Breast Cancer Research and Treatment最新文献

{"title":"Clinicopathologic characteristics of ductal carcinoma in situ and risk of subsequent invasive breast cancer: a multicenter, population-based cohort study.","authors":"Thomas E Rohan, Yihong Wang, Fergus Couch, Heather Spencer Feigelson, Robert T Greenlee, Stacey Honda, Azadeh Stark, Dhananjay Chitale, Chenxin Zhang, Xiaonan Xue, Mindy Ginsberg, Olivier Loudig","doi":"10.1007/s10549-024-07599-x","DOIUrl":"10.1007/s10549-024-07599-x","url":null,"abstract":"<p><strong>Purpose: </strong>To study the association between clinicopathologic characteristics of ductal carcinoma in situ (DCIS) and risk of subsequent invasive breast cancer (IBC).</p><p><strong>Methods: </strong>We conducted a case-control study nested in a multicenter, population-based cohort of 8175 women aged ≥ 18 years with DCIS diagnosed between 1987 and 2016 and followed for a median duration of 83 months. Cases (n = 497) were women with a first diagnosis of DCIS who developed a subsequent IBC ≥ 6 months later; controls (2/case; n = 959) were matched to cases on age at and calendar year of DCIS diagnosis. Univariable and multivariable conditional logistic regression models were used to examine the associations between the DCIS characteristics of interest (non-screen detection of DCIS, tumor size, positive margins, grade of DCIS, necrosis, architectural pattern, microcalcification, and estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2) status) and risk of IBC.</p><p><strong>Results: </strong>In the total study population, the associations were largely null. In subgroup analyses, there were strong position associations with punctate necrosis (pre/perimenopausal women), detection by physical exam (postmenopausal women), architectural patterns other than the main types (breast-conserving surgery [BCS]), and DCIS margins (ipsilateral cases), and inverse associations with HER2 positivity (BCS) and microcalcification (mastectomy); however, the associated confidence intervals were mostly very wide.</p><p><strong>Conclusion: </strong>The results of this study provide limited support for associations of the DCIS clinicopathologic characteristics studied here and risk of IBC.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"615-625"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11953078/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient-reported outcomes after immediate and delayed DIEP-flap breast reconstruction in the setting of post-mastectomy radiation therapy-results of the multicenter UMBRELLA breast cancer cohort.","authors":"Britt A M Jansen, Claudia A Bargon, Maria A Bouman, Dieuwke R Mink van der Molen, Emily L Postma, Femke van der Leij, Erik Zonnevylle, Quinten Ruhe, Sven E Bruekers, Wiesje Maarse, Sabine Siesling, Danny A Young-Afat, Annemiek Doeksen, Helena M Verkooijen","doi":"10.1007/s10549-025-07613-w","DOIUrl":"10.1007/s10549-025-07613-w","url":null,"abstract":"<p><strong>Purpose: </strong>Timing of Deep Inferior Epigastric artery Perforator (DIEP)-flap breast reconstruction in the context of post-mastectomy radiotherapy for breast cancer patients is topic of debate. We compared the impact of immediate (before radiotherapy) versus delayed (after radiotherapy) DIEP-flap breast reconstruction (IBR versus DBR) on short- and long-term patient-reported outcomes (PROs).</p><p><strong>Methods: </strong>Within the prospective, multicenter breast cancer cohort (UMBRELLA), we identified 88 women who underwent immediate or delayed DIEP-flap breast reconstruction and received PMRT. At 6 and 12 months post-mastectomy, as well as on long-term (≥ 12 months post-reconstruction) body image, breast symptoms, physical functioning, and pain were measured by EORTC-QLQ-30/BR23. Additionally, long-term evaluation included satisfaction with breast(s), physical well-being and self-reported adverse effects of radiation as measured by BREAST-Q, and late treatment toxicity. PROs were compared between groups using independent sample T-test.</p><p><strong>Results: </strong>IBR was performed in 56 patients (64%) and DBR in 32 patients (36%), with 15 months of median time to reconstruction. At 6 and 12 months post-mastectomy, better body image and physical functioning were observed after IBR. No statistically nor clinically relevant differences were observed in long-term EORTC and BREAST-Q outcomes (median follow-up 37-41 months for IBR vs. 42-46 months for DBR). Patients with IBR reported more fibrosis and movement restriction (median follow-up 29 vs. 61 months, resp.).</p><p><strong>Conclusion: </strong>Long-term PROs were comparable for patients with IBR and DBR, despite more patient-reported fibrosis and movement restriction after IBR. Therefore, both treatment pathways can be considered when opting for autologous breast reconstruction in the setting of PMRT.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"759-769"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11953195/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Establishment of multiple machine learning prognostic model for gene differences between primary tumors and lymph nodes in luminal breast cancer.","authors":"Meng Yue, Jianing Zhao, Si Wu, Lijing Cai, Xinran Wang, Ying Jia, Xiaoxiao Wang, Yongjun Wang, Yueping Liu","doi":"10.1007/s10549-024-07574-6","DOIUrl":"10.1007/s10549-024-07574-6","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to explore the correlation between primary tumors (PT) and paired metastatic lymph nodes (LN) and to develop a predictive model to provide evidence for forecasting patient prognoses.</p><p><strong>Methods: </strong>We obtained single-cell and bulk transcriptome data from the Gene Expression Omnibus database. Furthermore, mRNA transcriptomic data, encompassing 112 normal tissues and 1066 breast cancer samples, along with survival, clinical, and mutation information for breast cancer patients, were acquired from The Cancer Genome Atlas (TCGA). Employing a machine learning integration framework incorporating ten distinct algorithms, we developed and validated a prognostic model.</p><p><strong>Results: </strong>We constructed a prognostic model named Lymph Node Metastasis-Related Scores (LMRS) using 26 differentially expressed genes trained on eight TCGA datasets. Across validation sets, the model demonstrated a high C-index, signifying its stability and effectiveness, outperforming 64 models from other studies. Notably, cytolytic activity and T cell co-stimulation were downregulated in the high LMRS group, alongside a downregulation of immune cells, including B cells, CD8 + T cells, iDCs, and TILs. Similarly, most immune checkpoints exhibited a decreasing trend with high LMRS expression. Finally, we selected the hub biomarkers PGK1 and HSP90 for pathological verification. Results indicated higher expression levels in PT and LN compared to normal and benign tumors, with higher expression levels in LN than in PT.</p><p><strong>Conclusion: </strong>This comprehensive analysis sheds light on gene expression differences between PT and LN in breast cancer, culminating in the development of a multiple-gene prognostic model with high clinical accuracy for prognosis prediction.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"365-376"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Secretory breast carcinoma: a multicenter clinicopathologic study of 80 cases with emphasis on prognostic analysis and chemotherapy benefit.","authors":"Mengyang Qi, Shuang Gao, Zhe Zhang, Ronggang Lang, Zhidong Huang, Jinhui Wang, Xiaolong Qian, Kuisheng Chen, Hong Liu","doi":"10.1007/s10549-024-07583-5","DOIUrl":"10.1007/s10549-024-07583-5","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate clinicopathologic characteristics and prognosis in secretory breast carcinoma (SBC) and to determine chemotherapy benefits stratified by different subgroups.</p><p><strong>Methods: </strong>SBCs and triple-negative invasive ductal carcinoma patients (TN-IDCs) were enrolled from three cancer centers between January 2011 and December 2020. SBCs were further divided into two subgroups: those with triple negativity (TN-SBCs) and those without (non-TN-SBCs). Clinicopathologic characteristics were thoroughly compared among the three subgroups associated with triple negativity. Kaplan-Meier estimates and Cox proportional hazard models were performed for survival analysis.</p><p><strong>Results: </strong>A total of 80 SBCs and 310 TN-IDCs were included in the study. The TN-SBC subgroup consisted of 35 individuals (43.75%) with mild clinical behaviors and a satisfying prognosis in comparison to non-TN-SBCs and TN-IDCs. In SBCs, N stage (N1 vs. N0: HR = 11.176, 95% CI 0.843-148.132, p = 0.067; N2-3 vs. N0: HR = 30.409, 95% CI 1.378-671.169, p = 0.031), LNR (HR = 23.894, 95% CI 1.614-353.835, p = 0.021), and histological grade (HR = 28.634, 95% CI 2.745-298.703, p = 0.005) were significantly correlated with disease-free survival (DFS). Patients in high LNR group receiving chemotherapy achieved a prolonged DFS (p = 0.025), while chemotherapy did not confer a survival benefit in TN-SBCs of our interest (p = 0.12).</p><p><strong>Conclusion: </strong>TN-SBC is a unique entity with low malignant potential. Advanced N stage, high LNR, and advanced histological grade are adverse determinants of DFS in SBC. Adjuvant chemotherapy provides superior DFS in high LNR SBCs rather than TN-SBCs, hence it is recommended for high LNR SBCs.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"451-461"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of resistance training vs high intensity interval training on body composition, muscle strength, cardiorespiratory fitness, and quality of life in survivors of breast cancer: a randomized trial.","authors":"Francesco Bettariga, Dennis R Taaffe, Cristina Crespo-Garcia, Timothy D Clay, Daniel A Galvão, Robert U Newton","doi":"10.1007/s10549-024-07559-5","DOIUrl":"10.1007/s10549-024-07559-5","url":null,"abstract":"<p><strong>Purpose: </strong>Breast cancer treatments often lead to unfavourable changes in body composition, physical fitness, and quality of life (QoL). We compared the effects of resistance training (RT) and high-intensity interval training (HIIT) on these outcomes in survivors of breast cancer.</p><p><strong>Methods: </strong>Twenty-eight survivors of breast cancer, post-treatment (Stage I-III), aged 55.5 ± 8.8 years and body mass index 27.9 ± 5 kg/m² were randomly allocated to a 12-week supervised RT (n = 14) or HIIT (n = 14) intervention, 3 days per week. Body composition (dual energy x-ray absorptiometry), upper and lower body muscle strength (1-repetition maximum), cardiorespiratory fitness (CRF) (Ekblom Bak Cycle Test), and QoL domains (EORTC QLQ-C30 and EORTC QLQ-BR45) were assessed at baseline and 12 weeks.</p><p><strong>Results: </strong>There were no significant differences between groups at baseline. Exercise attendance ranged from 81 to 85%. Between groups, there were significant differences (p ≤ 0.001) after 12 weeks in chest press strength for RT (mean difference [MD] = 4.7 kg) and CRF for HIIT (MD = 1.9 ml/min/kg). Within groups, there were significant improvements (p < 0.05) for % lean mass and % fat mass in both RT and HIIT, as well as for upper and lower body muscle strength, CRF, and QoL domains. No major adverse events were noted.</p><p><strong>Conclusion: </strong>Both exercise groups improved body composition, physical fitness, and QoL domains over 12 weeks of RT or HIIT, although mode-specific benefits were apparent with more substantial improvements in lean mass and muscle strength with RT and reductions in % fat mass and improved CRF with HIIT. Tailored exercise programs should address the specific health needs of each patient.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"261-270"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of a novel interstitial lung disease monitoring program in breast cancer patients undergoing treatment with trastuzumab-deruxtecan.","authors":"Julie Williamson, Kristen Kelley, Mary Beth Scholand, Christine Crossno, Shelly Hummert, Patricia Jeppson, Holly Jacobson, Saundra Buys","doi":"10.1007/s10549-024-07586-2","DOIUrl":"10.1007/s10549-024-07586-2","url":null,"abstract":"<p><strong>Purpose: </strong>Interstitial lung disease (ILD) is a well described and potentially fatal complication of trastuzumab-deruxtecan (T-DXd). It is currently unknown if specific monitoring is beneficial in the early detection of ILD in these patients. We describe the efficacy and feasibility of a novel ILD monitoring protocol in breast cancer patients treated with T-DXd at our institution.</p><p><strong>Methods: </strong>An ILD monitoring protocol developed at our institution included baseline and ongoing monitoring with pulmonary function testing (PFTs) and high-resolution chest computed tomography (HRCT) at pre-specified intervals. Patients with metastatic HER2+ or HER2-low breast cancer treated at Huntsman Cancer Institute who received ≥ 1 cycle of T-DXd between 2020 and 2023 were included (n = 68). Patient outcomes and provider adherence to the protocol were retrospectively evaluated. Providers were classified as \"no adherence\" if they did not elect to participate in any elements of the recommended protocol or as \"some adherence\" if they had at least some monitoring per protocol.</p><p><strong>Results: </strong>10 cases of ILD were identified with an incidence of 12% (3/25) in the no adherence group and 16% (7/43) in the some adherence group. ILD cases in the no adherence group included one grade 2 and two grade 5 cases. The some adherence group included three grade 1 and four grade 2 cases.</p><p><strong>Conclusion: </strong>An ILD monitoring protocol consisting of baseline PFTs and ongoing monitoring with PFTs and HRCT is a feasible approach as evidenced by a majority provider adherence rate. This type of protocol may be effective in preventing severe cases of ILD and identifying grade 1 events that may permit treatment re-challenge.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"487-491"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11930870/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeting BMP-1 enhances anti-tumoral effects of doxorubicin in metastatic mammary cancer: common and distinct features of TGF-β inhibition.","authors":"Nuray Erin, Esra Tavşan, Seren Haksever, Azmi Yerlikaya, Chiara Riganti","doi":"10.1007/s10549-024-07592-4","DOIUrl":"10.1007/s10549-024-07592-4","url":null,"abstract":"<p><strong>Purpose: </strong>Mammary carcinoma is comprised heterogeneous groups of cells with different metastatic potential. 4T1 mammary carcinoma cells metastasized to heart (4THM), liver (4TLM) and brain (4TBM) and demonstrate cancer-stem cell phenotype. Using these cancer cells we found thatTGF-β is the top upstream regulator of metastatic process. In addition, secretion of bone morphogenetic protein 1 (BMP-1), which is crucial for the proteolytic release of TGF-β, was markedly high in metastatic mammary cancer cells compared to non-metastatic cells. Although TGF-β inhibitors are in clinical trials, systemic inhibition of TGF-β may produce heavy side effects. We here hypothesize that inhibition of BMP-1 proteolytic activity inhibits TGF-β activity and induces anti-tumoral effects.</p><p><strong>Method and results: </strong>Effects of specific BMP-1 inhibitor on liver and brain metastatic murine mammary cancer cells (4TLM and 4TBM), as well as on human mammary cancer MDA-MB-231 and MCF-7 cells, were examined and compared with the results of TGF-β inhibition. Inhibition of BMP-1 activity markedly suppressed proliferation of cancer cells and enhanced anti-tumoral effects of doxorubicin. Inhibition of BMP-1 activity but not of TGF-β activity decreased colony and spheroid formation. Differential effects of BMP-1 and TGF-β inhibitors on TGF-β secretion was also observed.</p><p><strong>Conclusions: </strong>These results demonstrated for the first time that the inhibition of BMP-1 activity has therapeutic potential for treatment of metastatic mammary cancer and enhances the anti-tumoral effects of doxorubicin.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"563-574"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11953206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142944696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Traditional versus modern approaches to screening mammography: a comparison of computer-assisted detection for synthetic 2D mammography versus an artificial intelligence algorithm for digital breast tomosynthesis.","authors":"Manisha Bahl, Ashwini Kshirsagar, Scott Pohlman, Constance D Lehman","doi":"10.1007/s10549-024-07589-z","DOIUrl":"10.1007/s10549-024-07589-z","url":null,"abstract":"<p><strong>Purpose: </strong>Traditional computer-assisted detection (CADe) algorithms were developed for 2D mammography, while modern artificial intelligence (AI) algorithms can be applied to 2D mammography and/or digital breast tomosynthesis (DBT). The objective is to compare the performance of a traditional machine learning CADe algorithm for synthetic 2D mammography to a deep learning-based AI algorithm for DBT on the same mammograms.</p><p><strong>Methods: </strong>Mammographic examinations from 764 patients (mean age 58 years ± 11) with 106 biopsy-proven cancers and 658 cancer-negative cases were analyzed by a CADe algorithm (ImageChecker v10.0, Hologic, Inc.) and an AI algorithm (Genius AI Detection v2.0, Hologic, Inc.). Synthetic 2D images were used for CADe analysis, and DBT images were used for AI analysis. For each algorithm, an overall case score was defined as the highest score of all lesion marks, which was used to determine the area under the receiver operating characteristic curve (AUC).</p><p><strong>Results: </strong>The overall AUC was higher for 3D AI than 2D CADe (0.873 versus 0.693, P < 0.001). Lesion-specific sensitivity of 3D AI was higher than 2D CADe (94.3 versus 72.6%, P = 0.002). Specificity of 3D AI was higher than 2D CADe (54.3 versus 16.7%, P < 0.001), and the rate of false marks on non-cancer cases was lower for 3D AI than 2D CADe (0.91 versus 3.24 per exam, P < 0.001).</p><p><strong>Conclusion: </strong>A deep learning-based AI algorithm applied to DBT images significantly outperformed a traditional machine learning CADe algorithm applied to synthetic 2D mammographic images, with regard to AUC, sensitivity, and specificity.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"529-537"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11953105/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142944708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of genetic testing criteria for hereditary breast cancer in South Africa.","authors":"T S Osler, M Schoeman, W J S Pretorius, C G Mathew, J Edge, M F Urban","doi":"10.1007/s10549-024-07585-3","DOIUrl":"10.1007/s10549-024-07585-3","url":null,"abstract":"<p><strong>Purpose: </strong>Breast cancer (BC) is the commonest cancer in South African women. A proportion are associated with a pathogenic or likely pathogenic (P/LP) variant in a BC susceptibility gene. Clinical guidelines for genetic testing are used to optimise variant detection while containing costs. We assessed the detection rate in women of diverse ancestries who met the South African National Department of Health (NDOH) testing guidelines, and analysed relationships between testing criteria, participant characteristics and presence of a BRCA1/2 P/LP variant.</p><p><strong>Methods: </strong>Records from 376 women with BC who met NDOH criteria and had genetic testing were included. Demographic, clinical and test result data were collated to describe detection rates according to criteria met, and a multivariate analysis conducted to find variables most frequently associated with a P/LP variant.</p><p><strong>Results: </strong>P/LP variant prevalence in women meeting NDOH testing criteria was 19.9% (75/376). Women meeting ≥ 2 guideline criteria were over twice as likely to have a P/LP variant (OR 2.27, 95%CI 1.27-4.07, p = 0.006), highlighting the guidelines' capacity to stratify risk. Family history (OR 1.97; 95%CI 1.05-3.70, p = 0.03) and Black African ancestry (OR 2.58; 95%CI 1.28-5.18, p < 0.01) were independently associated with having a BRCA1/2 P/LP variant when controlling for other variables. Notably, although Black African participants were less likely to report a family history, those that did had higher odds of a P/LP variant in BRCA1/2.</p><p><strong>Conclusion: </strong>These results demonstrate the usefulness of the NDOH guidelines in women of diverse ancestries and provide insight into the factors associated with P/LP variants in understudied African populations.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"477-486"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11930871/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142944641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Breast hamartomas associated with epithelial atypia and malignancy: are there specific clinical, radiological or pathological features that identify at risk patients?","authors":"Naima Tariq, Shefali Dani, Purnima Makhija, Madhuri V Warren","doi":"10.1007/s10549-024-07577-3","DOIUrl":"10.1007/s10549-024-07577-3","url":null,"abstract":"<p><strong>Purpose: </strong>Breast hamartomas are rarely associated with epithelial atypia or malignancy. Since the introduction of digital mammography in the UK from 2008, hamartoma detection has increased. The aim of this study was to identify if there are characteristic clinical, radiological or histological features that distinguish hamartomas with intralesional atypia/malignancy (complex hamartomas, CH) or ipsilateral/contralateral atypia/malignancy (non-CH) from those without atypia/malignancy at diagnosis (other benign hamartomas, BH).</p><p><strong>Methods: </strong>We performed a retrospective single-institution review of 450 hamartomas reported between 2010 and 2023. Anonymised H&E sections and imaging of CH and non-CH were reviewed to identify distinguishing features.</p><p><strong>Results: </strong>13,441 benign breast lesions were biopsied/resected between 2010 and 2023 including 450 hamartomas (3.3%), 19 of which (4.2%) were associated with atypia or malignancy. 14 were analysed further (7 CH; 7 non-CH). The mean age of CH plus non-CH patients was significantly higher than patients with BH (47.5 vs. 40.6 years; p = 0.03). The mean size of CH was greater than non-CH (32.1 mm vs.17.6 mm; p = 0.06). There was a statistically significantly higher incidence of atypical/malignant lobular lesions (ALH/LCIS/ILC) in CH vs. non-CH (42.9% vs 0%; p = 0.05). MRI was performed in 2 CH and 3 non-CH; in all 5 the associated malignancy was detected. There was no significant difference between the CH and non-CH group in ultrasound/mammographic features, other hamartoma histological features or other associated benign breast changes.</p><p><strong>Conclusions: </strong>Ultrasound/mammogram are not sufficiently sensitive to identify hamartomas with associated atypia/malignancy. Certain hamartoma features may preferentially be associated with atypia/malignancy and which merit further radiological and/or detailed histological investigation.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"393-404"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142811890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}