Clinical breast cancer最新文献

{"title":"A Systematic Review With Individual Patient Data Meta-analysis on Characteristics and Outcomes of Patients With Metaplastic Breast Carcinoma.","authors":"Charlotte Caroline Hettwer, Georg W Wurschi, Klaus Pietschmann","doi":"10.1016/j.clbc.2025.06.002","DOIUrl":"https://doi.org/10.1016/j.clbc.2025.06.002","url":null,"abstract":"<p><p>Metaplastic breast carcinoma (MBC) is a rare disease for which there is limited evidence from large prospective trials. This systematic review analyzed the characteristics, treatments, and outcomes of MBC patients reported in the literature until October 2024. PubMed and Web of Science were searched systematically for case reports or case series on MBC using predefined search terms according to PRISMA guidelines for systematic reviews (last search: October 2024; registered with Prospero: ID CRD42022356323). Three hundred eighty-four English-language articles (1978-2024) reporting on 491 patients diagnosed with MBC were included. The median age at diagnosis was 53 years (range, 15-98 years). The median overall survival (OS) was 75.0 months, and median progression-free survival (PFS) was 36.0 ± 13.6 months (standard error). The most frequent locations of recurrence were the lung and local areas. Univariate analysis revealed that increasing tumor size, publication before the year 2000, lymphadenopathy, metastasis, distant recurrence, and histopathological subtype significantly influenced OS (P < .05). Distant recurrence, metastasis, and year of publication before 2000 were identified as independent predictors of survival through multivariate Cox regression (P < .05). Tumor size, the proliferation index (Ki-67), and histopathological subtype significantly influenced PFS (P < .05). Adjuvant therapy improved OS and PFS in patients with localized disease (M0) (P < .05). This is the first systematic analysis of MBC, showing heterogeneous treatment patterns for localized and metastatic disease. Intensive multimodal therapy may improve tumor control and warrants further investigation. The significance of these results is limited by their retrospective nature and the inhomogeneity of single-case reports.</p>","PeriodicalId":10197,"journal":{"name":"Clinical breast cancer","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144616568","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":"A Deep-Learning Solution Identifies HER2 Negative Cases and Provides ER and PR Results From H&E-Stained Breast Cancer Specimens: A Blind Validation Study","authors":"Elizabeth Walsh ,&nbsp;Salim Arslan ,&nbsp;André Geraldes ,&nbsp;Rebecca Millican-Slater ,&nbsp;Andrew M. Hanby ,&nbsp;Nicholas Bennett ,&nbsp;Bejal Mistry ,&nbsp;Julian Schmidt ,&nbsp;Steffen Wolf ,&nbsp;Cher Bass ,&nbsp;Foivos Ntelemis ,&nbsp;Narender Kumar ,&nbsp;Pahini Pandya ,&nbsp;Nicolas M. Orsi","doi":"10.1016/j.clbc.2025.06.005","DOIUrl":"10.1016/j.clbc.2025.06.005","url":null,"abstract":"<div><h3>Background</h3><div>PANProfiler Breast is a UKCA-marked, deep-learning image analysis tool. It provides oestrogen and progesterone receptor (ER/PR) status and identifies human epidermal growth factor receptor-2 (HER2) negativity from whole slide images (WSIs) of haematoxylin and eosin (H&amp;E)-stained breast cancer (BC) tissue. This study blindly validated PANProfiler’s prediction of ER/PR status and identification of HER2 negative status.</div></div><div><h3>Materials and Methods</h3><div>Three cohorts of WSIs of H&amp;E-stained BC specimens were used for calibration (200 cases, 344 WSIs) and blind validation (200 cases, 348 WSIs). For the blind validation, PANProfiler analysed WSIs to provide results for ER, PR (\"Positive,\" “Negative,” or “Indeterminate”) and HER2 (\"Negative” or “Indeterminate”). These were compared to the corresponding pathology reports. To discern PANProfiler’s performance, concordance and other metrics were calculated, including test replacement rate (TRR) (cases PANProfiler produced a definitive result for) and complete test replacement rate (CTTR) (cases with definitive results for all markers).</div></div><div><h3>Results</h3><div>Following blind validation, concordance for ER and PR status across the cohorts was 90%-93% and 86%-91%, respectively. The TRR for ER was 70%-84% and 55%-84% for PR. For HER2 negative cases, concordance across cohorts was 91%-100%, with a TRR ranging from 22% to 27%. CTTRs for the cohorts were between 18% and 20%.</div></div><div><h3>Conclusion</h3><div>PANProfiler Breast showed high concordance for ER and PR status and identified HER2 negativity from WSIs of H&amp;E-stained BCs. For HER2 negativity, whilst the TRR was lower than that of ER and PR, the high level of concordance indicated its reliability in identifying negative cases.</div></div>","PeriodicalId":10197,"journal":{"name":"Clinical breast cancer","volume":"25 7","pages":"Pages 650-657"},"PeriodicalIF":2.5,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144616567","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":"Development and Validation of Preoperative Ultrasound-Based Risk Scoring Systems for Predicting Axillary Lymph Node Metastasis in Breast Cancer: A Multicenter, Retrospective Study.","authors":"Jieyi Ping, Hailing Zha, Baoding Chen, Jun Gu, Liwen Du, Mengjun Cai, Minjia Lin, Xiaoan Liu, Hui Wang, Cuiying Li","doi":"10.1016/j.clbc.2025.06.007","DOIUrl":"https://doi.org/10.1016/j.clbc.2025.06.007","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to develop and validate 2 preoperative ultrasound (US)-based risk-scoring systems to predict axillary lymph node (ALN) metastasis and the number of metastatic ALNs (≤ 2 vs. > 2) in patients with breast cancer.</p><p><strong>Method: </strong>A multicenter retrospective study included 1194 women with breast cancer from 3 institutions. Institutions 1 and 2 were used for training (n = 643) and testing (n = 275), while 276 patients from Institution 3 served as the validation set. Multivariate logistic regression was used to construct 2 risk-scoring systems based on US features. Predictive performance was assessed using area under the curve (AUC), calibration plots, and decision curve analysis.</p><p><strong>Results: </strong>The risk-scoring system for ALN metastasis (presence vs. absence), based on the longest diameter and margin of the mass, mass pathology, long-to-short axis ratio of the ALN, cortical morphological features, and blood flow type of the ALN, achieved AUCs of 0.86, 0.81, and 0.84 in the training, testing, and validation sets, respectively. The risk-scoring system for predicting the number of metastatic ALNs (≤ 2 vs. >2), based on US (the longest diameter and the number of suspicious ALNs on US), achieved AUCs of 0.78, 0.75, and 0.78 in the training, testing, and validation sets, respectively. Calibration plots showed good model calibration, and decision curve analysis confirmed the clinical utility of both models.</p><p><strong>Conclusion: </strong>The 2 preoperative US-based risk-scoring systems effectively predicted ALN metastasis and the number of metastatic ALNs, aiding clinicians in assessing the risk of ALN involvement in breast cancer patients.</p>","PeriodicalId":10197,"journal":{"name":"Clinical breast cancer","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599578","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":"Relationship Between Patient Age, Mammographic Density and Background Parenchymal Enhancement on Contrast-Enhanced Mammography.","authors":"Y Huynh, G B Mann, C Nickson, A K Rose","doi":"10.1016/j.clbc.2025.06.006","DOIUrl":"https://doi.org/10.1016/j.clbc.2025.06.006","url":null,"abstract":"<p><strong>Background: </strong>Breast magnetic resonance imaging (MRI) and contrast-enhanced mammography (CEM) have higher sensitivity than digital mammography, especially in women with high mammographic density (MD). However, high background parenchymal enhancement (BPE) can mask small lesions. Through the addition of kinetics, MRI performs better than CEM when BPE is high. This study assessed the extent to which patient age and MD are indicators of BPE on CEM, to support decision-making about selecting CEM or MRI.</p><p><strong>Method: </strong>Retrospective analysis of 532 CEM exams performed between July 1, 2019 and June 30, 2020 at a single institution in eligible patients. Patient age, MD and BPE were recorded and the relationship between these factors was analyzed using Spearman's rank-order correlation and Fisher's exact test.</p><p><strong>Results: </strong>There is a clear correlation between age, MD and BPE on CEM. Across all age groups, high BPE levels (moderate or marked) were more common in women with dense breasts (BI-RADS C/D MD) than nondense breasts (BI-RADS A/B MD) (51% versus 4%). High BPE was common in women younger than 60 with dense breasts (58%). The incidence of high BPE was low (7%) amongst all women 60 and over.</p><p><strong>Conclusions: </strong>Women under 60 with dense breasts are likely to have high BPE on CEM and therefore may benefit more from MRI than CEM if they require a contrast-based investigation. Women 60 years and over, or women with nondense breasts at any age, are more likely to have low BPE and may be suitable for CEM.</p>","PeriodicalId":10197,"journal":{"name":"Clinical breast cancer","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144667312","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":"Sequential Therapy With HER2 Tyrosine Kinase Inhibitors in Patients With HER2-Positive Metastatic Breast Cancer","authors":"Elena Shagisultanova ,&nbsp;Hannah Parris ,&nbsp;Long Liu ,&nbsp;Stephanie Giangiuli ,&nbsp;Dexiang Gao ,&nbsp;Jennifer R. Diamond ,&nbsp;Radhika Acharya-Leon ,&nbsp;Peter Kabos ,&nbsp;Virginia F. Borges","doi":"10.1016/j.clbc.2025.06.004","DOIUrl":"10.1016/j.clbc.2025.06.004","url":null,"abstract":"<div><h3>Purpose</h3><div>HER2-targeted tyrosine kinase inhibitors (TKIs) tucatinib, lapatinib and neratinib are standard agents for treatments of HER2-positive (HER2+) metastatic breast cancer. Due to their penetration through the blood-brain barrier, these agents are especially beneficial for patients with brain metastases. To date, limited data exists on the sequential use of different HER2-targeted TKIs, and it is unknown if reusing the same TKI as a part of different treatment regimens provides clinical benefits.</div></div><div><h3>Methods</h3><div>We performed a retrospective single institution study (IRB 23-2337) and identified <em>N</em> = 105 patients with HER2+ metastatic breast cancer and a TKI regimen of at least 1 month. We then performed a manual abstraction to identify patients who had at least 2 TKI regimens (<em>N</em> = 24) and estimated time on treatment (median and range in months). Best responses to TKI treatments were evaluated by MD review. Patients were censored at the time of the last follow up when the end of treatment data were not available.</div></div><div><h3>Results</h3><div>In our patient cohort, 14 of 24 patients (58%) stayed on the second or third TKI regimen for greater than 6 months, and 10 of 24 patients (42%) were on the subsequent TKI regimen(s) for longer than the first one. Time on a non-TKI regimen between the first and second TKI was not associated with the duration of benefit from the second TKI.</div></div><div><h3>Conclusion</h3><div>Our data support using different HER2-targeted TKI regimens in sequence, offering additional effective treatment options for patients with HER2+ metastatic breast cancer, including patients with brain metastases.</div></div>","PeriodicalId":10197,"journal":{"name":"Clinical breast cancer","volume":"25 7","pages":"Pages 643-649.e1"},"PeriodicalIF":2.5,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144559384","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":"The Role of 473 Intestinal Microbiota and 91 Inflammatory Factors in Breast Cancer Risk: Insights From Mendel Randomization and its Implications for Diagnosis and Treatment.","authors":"Ruisen Zhu, Jin Qiu, Dehai Xian, Kaiwen Yang","doi":"10.1016/j.clbc.2025.06.001","DOIUrl":"https://doi.org/10.1016/j.clbc.2025.06.001","url":null,"abstract":"<p><strong>Background: </strong>The association between gut microbiota, inflammatory factors, and breast cancer risk has attracted significant attention in recent years. However, the causal relationships remain unclear.</p><p><strong>Methods: </strong>A bidirectional 2-sample Mendelian Randomization (MR) analysis was conducted to explore the causal relationships among 473 gut microbiota taxa, 91 inflammatory factors, and breast cancer. Mediation analysis was performed to assess the potential role of inflammatory factors in mediating the link between gut microbiota and breast cancer risk. At the same time, we used external datasets for validation.</p><p><strong>Results: </strong>MR analysis revealed that gut microbiota taxa, such as Bacteroides eggerthii and Faecalicatena lactaris, were negatively associated with breast cancer risk, suggesting a protective effect. In contrast, other taxa, including Bacteroides stercoris and Bifidobacteriaceae, were positively associated with breast cancer risk. Several inflammatory factors, such as Caspase 8, CXCL10, FLT3L, IL-33, and LIFR, demonstrated negative associations with breast cancer risk, indicating potential protective roles. Mediation analysis identified FLT3L as a partial mediator in the relationship between Faecalicatena lactaris and breast cancer risk, as well as in the association between Mycoplasmoidaceae and breast cancer.</p><p><strong>Conclusions: </strong>This study uncovers potential causal relationships between gut microbiota, inflammatory factors, and breast cancer development, offering new insights into biological targets and intervention strategies for breast cancer prevention and treatment.</p>","PeriodicalId":10197,"journal":{"name":"Clinical breast cancer","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144564635","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":"Utilization and Fertility Preservation Outcomes in Women Undergoing Embryo Cryopreservation Before Breast Cancer Treatment: A Meta-Analysis","authors":"Volkan Turan ,&nbsp;Ozgur Oktem ,&nbsp;Heejung Bang ,&nbsp;Kutluk H. Oktay","doi":"10.1016/j.clbc.2025.06.003","DOIUrl":"10.1016/j.clbc.2025.06.003","url":null,"abstract":"<div><div>Our aim was to assess fertility preservation (the proportion of women who had at least 1 live birth) and utilization rates (the proportion of women who utilized their cryopreserved embryos) rates among women who cryopreserved their embryos before breast cancer treatments. PubMed and Cochrane library database were searched until December 2024. We included all studies that reported pregnancy outcomes, the number of women who returned for frozen embryo transfer, and the number of women who preserved their fertility. The primary outcome measures were the utilization and fertility preservation rates. Secondary outcome measures were implantation, clinical pregnancy, and live birth rates. Of the 12 studies, 9 met the criteria, encompassing &gt;2126 women with breast cancer who cryopreserved their embryos for fertility preservation. In 9 studies that reported the total number of attempts, 424 women underwent 863 embryo transfers. Based on those studies, the clinical pregnancy and live birth rates were 50% (95% CI: 35-65, I²: 80%) and 33% (95% CI: 22-46, I²: 76%), respectively. The utilization and fertility preservation rates were 18% (95% CI: 9-32, I²: 95%) and 39% (95% CI: 29-51, I²: 48%), respectively, all from random-effects models. Fertility preservation success with embryos cryopreserved before breast cancer treatments seems to be promising. However, the utilization rate of cryopreserved embryos is low. Additional studies with larger sample size and longer follow up are required to evaluate the long-term utility rates.</div></div>","PeriodicalId":10197,"journal":{"name":"Clinical breast cancer","volume":"25 7","pages":"Pages 617-624.e1"},"PeriodicalIF":2.5,"publicationDate":"2025-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144552484","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":"Adjuvant Chemotherapy in Early Triple-Negative Breast Cancer (T1a-c N0M0): A Systematic Review and Meta-Analysis","authors":"Francisco Cezar Aquino de Moraes ,&nbsp;Pedro Henrique de Souza Wagner ,&nbsp;Ana Beatriz Nardelli da Silva ,&nbsp;Gustavo Tadeu Freitas Uchôa Matheus ,&nbsp;Maria Cristina Figueroa Magalhães ,&nbsp;Rommel Mario Rodríguez Burbano","doi":"10.1016/j.clbc.2025.05.022","DOIUrl":"10.1016/j.clbc.2025.05.022","url":null,"abstract":"<div><div><span><span>Triple-negative breast cancer (TNBC) is an aggressive subtype with limited treatment options and a high risk of early metastasis. While </span>adjuvant chemotherapy (AdjCT) is standard for TNBC, its benefit in small, node-negative tumors (T1a, T1b, T1c) remains uncertain. This meta-analysis evaluates the survival impact of AdjCT in early-stage TNBC, focusing on </span>overall survival (OS), breast cancer-specific survival (BCSS), and disease-free survival (DFS).</div><div><span><span>A comprehensive search was conducted in PubMed, the </span>Cochrane Library<span>, and Embase, yielding a total of 2089 studies. Hazard ratios (HR) and odds ratios (OR) were estimated using a random-effects model with 95% confidence intervals (CI). Heterogeneity was assessed with I², considering </span></span><em>P</em><span> &lt; .05 and I² &gt; 25% as significant. Our meta-analysis included 12 cohort studies, comprising a total of 48,371 patients, of whom 32,341 were included in the AdjCT group. AdjCT improved OS overall (HR: 0.75; 95% CI, 0.64-0.88; </span><em>P</em> &lt; .001; I² = 83%), in T1b (HR: 0.73; <em>P</em> = .013; I² = 74%) and T1c tumors (HR: 0.73; <em>P</em> = .19; I² = 89%), but not in T1a (HR: 0.88; <em>P</em> = 0.646). BCSS showed a significant overall benefit (HR: 0.21; <em>P</em> = .042; I² = 98%), but no difference in T1a, T1b, or T1c subgroups. AdjCT also significantly improved 5-year DFS (OR: 2.08; 95% CI, 1.32-3.29; <em>P</em> = .002; I² = 0%). AdjCT improves OS in early-stage TNBC, particularly in T1b and T1c tumors, while significantly enhancing BCSS and DFS. No survival benefit was observed in T1a tumors, emphasizing the need for stage-based AdjCT decisions.</div></div>","PeriodicalId":10197,"journal":{"name":"Clinical breast cancer","volume":"25 7","pages":"Pages 625-633"},"PeriodicalIF":2.5,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144574935","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":"Letter to the Editor Regarding the Article “In Triple-Negative Breast Cancer: Correlation Among Metabolic Syndrome, S100A7/cPLA2 Expression and the Efficacy of Neoadjuvant Chemotherapy”","authors":"Wen-Rui Shen MB ,&nbsp;Shi-Liang Chen MSc ,&nbsp;Zhe-Zhong Zhang MSc","doi":"10.1016/j.clbc.2025.05.016","DOIUrl":"10.1016/j.clbc.2025.05.016","url":null,"abstract":"","PeriodicalId":10197,"journal":{"name":"Clinical breast cancer","volume":"25 7","pages":"Pages e1008-e1009"},"PeriodicalIF":2.5,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144511566","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":"Distribution of HER2 Low in Tumors of Patients With Hereditary Breast Cancer According to Germline Pathogenic or Likely Pathogenic Genetic Variants","authors":"Ana Elisa Ribeiro da Silva Cabello,&nbsp;Cesar Cabello,&nbsp;Bárbara Narciso Duarte,&nbsp;Christine Elisabete Rubio Alem,&nbsp;Sandra Regina Campos Teixeira,&nbsp;Leonardo Roberto da Silva,&nbsp;Geisilene Russano Paiva,&nbsp;Susana Ramalho,&nbsp;Márcio Lopes de Souza,&nbsp;Luiz Carlos Zeferino","doi":"10.1016/j.clbc.2025.05.017","DOIUrl":"10.1016/j.clbc.2025.05.017","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the presentation of the HER2 “Low” subtype in high-risk hereditary breast cancer according to the presence of germline variants detected through a multigene panel.</div></div><div><h3>Methods</h3><div>This prospective cohort study, conducted between November 2021 and October 2022, included women attending the high-risk outpatient clinic at the University of Campinas (UNICAMP), who were diagnosed before age 45 or met NCCN (version 3.2021) criteria for germline genetic testing, or had at least 1 first-degree relative with breast, ovarian, and/or prostate cancer. Patients completed a questionnaire before undergoing genetic testing and received counseling based on their test results.</div></div><div><h3>Results</h3><div>A total of 184 patients and 198 breasts were studied. Pathogenic or likely pathogenic variants (PV/LPV) were detected in 36% (67/184) of patients. In general analysis, using HER2 +3 as the reference, other HER2 expressions were associated with PV/LPV as follows: 0 (OR = 5.58; CI 2.29-13.58), +1 (OR = 5.76; CI 2.0-16.59), +2 (ISH-), (OR = 4.31; CI 1.11-16.59), +2 (ISH +) (OR = 4.77; CI 1.75-12.95). In the analysis of BRCA1 and BRCA2 genes only, the HER2 +2 (ISH-) subtype was not associated with PV/LPV; associations for other subtypes included 0 (OR = 6.61; CI 2.70-16.19), +1 (OR = 5.01; CI 1.68-14.94), +2 (ISH +) (OR = 3.63; CI 1.35-9.82). For non-BRCA genes, neither HER2 0 nor HER2 + (ISH-) was associated with PV/LPV; however, +1 (OR = 4.71; CI 1.25-17.67) and +2 (ISH +) (OR = 4.74; CI 1.32-17.01) showed associations.</div></div><div><h3>Conclusion</h3><div>Pathogenic or likely pathogenic variants in genes associated with hereditary breast cancer are associated with different HER2 expression patterns, including the HER2 Low group.</div></div>","PeriodicalId":10197,"journal":{"name":"Clinical breast cancer","volume":"25 6","pages":"Pages 575-582"},"PeriodicalIF":2.9,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144339960","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}