Journal of Breast Cancer最新文献

{"title":"Zinc Finger Protein 639 Expression Is a Novel Prognostic Determinant in Breast Cancer.","authors":"Fang Lee, Shih-Ping Cheng, Ming-Jen Chen, Wen-Chien Huang, Yi-Min Liu, Shao-Chiang Chang, Yuan-Ching Chang","doi":"10.4048/jbc.2024.0224","DOIUrl":"10.4048/jbc.2024.0224","url":null,"abstract":"<p><strong>Purpose: </strong>Zinc finger protein 639 (ZNF639) is often found within the overlapping amplicon of <i>PIK3CA</i>, and previous studies suggest its involvement in the pathogenesis of esophageal and oral squamous cell carcinomas. However, its expression and significance in breast cancer remain uncharacterized.</p><p><strong>Methods: </strong>Immunohistochemical analysis of ZNF639 was performed using tissue microarrays. Functional studies, including colony formation, Transwell cell migration, and <i>in vivo</i> metastasis, were conducted on breast tumor cells with ZNF639 knockdown via small interfering RNA transfection.</p><p><strong>Results: </strong>Reduced ZNF639 immunoreactivity was observed in 82% of the breast cancer samples, independent of hormone receptor and human epidermal growth factor receptor 2 status. In multivariate Cox regression analyses, ZNF639 expression was associated with favorable survival outcomes, including recurrence-free survival (hazard ratio, 0.35; 95% confidence interval [CI], 0.14-0.89) and overall survival (hazard ratio, 0.41; 95% CI, 0.16-1.05). ZNF639 knockdown increased clonogenicity, cell motility, and lung metastasis in NOD/SCID mice. Following the ZNF639 knockdown, the expression of Snail1, vimentin, and C-C chemokine ligand 20 (CCL20) was upregulated, and the changes in cell phenotype mediated by ZNF639 were reversed by the subsequent knockdown of CCL20.</p><p><strong>Conclusion: </strong>Low ZNF639 expression is a novel prognostic factor for recurrence-free survival in patients with breast cancer.</p>","PeriodicalId":15206,"journal":{"name":"Journal of Breast Cancer","volume":" ","pages":"86-98"},"PeriodicalIF":2.2,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046354/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular Characteristics of Prognosis and Chemotherapy Response in Breast Cancer: Biomarker Identification Based on Gene Mutations and Pathway.","authors":"Liyan Li, Hongwei Lyu, Qian Chen, Yating Bai, Jing Yu, Ruigang Cai","doi":"10.4048/jbc.2024.0177","DOIUrl":"10.4048/jbc.2024.0177","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to investigate the molecular characteristics associated with better prognosis in breast cancer.</p><p><strong>Methods: </strong>We performed targeted sequencing of 962 genes in 56 samples, categorizing them into long-term and short-term survival groups as well as chemotherapy-sensitive and chemotherapy-resistant groups for further analyses.</p><p><strong>Results: </strong>The results indicated that the tumor mutational burden values were significantly higher in the short-term survival and chemotherapy-resistant groups (<i>p</i> = 0.008 and <i>p</i> = 0.003, respectively). Somatic mutation analysis revealed that the mutation frequencies of <i>BCL9L</i> and <i>WHSC1</i> were significantly lower in the long-term survival group than those in the short-term survival group (<i>p</i> = 0.029 and <i>p</i> = 0.024, respectively). CREB-regulated transcription coactivator 1 (<i>CRTC1</i>) mutations occurred significantly more frequently in the chemotherapy-resistant group (<i>p</i> = 0.027) and were associated with shorter progression-free survival (<i>p</i> = 0.036). Signature weighting analysis showed a significant increase in Signature.3, which is associated with homologous recombination repair deficiency in the chemotherapy-sensitive group (<i>p</i> = 0.045). Conversely, signatures related to effective DNA repair mechanisms, Signature.1 and Signature.15, were significantly reduced (<i>p</i> = 0.002 and <i>p</i> < 0.001, respectively). Kyoto Encyclopedia of Genes and Genomes pathway analysis indicated that gene mutations were significantly enriched in the JAK-STAT signaling pathway.</p><p><strong>Conclusion: </strong>This study, through intergroup comparative analysis, found that immunotherapy (using programmed death 1/programmed death-ligand 1 inhibitors) may improve the prognosis of patients with short survival and chemotherapy resistance. Additionally, the study revealed that mutations in <i>BCL9L</i> and <i>WHSC1</i> could serve as biomarkers for breast cancer prognosis, while <i>CRTC1</i> mutations and Signature.3 could predict chemotherapy response. The study also found that the JAK-STAT pathway might be a potential therapeutic target for chemotherapy resistance. Therefore, this study identifies molecular characteristics that influence the prognosis of breast cancer patients, providing important theoretical insights for the development of personalized treatment strategies.</p>","PeriodicalId":15206,"journal":{"name":"Journal of Breast Cancer","volume":" ","pages":"61-71"},"PeriodicalIF":2.2,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046353/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Utilizing miR-34a-Loaded HER2-Targeting Exosomes to Improve Breast Cancer Treatment: Insights From an Animal Model.","authors":"Woo Young Sun, Do-Sang Lee, Jung Hyun Park, Ok-Hee Kim, Ho Joong Choi, Say-June Kim","doi":"10.4048/jbc.2024.0262","DOIUrl":"https://doi.org/10.4048/jbc.2024.0262","url":null,"abstract":"<p><strong>Purpose: </strong>Exosomes, nanoscale vesicles with high biocompatibility, were engineered to express human epidermal growth factor receptor 2 (HER2)-binding peptides and carry miR-34a, targeting HER2 and programmed death-ligand 1 (PD-L1)-positive breast cancer cells.</p><p><strong>Methods: </strong>An <i>in vivo</i> xenograft breast cancer model was established by subcutaneously injecting breast cancer cells of both HER2 and PD-L1 positivity (SK-BR3 cells) into the buttocks of BALB/c nude mice. miR-34a-loaded HER2-targeting exosomes, termed tEx[34a], were engineered by transfecting human adipose-derived mesenchymal stem cells with the pDisplay vector to express HER2-binding peptides (P51 peptide). Purified exosomes were then loaded with miR-34a, a tumor-suppressor miRNA, using the Exo-Fect transfection kit, creating tEx[34a] for targeted cancer therapy.</p><p><strong>Results: </strong>Intravenous administration of miR-34a-loaded HER2-targeting exosomes, referred to as tEx[34a], demonstrated superior targetability compared to other materials, such as natural exosomes, miR-34a-loaded exosomes, and unloaded HER2-targeting exosomes. <i>In vivo</i> experiments using mouse breast cancer xenograft models revealed that the administration of tEx[34a] resulted in the smallest tumor size and lowest tumor weight when compared to all other groups. Notably, tEx[34a] treatment significantly reduced PD-L1 expression in breast cancer tissue compared to the other groups. Furthermore, tEx[34a] administration led to the highest upregulation of pro-apoptotic markers (Bax, PARP, and BIM) and the lowest downregulation of the anti-apoptotic marker Bcl-xL, as confirmed through various methods including RT-PCR, Western blot analysis, and immunofluorescence.</p><p><strong>Conclusion: </strong>MiR-34a-loaded HER2-targeting exosomes demonstrate strong anticancer efficacy by selectively binding to HER2-positive breast cancer cells and effectively suppressing PD-L1 expression.</p>","PeriodicalId":15206,"journal":{"name":"Journal of Breast Cancer","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Incidence of Occult Malignancy in Contralateral Risk Reducing Mastectomy Among Affected Breast Cancer Gene Mutation Carriers in South Korea.","authors":"Cho Eun Lee, Dong Seung Shin, Ki Jo Kim, Seok Jin Nam, Seok Won Kim, Jonghan Yu, Byung Joo Chae, Se Kyung Lee, Jai Min Ryu, Goo-Hyun Mun, Jai-Kyong Pyon, Byung-Joon Jeon, Kyongje Woo, Jeong Eon Lee","doi":"10.4048/jbc.2024.0219","DOIUrl":"10.4048/jbc.2024.0219","url":null,"abstract":"<p><strong>Purpose: </strong>Breast cancer gene (<i>BRCA</i>) mutation is a well-known risk factor for breast cancer, and clinical interest in prophylactic mastectomy has increased in recent years. We investigated patients who were <i>BRCA</i> mutation carriers and underwent contralateral risk-reducing mastectomy (RRM), focusing on the incidence of occult malignancy after contralateral RRM.</p><p><strong>Methods: </strong>Prospectively collected data of patients with breast cancer treated at a single institution were retrospectively reviewed. Patients who underwent RRM with <i>BRCA</i> mutation who underwent RRM between January 2010 and November 2023 were included in this study. Among patients who underwent contralateral RRM, those with a primary cancer diagnosis were included, and those with occult malignancy on the contralateral RRM side were reviewed additionally. The demographics and pathologies of both primary breast cancer and occult malignancies were evaluated.</p><p><strong>Results: </strong>In our institution, 925 patients were identified as <i>BRCA</i> mutation carriers, and 320 patients underwent contralateral RRM along with primary breast cancer surgery. <i>BRCA2</i> mutation occurred more frequently (54.8%) in the overall <i>BRCA</i> mutation cohort. Furthermore, we reviewed 320 patients diagnosed with breast cancer and detected as <i>BRCA</i> mutation carriers who underwent contralateral RRM; high proportion of them were <i>BRCA1</i> mutation carriers. Interestingly, we found a low incidence of only seven patients (2.2%) with occult malignancy on contralateral RRM side, which is different from that reported in other nations.</p><p><strong>Conclusion: </strong>The incidence of occult malignancy in the contralateral breast of breast cancer patients with breast cancer with <i>BRCA</i> mutation is significantly low, and may be influenced by several factors. Increased utilization of screening and advancements in diagnostic technologies in South Korea have reduced the chance of occult malignancy in RRM, and a variety of pathologic examination methods may affect the rate of incidence.</p>","PeriodicalId":15206,"journal":{"name":"Journal of Breast Cancer","volume":"28 1","pages":"1-10"},"PeriodicalIF":2.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885854/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Letter to the Editor: \"Risk of Lymphedema After Sentinel Node Biopsy in Patients With Breast Cancer\".","authors":"Anke Bergmann, Mauro Figueiredo Carvalho de Andrade","doi":"10.4048/jbc.2024.0286","DOIUrl":"10.4048/jbc.2024.0286","url":null,"abstract":"","PeriodicalId":15206,"journal":{"name":"Journal of Breast Cancer","volume":"28 1","pages":"46-47"},"PeriodicalIF":2.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885853/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply to \"Letter to the Editor: Risk of Lymphedema After Sentinel Node Biopsy in Patients With Breast Cancer\".","authors":"Jinyoung Byeon, Eunhye Kang, Ji-Jung Jung, Jong-Ho Cheun, Kwan Sik Seo, Hong-Kyu Kim, Han-Byoel Lee, Wonshik Han, Hyeong-Gon Moon","doi":"10.4048/jbc.2024.0299","DOIUrl":"10.4048/jbc.2024.0299","url":null,"abstract":"","PeriodicalId":15206,"journal":{"name":"Journal of Breast Cancer","volume":"28 1","pages":"48-49"},"PeriodicalIF":2.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885855/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of HER2-Low Status on Pathologic Complete Response and Survival Outcome Among Breast Cancer Patients Undergoing Neoadjuvant Chemotherapy.","authors":"Young Joo Lee, Tae-Kyung Yoo, Sae Byul Lee, Il Yong Chung, Hee Jeong Kim, Beom Seok Ko, Jong Won Lee, Byung Ho Son, Sei Hyun Ahn, Hyehyun Jeong, Jae Ho Jung, Jin-Hee Ahn, Kyung Hae Jung, Sung-Bae Kim, Hee Jin Lee, Gyungyub Gong, Jisun Kim","doi":"10.4048/jbc.2024.0268","DOIUrl":"10.4048/jbc.2024.0268","url":null,"abstract":"<p><strong>Purpose: </strong>This study analyzed the pathological complete response (pCR) rates, long-term outcomes, and biological features of human epidermal growth factor receptor 2 (HER2)-zero, HER2-low, and HER2-positive breast cancer patients undergoing neoadjuvant treatment.</p><p><strong>Methods: </strong>This single-center study included 1,667 patients who underwent neoadjuvant chemotherapy from 2008 to 2014. Patients were categorized by HER2 status, and their clinicopathological characteristics, chemotherapy responses, and recurrence-free survival (RFS) rates were analyzed.</p><p><strong>Results: </strong>Patients with HER2-low tumors were more likely to be older (<i>p</i> = 0.081), have a lower histological grade (<i>p</i> < 0.001), and have hormone receptor (HorR)-positive tumors (<i>p</i> < 0.001). The HER2-positive group exhibited the highest pCR rate (23.3%), followed by the HER2-zero (15.5%) and HER2-low (10.9%) groups. However, the pCR rate did not differ between HER2-low and HER2-zero tumors in the HorR-positive or HorR-negative subgroups. The 5-year RFS rates increased in the following order: HER2-low, HER2-positive, and HER2-zero (80.0%, 77.5%, and 74.5%, respectively) (log-rank test <i>p</i> = 0.017). A significant survival difference between patients with HER2-low and HER2-zero tumors was only identified in HorR-negative tumors (5-year RFS for HER2-low, 74.5% vs. HER2-zero, 66.0%; log-rank test <i>p</i>-value = 0.04). Multivariate survival analysis revealed that achieving a pCR was the most significant factor associated with improved survival (hazard ratio [HR], 4.279; <i>p</i> < 0.001). Compared with HER2-zero, the HRs for HER2-low and HER2-positive tumors were 0.787 (<i>p</i> = 0.042) and 0.728 (<i>p</i> = 0.005), respectively. After excluding patients who received HER2-targeted therapy, patients with HER2-low tumors exhibited better RFS than those with HER2-zero (HR 0.784, <i>p</i> = 0.04), whereas those with HER2-positive tumors exhibited no significant difference compared with those with HER2-low tumors (HR, 0.975; <i>p</i> = 0.953).</p><p><strong>Conclusion: </strong>Patients with HER2-low tumors had no significant difference in pCR rate compared to HER2-zero but showed better survival, especially in HorR-negative tumors. Further investigation into biological differences is warranted.</p>","PeriodicalId":15206,"journal":{"name":"Journal of Breast Cancer","volume":"28 1","pages":"11-22"},"PeriodicalIF":2.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885851/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differences in HER2-0 and HER2-low Breast Cancer: Androgen Receptor and Programmed Death Ligand 1 as Predictive Factors.","authors":"Xiaoqi Zhang, Ciqiu Yang, Yitian Chen, Junsheng Zhang, Peiyong Li, Na Huang, Yilin Chen, Minting Liang, Weiming Lv, Zhongyu Yuan, Jie Li, Kun Wang","doi":"10.4048/jbc.2024.0223","DOIUrl":"10.4048/jbc.2024.0223","url":null,"abstract":"<p><strong>Purpose: </strong>Human epidermal growth factor receptor 2 (HER2)-low breast cancer has the potential to emerge as a distinct subtype. Several studies have compared the differences between HER2-low and HER2-0 breast cancers, but no consensus has been reached. Additionally, a biomarker to predict pathological complete response (pCR) rates in patients with HER2-low breast cancer remains to be identified.</p><p><strong>Methods: </strong>We collected data from 777 patients across three centers, stratifying them into HER2-low and HER2-0 groups. We compared differences in survival and pCR rates between the two groups and investigated potential biomarkers that could reliably predict pCR.</p><p><strong>Results: </strong>The study found that patients with HER2-0 breast cancer had higher pCR rates compared to patients with HER2-low tumors (289 patients [30.1%] vs. 475 patients [18.1%], <i>p</i> < 0.0001). Survival analysis showed no significant advantage for HER2-low tumors over HER2-0 breast cancers. Binary logistic analysis revealed that androgen receptor (AR) expression predicts poorer pCR rates in both the overall patient group and the HER2-0 breast cancer group (overall patients: odds ratio [OR], 0.479; 95% confidence interval [CI], 0.250-0.917; <i>p</i> = 0.026 and HER2-0 patients: OR, 0.267; 95% CI, 0.080-0.892; <i>p</i> = 0.032). In contrast, programmed death ligand 1 (PD-L1) expression was associated with more favorable pCR rates in the overall patient group (OR, 3.199; 95% CI, 1.020-10.037; <i>p</i> = 0.046).</p><p><strong>Conclusion: </strong>There is currently insufficient evidence to classify HER2-low breast cancer as a distinct subtype. Our study revealed that AR expression, along with negative PD-L1 expression, contributes to lower pCR rates.</p>","PeriodicalId":15206,"journal":{"name":"Journal of Breast Cancer","volume":"28 1","pages":"23-36"},"PeriodicalIF":2.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885850/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment Patterns and Outcomes of Young Female Early Breast Cancer in Taiwan.","authors":"Chi-Cheng Huang, Ling-Ming Tseng","doi":"10.4048/jbc.2024.0188","DOIUrl":"10.4048/jbc.2024.0188","url":null,"abstract":"<p><p>Young female early breast cancer (≤ 40 years) treatment presents unique challenges due to its aggressive features. Using data from the Taiwan Cancer Registry (2007-2017), this study investigated its clinical characteristics, treatment patterns, and prognostic factors. The proportion of young female breast cancer declined from 12% to 8% during the study period. Triple-negative (TN) breast cancer was more prevalent in younger patients, while hormone receptor-positive (HR+)/human epidermal growth factor receptor 2-negative subtypes increased with age. Stages II and III were observed more frequently in older patients, whereas extremely young patients (20-29 years) exhibited compromised overall and recurrence-free survival. Subtype analysis revealed worse outcomes for TN and hormone receptor-negative/human epidermal growth factor receptor 2-positive (HER2+) cases. Treatment patterns showed that targeted therapy was more commonly administered to younger patients with HER2+, while endocrine therapy was used less frequently for HR+ cases, reflecting tolerability and treatment compliance challenges. Future research should focus on optimizing therapeutic strategies and addressing long-term survivorship to enhance care for young women with breast cancer.</p>","PeriodicalId":15206,"journal":{"name":"Journal of Breast Cancer","volume":"28 1","pages":"37-45"},"PeriodicalIF":2.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinicopathological Features and Oncological Outcomes of Germline Partner and Localizer of Breast Cancer 2-Mutated Breast Cancer in Korea.","authors":"Chayanee Sae-Lim, Seongyeon Jo, Shinyoung Park, Taeyong Kweon, Jeea Lee, Yoonjung Lee, Sun Hwa Lee, Dongju Won, Eun Ji Nam, Jung Woo Han, Tae Il Kim, Ji Soo Park, Hyung Seok Park","doi":"10.4048/jbc.2024.0146","DOIUrl":"https://doi.org/10.4048/jbc.2024.0146","url":null,"abstract":"<p><strong>Purpose: </strong>The partner and localizer of breast cancer 2 (PALB2) mutation is a predisposition to breast cancer development. However, limited clinical data are available for the Korean population. Therefore, this study aimed to compare the characteristics and oncological outcomes of patients with PALB2-mutated and non-mutated PALB2 in Korea.</p><p><strong>Methods: </strong>A total of 1,463 breast cancer (BRCA) 1/2 mutation-negative breast cancer underwent comprehensive multigene sequencing between 2016 and 2019 at Severance Hospital, Seoul, Korea. Clinicopathological data and oncological results of PALB2 mutated patients were prospectively collected and compared with those of the non-mutated group.</p><p><strong>Results: </strong>PALB2 mutations were identified in 1.2% (17/1,463) of the patients. The median age at diagnosis was 46 (30-73) years, and the median tumor size was 1.8 (0.05-3.5) cm. All patients with PALB2 mutations had histologic grades II-III, and a triple-negative subtype was found in 23.5% (4/17); however, there were no significant differences in clinicopathological data between the groups. During the median follow-up time of 38.5 months, locoregional recurrence occurred in 4.2% (44/1,043), distant recurrence was reported in 3.0% (31/1,043), and contralateral breast cancer was diagnosed in 0.8% (9/1,043) of patients, with no significant difference observed between the groups. All-cause mortality was observed in 1.8% (19/1,028) of the non-mutated group and none in the PALB2 mutation group. However, survival analyses demonstrated no significant differences in all-cause mortality (<i>p</i> = 0.524) and recurrence-free survival (<i>p</i> = 0.319).</p><p><strong>Conclusion: </strong>Clinicopathological features and oncological outcomes of PALB2 mutated breast cancer were not significantly different from those of non-mutated breast cancer in the Korean population.</p>","PeriodicalId":15206,"journal":{"name":"Journal of Breast Cancer","volume":"27 6","pages":"372-382"},"PeriodicalIF":2.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11710906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}