9093,"journal":{"name":"Breast","volume":"82 ","pages":"Article 104516"},"PeriodicalIF":5.7,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144262810","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}

{"title":"Body image in breast cancer survivors: Age-moderated effects of treatment-induced menopause and fertility concerns","authors":"Oshri Saar Sheffi ,&nbsp;Shani Paluch–Shimon ,&nbsp;Gil Goldzwieg ,&nbsp;Shiran Klein Rotchild ,&nbsp;Michal Braun","doi":"10.1016/j.breast.2025.104512","DOIUrl":"10.1016/j.breast.2025.104512","url":null,"abstract":"<div><h3>Purpose</h3><div>Hormone receptor-positive breast cancer survivors undergoing endocrine therapy face significant body image challenges. This study aimed to examine differences in body image between hormone receptor-positive breast cancer survivors receiving endocrine therapy and unaffected, healthy women. Specifically, we investigated whether treatment-induced menopausal symptoms and fertility concerns mediate the relationship between breast cancer survivorship and body image. Additionally, we explored whether age moderates these mediation effects, assessing whether the strength of these indirect relationships varies across different age groups.</div></div><div><h3>Methods</h3><div>121 hormone receptor-positive breast cancer survivors and 114 healthy women completed a sociodemographic questionnaire, the Body Image Scale (BIS), the Menopausal Rating Scale (MRS), and the Reproductive Concerns Scale (RCS). Breast cancer survivors also completed a medical data questionnaire.</div></div><div><h3>Results</h3><div>Hormone receptor-positive breast cancer survivors reported significantly higher levels of negative body image, menopausal symptoms, and fertility concerns compared to healthy women. Moderated mediation analyses revealed that both menopausal symptoms and fertility concerns mediated the relationship between breast cancer and body image, with age moderating these relationships. The indirect effects were stronger among younger women and diminished with age. The mediating effect through menopausal symptoms was particularly pronounced for somatic and urogenital symptoms.</div></div><div><h3>Conclusions</h3><div>These results highlight the significant role of treatment-induced menopausal symptoms and fertility concerns in shaping body image among young hormone receptor-positive breast cancer survivors. These young women should be provided with targeted information and interventions that will help them cope with treatment-related side effects and maintain positive body image as part of the recovery process.</div></div>","PeriodicalId":9093,"journal":{"name":"Breast","volume":"82 ","pages":"Article 104512"},"PeriodicalIF":5.7,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144262811","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}

{"title":"Improving medication adherence to endocrine therapy in breast cancer patients: a mixed-methods systematic review of effective communication strategies for healthcare providers","authors":"M.A.A. Smits ,&nbsp;L.H. Mammatas ,&nbsp;L. Schoonhoven ,&nbsp;S.C.J.M. Vervoort","doi":"10.1016/j.breast.2025.104510","DOIUrl":"10.1016/j.breast.2025.104510","url":null,"abstract":"","PeriodicalId":9093,"journal":{"name":"Breast","volume":"82 ","pages":"Article 104510"},"PeriodicalIF":5.7,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144178658","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}

{"title":"Intellectual or developmental disabilities and curative female breast cancer treatment: A population-based retrospective cohort study","authors":"Rebecca L. Hansford ,&nbsp;Brooke Wilson ,&nbsp;Rebecca Griffiths ,&nbsp;Alyson L. Mahar","doi":"10.1016/j.breast.2025.104509","DOIUrl":"10.1016/j.breast.2025.104509","url":null,"abstract":"<div><h3>Background</h3><div>Adults with intellectual or developmental disabilities (IDD) diagnosed with breast cancer are more likely to die than those without IDD. Differences in breast cancer treatment among individuals with and without IDD could contribute to survival disparities. We compared breast cancer treatment receipt among adults with and without IDD.</div></div><div><h3>Methods</h3><div>A population-based retrospective cohort study was conducted using administrative data. We included adult females diagnosed with stage I-III breast cancer in Ontario (2007–2018). IDD status was identified using an established algorithm. We estimated associations between IDD and surgical resection, adjuvant chemotherapy, and radiation using cause-specific hazards models in four distinct cohorts determined by stage and treatment eligibility. Unadjusted and adjusted hazard ratios (HR; adjusted for region, rurality, previous cancer, stage and year of diagnosis) with 95 % confidence intervals are reported, accounting for the competing event of death. Cancer subtype was not adjusted for as about 25 % of participants were missing this information. Effect modification by age, stage and comorbidity was explored.</div></div><div><h3>Results</h3><div>The four cohorts included 100,679 (IDD = 369), 12,526 (IDD = 57), 60,279 (IDD = 167), and 7891 individuals (IDD = 22), respectively. Relative to those without IDD, people with IDD were less likely to receive surgical resection (HR = 0.84; 0.76–0.94), breast conserving surgery (HR = 0.69; 0.60–0.80), adjuvant chemotherapy (HR = 0.49; 0.32–0.74), and radiation (HR = 0.58; 0.46–0.73). People with IDD were as likely to receive mastectomy (HR = 1.13; 0.97–1.33). Significant interactions by age and IDD were detected for receipt of mastectomy (interaction p-value = 0.03) and breast conserving surgery (interaction p-value = 0.02).</div></div><div><h3>Conclusions</h3><div>Research to understand treatment decision-making, the accessibility of breast cancer treatment, and to examine potential pathways to improve receipt of guideline-recommended care are needed to inform targeted improvements in care delivery.</div></div>","PeriodicalId":9093,"journal":{"name":"Breast","volume":"82 ","pages":"Article 104509"},"PeriodicalIF":5.7,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289178","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}

{"title":"The association between intrinsic breast cancer subtypes, mammography screening and prognosis: a large population-based real world cohort study","authors":"Santeri Palmi ,&nbsp;Teemu J Murtola ,&nbsp;Mika Murto ,&nbsp;Heini Huhtala ,&nbsp;Otso Arponen ,&nbsp;Arja Jukkola","doi":"10.1016/j.breast.2025.104507","DOIUrl":"10.1016/j.breast.2025.104507","url":null,"abstract":"<div><h3>Introduction</h3><div>Breast cancer (BC) as a heterogeneous disease is routinely managed according to its intrinsic subtypes. Mammographic BC screening reduces overall mortality in females. Our aim was to analyze the association between different intrinsic subtypes and mammography screening coverage (pre-screening-aged, screening-aged vs. post-screening-aged), attendance (attendance vs. non-attendance), and means of detection (screen-detected vs. interval BC) and BC survival.</div></div><div><h3>Materials and methods</h3><div>We used a subpopulation of a registry including all patients diagnosed with invasive BC in Finland between 1995 and 2013. We collected screening results, information on biological characteristics and survival from national registries.</div></div><div><h3>Results</h3><div>We included 7389 patients with early-stage BC. Compared to luminal A-like subtype, patients with triple-negative BC had the highest risks of death (HR: 1.81, 95 % CI: 1.52–2.15) and BC-related death (HR: 3.16, 95 % CI: 2.43–4.10). The majority of triple-negative BCs were diagnosed after the screening age. HER2-positive (non-luminal) tumors were most likely interval tumors, while the rest of the subtypes were most likely screen-detected. The risk of death was higher in patients with interval cancers compared to screen-detected cases (HR 1.40, 95 % CI: 1.18–1.68) and even higher among patients not attending screening (HR 2.17, 95 % CI: 1.75–2.68); this association was also detected in major subtypes.</div></div><div><h3>Conclusion</h3><div>In this real-world dataset, triple-negative tumors had the highest risk of death and majority of these tumors were found after the screening age. In screening-aged females, patients with screen-detected tumors had the best survival, while patients with interval tumors and patients not attending screening had the worst prognosis.</div></div>","PeriodicalId":9093,"journal":{"name":"Breast","volume":"82 ","pages":"Article 104507"},"PeriodicalIF":5.7,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144137930","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}

{"title":"Integrating genetic polymorphisms and clinical data to develop predictive models for skin toxicity in breast cancer radiation therapy","authors":"Ester Aguado-Flor ,&nbsp;Victoria M. Reyes ,&nbsp;Víctor Navarro ,&nbsp;Meritxell Mollà ,&nbsp;Miguel E. Aguado-Barrera ,&nbsp;Manuel Altabas ,&nbsp;David Azria ,&nbsp;Adinda Baten ,&nbsp;Celine Bourgier ,&nbsp;Renée Bultijnck ,&nbsp;Jenny Chang-Claude ,&nbsp;Maria Carmen De Santis ,&nbsp;Alison M. Dunning ,&nbsp;Laura Duran-Lozano ,&nbsp;Rebecca M. Elliott ,&nbsp;Marie-Pierre Farcy Jacquet ,&nbsp;Carlotta Giandini ,&nbsp;Alexandra Giraldo ,&nbsp;Sheryl Green ,&nbsp;Maarten Lambrecht ,&nbsp;Sara Gutiérrez-Enríquez","doi":"10.1016/j.breast.2025.104506","DOIUrl":"10.1016/j.breast.2025.104506","url":null,"abstract":"<div><h3>Background</h3><div>We aim to develop and validate predictive models for acute and late skin toxicity in breast cancer (BC) patients undergoing radiation therapy (RT). Models incorporate a genetic profile—comprising candidate single nucleotide polymorphisms (SNPs) in non-coding RNAs and previously reported toxicity-associated variants—combined with clinical variables.</div></div><div><h3>Methods</h3><div>The study involved 1979 BC patients monitored for two to eight years post-RT in a multi-centre study. We assessed acute (oedema/erythema) and late (atrophy/fibrosis) toxicity using logistic regression and Cox proportional hazards models. The cohort was divided into training and validation datasets.</div></div><div><h3>Results</h3><div>Six SNPs demonstrated to be predictors of acute (rs13116075, rs12565978, rs72550778 and rs7284767) and late toxicity (rs16837908 and rs61764370) either in the training or validation cohort. However, none of these SNPs were consistently associated with toxicity across both stages of analysis. The rs13116075, rs12565978 and rs16837908 were previously reported to be associated with RT toxicity. In the validation phase, SNP-based models showed limited predictive ability, with AUC values of 0.49 and c-index of 0.54 for acute and late toxicity, respectively. Models incorporating either clinical variables alone or in combination with SNPs achieved similar AUC and c-index values of ∼0.60 for acute and late toxicity, respectively. However, the combined model exhibited the highest predictive accuracy for acute and late toxicity, both in the training and the validation cohorts.</div></div><div><h3>Conclusions</h3><div>Our findings highlight the importance of combining clinical data with genetic markers to enhance the accuracy of models predicting RT toxicity in BC.</div></div>","PeriodicalId":9093,"journal":{"name":"Breast","volume":"82 ","pages":"Article 104506"},"PeriodicalIF":5.7,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144472315","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}

{"title":"Sarcopenia in patients with metastatic breast cancer: A systematic review and meta-analysis","authors":"Min Kyeong Jang ,&nbsp;Sungwon Park ,&nbsp;Chang Park ,&nbsp;Rebecca Raszewski ,&nbsp;Seho Park ,&nbsp;Sue Kim","doi":"10.1016/j.breast.2025.104508","DOIUrl":"10.1016/j.breast.2025.104508","url":null,"abstract":"<div><h3>Background</h3><div>Sarcopenia is associated with poor treatment outcomes and survival in early breast cancer and other cancer types. This systematic review and meta-analysis evaluated sarcopenia's prevalence and clinical implications for metastatic breast cancer—an area that remains underexplored.</div></div><div><h3>Methods</h3><div>A systematic literature review searched CINAHL, Cochrane Library, Embase, and Ovid MEDLINE for studies published before October 2024. A meta-analysis using a random- or fixed-effects model calculated mean differences in skeletal muscle index (SMI) and assessed the association with progression-free and overall survival. The study protocol was registered on PROSPERO (CRD42024557390).</div></div><div><h3>Results</h3><div>Fourteen studies involving 1472 participants with metastatic breast cancer were included. The pooled overall sarcopenia prevalence was 41.6 % (95 % CI 35.4 %–48.7 %), with variability driven by differing SMI cutoffs (38–41 cm²/m²). The pooled mean SMI was 41.01 cm²/m² (95 % CI 38.81–43.21, <em>p</em> &lt; .001), with significant heterogeneity <em>(I</em>² = 95.3 %). Subgroup analysis revealed that patients treated with cyclin-dependent kinase 4 and 6 (CDK4/6) inhibitors as first-line treatment had an SMI of 42.08 cm²/m². Our synthesized review showed heterogeneous association between sarcopenia and poor treatment outcomes. Sarcopenia's impact on progression-free survival (hazard ratio = 1.17, 95 % CI 0.43–1.91) and overall survival (hazard ratio = 0.99, 95 % CI 0.96–1.01) was not statistically significant.</div></div><div><h3>Conclusions</h3><div>Sarcopenia is prevalent and clinically meaningful in metastatic breast cancer. While its direct role in survival remains inconclusive, early assessment of sarcopenia by molecular subtype and treatment timing is crucial for optimizing care.</div></div>","PeriodicalId":9093,"journal":{"name":"Breast","volume":"82 ","pages":"Article 104508"},"PeriodicalIF":5.7,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144169798","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}

{"title":"Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits","authors":"Dennis Witt ,&nbsp;Marc Sturm ,&nbsp;Antje Stäbler ,&nbsp;Benita Menden ,&nbsp;Lisa Ruisinger ,&nbsp;Kristin Bosse ,&nbsp;Ines Gruber ,&nbsp;Andreas Hartkopf ,&nbsp;Silja Gauß ,&nbsp;German Demidov ,&nbsp;Nicolas Casadei ,&nbsp;Elena Buena Atienza ,&nbsp;Kira Mehnert ,&nbsp;Janna Witt ,&nbsp;Caspar Gross ,&nbsp;Leon Schütz ,&nbsp;Christopher Schroeder ,&nbsp;Stephan Ossowski ,&nbsp;Andreas Dufke ,&nbsp;Tobias B. Haack ,&nbsp;Ulrike Faust","doi":"10.1016/j.breast.2025.104505","DOIUrl":"10.1016/j.breast.2025.104505","url":null,"abstract":"<div><div>Hereditary breast and ovarian cancer (HBOC) is one of the most frequent genetic cancer predisposition syndromes. Individuals at risk are identified mainly by family history and histopathological criteria. The current standard genetic testing is exome or panel sequencing. However, many high-risk families remain genetically unexplained. Genome sequencing has the potential to increase the diagnostic yield. This single-center real-world study aims to evaluate advantages of short-read genome sequencing (GS) in HBOC families. We report genome sequencing results of 818 index patients, who fulfilled clinical criteria for genetic testing. Data analysis showed less sequencing gaps and a more uniform coverage compared to a large cohort of in-house exomes. Samples were sequenced at an average depth of 41.2x for the HBOC core genes. Pathogenic variants were found in 9 of 13 core genes in 12.2 % of the patients. GS allowed the classification of a <em>BRCA1</em> duplication and detected a whole-exon inversion in <em>BARD1,</em> as well as a deep intronic <em>CHEK2</em> variant. Furthermore, we successfully used the BRIDGES-PRS in our HBOC cohort and found a significant effect size compared to the control cohort (p = 4.804⁻¹⁴, Cohen's-D: 0.476), proving the transferability to a German cohort. GS offers a wealth of information, including the improved detection of structural variants, copy number variants, and parallel detection of complex genetic markers. This has the potential for future analyses, including intronic and intergenic regions. Finally, it also allows for a more streamlined process by converging several tests into one. The approach presented will give guidance for the implementation of GS in HBOC diagnostics.</div></div>","PeriodicalId":9093,"journal":{"name":"Breast","volume":"82 ","pages":"Article 104505"},"PeriodicalIF":5.7,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144105287","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}