Cancer Research and Treatment

Original Articles

Long-term Prognostic Value and Analytical Parameters of the Next-Generation Sequencing–Based Multigene Assay in Hormone Receptor–Positive, HER2-Negative Breast Cancer: Hyunji Kim, Jiwon Koh, Hyunwoo Lee, Gyungyub Gong, Sujin Oh, Jiyoung Lee, Ho Eun Chang, Yunhee Choi, Eunhye Kang, Jai Min Ryu, Dong Seung Shin, Sae Byul Lee, Hee Jin Lee, Hong-Kyu Kim, Hee-Chul Shin, Wonshik Han, Han-Byoel Lee, Kyoung Un Park; Received July 7, 2025 Accepted August 29, 2025 Published online September 1, 2025; DOI: https://doi.org/10.4143/crt.2025.701 [Epub ahead of print]

Abstract PDF Supplementary Material PubReader ePub: Purpose
In hormone receptor (HR)–positive, human epidermal growth factor receptor 2 (HER2)–negative early breast cancer, gene expression testing facilitates treatment decisions. A next-generation sequencing (NGS)–based assay was developed to address test decentralization and underrepresentation of younger/premenopausal patients. We aimed to validate the long-term prognostic value of the NGS-based assay and analyze its quality control (QC) parameters.
Materials and Methods
We analyzed samples from 265 patients with breast cancer with at least 10 years of follow-up. We evaluated the long-term prognostic ability of the NGS-based assay according to the risk groups for distant recurrence, as determined by the Decision Index, and the performance of the QC parameters used for the experimental process.
Results
Among 265 participants, 60.4% were ≤ 50 years old, and 39 (14.7%) experienced distant recurrence within 10 years. In the Decision Index–stratified low- and high-risk groups (n=186, 70.2% and n=79, 29.8%), 10-year distant metastasis–free survival rates were 96.1% (95% confidence interval [CI], 92.1 to 98.1) and 79.3% (95% CI, 68.4 to 86.8), respectively. In patients aged ≤ 50 years, the high-risk group had a hazard ratio of 5.89 (95% CI, 2.84 to 12.20). Analyses including 106 samples that failed the stringent QC criteria showed inferior prognostic value, wherein DV200 and cDNA concentrations were the most crucial parameters.
Conclusion
We validated the prognostic ability of an NGS-based assay to stratify HR-positive/HER2-negative breast cancers and predict the risk of distant recurrence, and confirmed the requirement for stringent QC criteria to ensure its prognostic ability.

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Impact of High Lymph Node Burden on Brain Metastases in Patients Who Achieved Pathological Complete Response after Neoadjuvant Chemotherapy in HER2-Positive Breast Cancer: Seung Ah Lee, Ki Jo Kim, Do Youn Woen, Su Min Lee, Kawon Oh, Cho Eun Lee, Woong Ki Park, Ji Won Yoo, Dong Seung Shin, Jai Min Ryu, Se Kyung Lee, Byung Joo Chae, Jonghan Yu, Seok Won Kim, Seok Jin Nam, Ji-Yeon Kim, Yeon Hee Park, Eun Young Ko, Eun Sook Ko, Jeong Eon Lee; Received February 24, 2025 Accepted July 6, 2025 Published online July 8, 2025; DOI: https://doi.org/10.4143/crt.2025.219 [Epub ahead of print]

Abstract PDF Supplementary Material PubReader ePub: Purpose
This study aims to investigate the clinical characteristics, outcomes, and predictors of brain metastases in human epidermal growth factor receptor 2 (HER2)–positive advanced breast cancer patients who achieved pathological complete response (pCR) following neoadjuvant chemotherapy (NAC). This research seeks to inform surveillance strategies and optimize management for high-risk subgroups.
Materials and Methods
A retrospective analysis of 1,757 patients (2008-2022) classified them into pCR (n=914) and non-pCR (n=843) groups post-NAC. Collected data included demographics, clinical features, and metastasis parameters. Survival outcomes and brain metastasis predictors were assessed using Kaplan-Meier curves, Cox models, and logistic regression.
Results
Among pCR patients, brain metastases accounted for 54.2% of distant metastases, significantly affecting overall survival (p < 0.001). Median distant metastasis-free survival was shorter for brain metastases (13.4 months) compared to extracranial metastases (31.1 months) in the pCR group (p=0.005). Positive supraclavicular node (SCN) fine needle aspiration (FNA) and clinical N3 (cN3) category were the strongest predictors of brain metastases (SCN FNA: odds ratio [OR], 12.9; p < 0.001; cN3: OR, 12.1; p < 0.001). Multivariable Cox regression analysis revealed that positive SCN FNA and cN3 category were strong predictors of reduced distant metastasis-free survival (SCN FNA: hazard ratio, 2.5; 95% confidence interval [CI], 1.3 to 3.6; p < 0.001; cN3: hazard ratio, 11.3; 95% CI, 4.9 to 33.0; p < 0.001).
Conclusion
This study highlights the challenges of brain metastases in HER2-positive pCR patients, emphasizing the need for tailored therapeutic strategies and enhanced surveillance. High lymph node burden prior to NAC is a significant factor in risk assessment. Therefore, it may be advisable to recommend post-surgery surveillance for high-risk patients.

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Breast cancer

Prognostic Performance of the Next-Generation Sequencing-Based Multigene Assay in Early Breast Cancer Patients Treated According to the 21-Gene Assay Results: Eunhye Kang, Jong-Ho Cheun, Jeeyeon Lee, Jiwon Koh, Hyunwoo Lee, Ji-Young Park, Hee Jin Lee, Byeongju Kang, Woong Ki Park, Jeongeun Son, Bumjoon Kim, Woosung Chung, Wonshik Han, Han-Byoel Lee, Sae Byul Lee, Jai Min Ryu; Cancer Res Treat. 2025;57(3):749-759. Published online December 23, 2024; DOI: https://doi.org/10.4143/crt.2024.1035

Abstract PDF Supplementary Material PubReader ePub

Purpose
Multigene assays guide treatment decisions in early-stage hormone receptor-positive breast cancer. OncoFREE, a next-generation sequencing assay using 179 genes, was developed for this purpose. This study aimed to evaluate the concordance between the Oncotype DX (ODX) recurrence score (RS) and the OncoFREE Decision Index (DI) and to compare their performance.
Materials and Methods
We retrospectively collected tumor blocks from patients who underwent ODX and treatment between 2012 and 2022 at four tertiary hospitals and performed OncoFREE on these samples. Distant metastasis-free survival (DMFS) was compared using RS and DI, with score cut-offs of 25 and 20, respectively.
Results
Among 838 patients, a strong correlation was observed between RS and DI (Pearson correlation coefficient 0.83). At a median follow-up of 54 months, patients with high DI had significantly worse DMFS compared to those with low-DI (log-rank p < 0.001; hazard ratio [HR], 5.73; 95% confidence interval [CI], 1.87 to 17.57; multivariable p=0.048; HR, 3.45; 95% CI, 1.01 to 11.76). In 513 patients aged ≤ 50 years, DMFS was significantly different as a function of DI (p=0.035; HR, 3.98; 95% CI, 1.00 to 15.89) but not RS (p=0.792). Among 376 patients aged ≤ 50 years who avoided chemotherapy based on low-RS, 64 with high DI had worse DMFS (p=0.015; HR, 5.91; 95% CI, 1.17 to 29.78).
Conclusion
OncoFREE showed strong concordance with ODX and effectively identified high-risk patients, particularly in younger individuals. It could be an affordable alternative to ODX for guiding treatment in hormone receptor-positive early breast cancer.

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Clinicopathologic characteristics and lymph node status in the NAUTILUS clinical trial:KBCSG-21
Jai Min Ryu, Han-Byoel Lee, Wonshik Han, Il-Yong Chung, Se Hyun Ahn, Seeyoun Lee, Seho Park, Joon Jeong, Woosung Lim, Jeong Eon Lee, Eunhye Kang, Ji Hyun Chang, Kyung Hwan Shin, Jung Min Chang, Woo Kyung Moon, Eun-Kyu Kim
European Journal of Surgical Oncology.2026; 52(4): 111458. CrossRef
Prospective Single-Arm Study of Endocrine Therapies With Ovarian Function Suppression in Premenopausal Node-Positive Early Breast Cancer Patients With Low Genomic Risk (INTERSTELLAR Trial, KBCSG-25)
Sung Gwe Ahn, Sung Hoon Sim, Taewoo Kang, Eun-Kyu Kim, Jeong Eon Lee, Hyeong-Gon Moon, Jee Hyun Ahn, Woosung Lim, Hyun Jo Youn, Hyun-Ah Kim, Chang Ik Yoon, Jisun Kim, Byeongju Kang, Min Ho Park, Su Hwan Kang, Lee Su Kim, Soong June Bae, Yoonwon Kook, Kwan
Journal of Breast Cancer.2026; 29(1): 81. CrossRef

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Endoxifen Concentration Is Associated with Recurrence-Free Survival in Hormone-Sensitive Breast Cancer Patients: Beomki Lee, Seok Jin Nam, Seok Won Kim, Jonghan Yu, Byung-Joo Chae, Se Kyung Lee, Jai Min Ryu, Jeong Eon Lee, Soo-Youn Lee; Cancer Res Treat. 2025;57(1):140-149. Published online June 18, 2024; DOI: https://doi.org/10.4143/crt.2023.1285

Abstract PDF PubReader ePub: Purpose
The metabolism of tamoxifen is influenced by various cytochrome p450 enzymes, including CYP2D6 and CYP2C19, leading to variations in the levels of endoxifen, even with the same tamoxifen dose. However, the clinical significance of endoxifen for the prognosis of breast cancer patients remains controversial. This study aimed to elucidate the relevance of endoxifen level to recurrence-free survival censored with tamoxifen discontinuation (RFSt), representing the RFS for tamoxifen itself, of breast cancer patients and determine a suitable cutoff for prognostication.
Materials and Methods
The study included 478 breast cancer patients. Tamoxifen and its metabolites, including endoxifen, were measured using liquid chromatography-tandem mass spectrometry. An optimal cutoff was determined with maximally selected rank statistics. Survival analysis and Cox regression were conducted based on this cutoff.
Results
An endoxifen level of 21.00 ng/mL was the optimal cutoff for prognostication. Survival analysis revealed a statistically significant difference in RFSt between the low endoxifen group (≤ 21.00 ng/mL) and the high endoxifen group (> 21.00 ng/mL) (log-rank test, p=0.032). The 10-year probability of RFSt was 83.2% (95% confidence interval [CI], 77.0 to 89.9) and 88.3% (95% CI, 83.3 to 93.5) in the low and high endoxifen groups, respectively. Multivariable Cox proportional hazards regression indicated endoxifen concentration as a significant factor associated with prognosis.
Conclusion
Endoxifen could serve as a marker for appropriate tamoxifen treatment with a cutoff of 21.00 ng/mL. Based on this cutoff, therapeutic drug monitoring would benefit patients displaying suboptimal endoxifen concentrations.

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Real World Evidence of Neoadjuvant Docetaxel/Carboplatin/Trastuzumab/Pertuzumab (TCHP) in Patients with HER2-Positive Early or Locally Advanced Breast Cancer: A Single-Institutional Clinical Experience: Ji-Yeon Kim, Seok Jin Nam, Jeong Eon Lee, Jonghan Yu, Byung Joo Chae, Se Kyung Lee, Jai Min Ryu, Jin Seok Ahn, Young-Hyuck Im, Seok Won Kim, Yeon Hee Park; Cancer Res Treat. 2022;54(4):1091-1098. Published online January 10, 2022; DOI: https://doi.org/10.4143/crt.2021.901

Abstract PDF Supplementary Material PubReader ePub

Purpose
Docetaxel/carboplatin/trastuzumab/pertuzumab (TCHP) regimen is frequently used to treat early and locally advanced human epidermal growth factor receptor 2 (HER2)–positive breast cancer (BC) in neoadjuvant setting. However, large-scaled real-world evidence did not exist.
Materials and Methods
We retrospectively reviewed medical records of patients with early or locally advanced HER2-positive BC who underwent neoadjuvant TCHP followed by curative surgery at Samsung Medical Center between January 2016 and August 2020.
Results
Of 447 patients, 316 (70.7%) received breast-conserving surgery and 131 (29.3%) received total mastectomy. In terms of neoadjuvant chemotherapy response, pathologic complete response (pCR) and residual cancer burden (RCB) score were analyzed. The rate of pCR was 64% a class of RCB 0 was observed in 65% of cases, RCB class I in 12%, RCB class II in 14%, and RCB class III in 2%. The 3-year event-free survival rate was 90.6%, BC with pCR occurred in 92.8%, and BC with non-pCR in 86.3% (p=0.016). In terms of distant metastasis, the 3-year distant recurrence-free survival rate was 93.5%; BC with pCR occurred in 95.9% and BC with non-pCR in 89.2% (p=0.013). Mucositis (85.2%), pain (83.2%), and diarrhea (70.5%) were the most common non-hematologic adverse events. In terms of hematologic adverse events, anemia (89.9%) was the most commonly observed adverse events followed by thrombocytopenia (29.8%).
Conclusion
Neoadjuvant TCHP therapy had a pCR rate of 64% and a 3-year event-free survival of 90% in real world experience. In terms of toxicity profile, anemia was frequently observed and adequate management including occasional transfusion was required.

Citations

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Efficacy, safety, and biomarkers of neoadjuvant trastuzumab and pertuzumab combined with chemotherapy in Chinese patients with HER2-positive breast cancer: a multicenter retrospective cohort study
Xiaowei Qi, Hong Hu, Pengfei Qiu, Wenlin Chen, Xiaochun Wang, Qiyun Shi, Yan Xu, Shu Liu, Yanman Fang, Taolang Li, Jia Ming, Sihai Zhou, Fan Chai, Yueyang Liang, Yuanming Fan, Peng Tang, Li Chen, Shushu Wang, Jun Jiang, Mengyuan Wang, Yi Zhang, Jianyun Ni
International Journal of Surgery.2026; 112(1): 1318. CrossRef
Systemic Treatment for Patients with Early-Stage Breast Cancer
Hee Kyung Ahn
The Korean Journal of Medicine.2026; 101(2): 70. CrossRef
Bridging Clinical Trials to Real-World Clinical Practice: TCHP Neoadjuvant Therapy Outcomes in HER2-Positive Breast Cancer
Baha Sharaf, Alaa Seif, Hira Bani Hani, Maha Alhasan, Rnad Khader, Maram Al-Yag'oub, Ameed Ghanem, Jinan Bani Ata, Batool Ajlouni, Qutaiba Jawarneh, Adel Jaffal, Faris Tamimi, Sharif Jehad, Haneen Al-Abdallat, Osama Mahafdah, Hikmat Abdel-razeq
Breast Cancer: Targets and Therapy.2026; Volume 18: 1. CrossRef
Decrease in Calcifications After Neoadjuvant Treatment Predicts Invasive Tumor Response but Not Complete DCIS Eradication: Systematic Review and Meta-Analysis
Noam Weiner, Yaron Niv, Eran Sharon
Clinical Breast Cancer.2025; 25(7): e990. CrossRef
Comparison of T-DM1 and trastuzumab-pertuzumab in HER2-positive breast cancer patients with residual disease after neoadjuvant therapy: a retrospective study
Junxiao Wang, Yushuai Yu, Qisheng Lin, Xin Wang
World Journal of Surgical Oncology.2025;[Epub] CrossRef
Pertuzumab/Docetaxel/Carboplatin/Trastuzumab Regimen in Human Epidermal Growth Factor Receptor 2–Positive Early, Locally Advanced, and Oligometastatic Breast Cancer: Real-World Outcomes From India
Ajay Gogia, Atul Batra, Ashutosh Mishra, Kamal Kataria, Surendra K. Saini, Sandeep Mathur, Chandra P. Prasad, Hari Krishna Raju Sagiraju
JCO Global Oncology.2025;[Epub] CrossRef
De-escalation of neoadjuvant taxane and carboplatin therapy in HER2-positive breast cancer with dual HER2 blockade: a multicenter real-world experience in China
Song Wu, Li Bian, Haibo Wang, Shaohua Zhang, Tao Wang, Zhigang Yu, Jianbin Li, Feng Li, Kun Wang, Zefei Jiang
World Journal of Surgical Oncology.2024;[Epub] CrossRef
Distinct ER and PR expression patterns significantly affect the clinical outcomes of early HER2-positive breast cancer: A real-world analysis of 871 patients treated with neoadjuvant therapy
Haizhu Chen, Xiujuan Gui, Ziwei Zhou, Fengxi Su, Chang Gong, Shunrong Li, Wei Wu, Nanyan Rao, Qiang Liu, Herui Yao
The Breast.2024; 75: 103733. CrossRef
Impact of adding pertuzumab to trastuzumab plus chemotherapy in neoadjuvant treatment of HER2 positive breast cancer patients: a multicenter real-life HER2PATH study
Ahmet Bilici, Omer Fatih Olmez, Muhammed Ali Kaplan, Berna Oksuzoglu, Ahmet Sezer, Nuri Karadurmus, Erdem Cubukcu, Mehmet Ali Nahit Sendur, Sercan Aksoy, Dilek Erdem, Gul Basaran, Burcu Cakar, Abdallah T. M. Shbair, Cagatay Arslan, Ahmet Taner Sumbul, Sem
Acta Oncologica.2023; 62(4): 381. CrossRef
Pathologic Complete Response Achieved in Early-Stage HER2-Positive Breast Cancer After Neoadjuvant Therapy With Trastuzumab and Chemotherapy vs. Trastuzumab, Chemotherapy, and Pertuzumab: A Systematic Review and Meta-Analysis of Clinical Trials
Faizan Fazal, Muhammad Nauman Bashir, Maham Leeza Adil, Usama Tanveer, Mansoor Ahmed, Taha Zahid Chaudhry, Ali Ahmad Ijaz, Muhammad Haider
Cureus.2023;[Epub] CrossRef
Trends of axillary surgery in breast cancer patients with axillary lymph node metastasis: a comprehensive single-center retrospective study
Yeon Jin Kim, Hye Jin Kim, Soo Yeon Chung, Se Kyung Lee, Byung Joo Chae, Jonghan Yu, Jeong Eon Lee, Seok Won Kim, Seok Jin Nam, Jai Min Ryu
Annals of Surgical Treatment and Research.2023; 105(1): 10. CrossRef
Anthracyclines versus No Anthracyclines in the Neoadjuvant Strategy for HER2+ Breast Cancer: Real-World Evidence
Inês Soares de Pinho, Paulo Luz, Lucy Alves, Raquel Lopes-Brás, Vanessa Patel, Miguel Esperança-Martins, Lisa Gonçalves, Ritas Freitas, Diana Simão, Maria Roldán Galnares, Isabel Fernandes, Silvia Artacho Criado, Salvador Gamez Casado, Jose Baena Cañada,
Clinical Drug Investigation.2023; 43(9): 691. CrossRef
Benefit of postoperative regional nodal irradiation in patients receiving preoperative systemic therapy with docetaxel/carboplatin/trastuzumab/pertuzumab for HER2-positive breast cancer
Nalee Kim, Ji-Yeon Kim, Won Park, Won Kyung Cho, Tae Gyu Kim, Young-Hyuck Im, Jin Seok Ahn, Jeong Eon Lee, Seok Jin Nam, Seok Won Kim, Jonghan Yu, Byung Joo Chae, Sei Kyung Lee, Jai-Min Ryu, Yeon Hee Park, Haeyoung Kim
The Breast.2023; 72: 103594. CrossRef
Response Rate and Safety of a Neoadjuvant Pertuzumab, Atezolizumab, Docetaxel, and Trastuzumab Regimen for Patients With ERBB2-Positive Stage II/III Breast Cancer
Hee Kyung Ahn, Sung Hoon Sim, Koung Jin Suh, Min Hwan Kim, Jae Ho Jeong, Ji-Yeon Kim, Dae-Won Lee, Jin-Hee Ahn, Heejung Chae, Kyung-Hun Lee, Jee Hyun Kim, Keun Seok Lee, Joo Hyuk Sohn, Yoon-La Choi, Seock-Ah Im, Kyung Hae Jung, Yeon Hee Park
JAMA Oncology.2022; 8(9): 1271. CrossRef

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Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients: Yoon Ju Bang, Won Kyung Kwon, Seok Jin Nam, Seok Won Kim, Byung-Joo Chae, Se Kyung Lee, Jai Min Ryu, Jong-Won Kim, Jonghan Yu, Jeong Eon Lee; Cancer Res Treat. 2022;54(3):827-833. Published online October 13, 2021; DOI: https://doi.org/10.4143/crt.2021.791

Abstract PDF Supplementary Material PubReader ePub

Purpose
Double heterozygosity (DH) for BRCA1 and BRCA2 variant is very rare with only a few cases reported, and most those in Caucasians. In this article, we present seven unrelated cases of DH for BRCA1/2 identified from a single institution in Korea, and describe the characteristics and phenotype of DH individuals compared to those with a single BRCA variant.
Materials and Methods
This study included 27,678 patients diagnosed with breast cancer and surgically treated at Samsung Medical Center (SMC) between January 2008 and June 2020. In total, 4,215 high-risk breast cancer patients were tested for the BRCA1/2 genes, and electronic medical records from 456 cases with pathogenic/likely pathogenic variants (PVs/LPVs) were reviewed.
Results
A younger mean age at diagnosis was associated with DH than a single variant of BRCA1/2. More triple-negative breast cancer (TNBC) and higher nuclear and histologic grade cancer occurred with DH than BRCA2 variant. All 7 cases of DH were unrelated, and their mutation combinations were different. There were no Ashkenazi founder variants detected.
Conclusion
We suggest that patients with DH for BRCA1/2 variants develop breast cancer at a younger age, but the histopathologic features are similar to those of BRCA1.

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Global prevalence and ethnic variation of pathogenic BRCA1/2 variants in breast cancer: a systematic review and meta-analysis
Najeeb Ullah Khan, Huijun Lei, Jinzhen Fu, Ruijiao Lei, Xukai Chen, Sana S. Alqarni, Tianhui Chen
Journal of Translational Medicine.2026;[Epub] CrossRef
Clinical variant interpretation comparing two saturation genome editing-based functional studies for BRCA2
Ju Hyeon Shin, Kyung Sun Park, Young-gon Kim, Mi-Ae Jang, Ja-Hyun Jang, Jong-Won Kim
Frontiers in Genetics.2026;[Epub] CrossRef
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice
Jeanette Yuen, Siqin Zhou, Rebecca Caeser, Mallika Venkatramani, Diana Nur Bte Ishak, Shao-Tzu Li, Zewen Zhang, Jianbang Chiang, Sock Hoai Chan, Joanne Ngeow
European Journal of Human Genetics.2025; 33(3): 289. CrossRef
Carcinoma erysipeloides secondary to male breast cancer in a patient with BRCA1 and BRCA2 mutations: a clinical presentation and management
Ayushya Ajmani, Daniel W Witheiler, Dario Kivelevitch
BMJ Case Reports.2025; 18(4): e264429. CrossRef
Double heterozygosity for BRCA1 and BRCA2 in breast cancer: considerations in surveillance and cancer risk management
Nonoko Wakaki, Tatsunori Shimoi, Shogo Nakamoto, Yuichiro Kikawa, Aki Ito, Takayuki Iwamoto
BMJ Case Reports.2025; 18(4): e263687. CrossRef
Two-hit events occurred independently in bilateral breast cancers in a germline double heterozygous carrier for BRCA1 and BRCA2
Ryoko Semba, Hidetaka Eguchi, Mizuki Takatsu, Toko Hashizume, Hideaki Moteki, Kazuma Maeno, Fumi Murakami, Junichiro Watanabe, Goro Kutomi, Masami Arai
Breast Cancer.2025; 32(6): 1472. CrossRef
Prevalence of MUTYH Monoallelic Variants in Patients With Hereditary Cancer Using Multigene Panel Testing
Gemma Caliendo, Chiara Della Pepa, Alessia Mignano, Luisa Albanese, Luana Passariello, Anna Cozzolino, Francesca Iengo, Anna Maria Molinari, Laura Pesce, Maria Teresa Vietri
Cancer Medicine.2025;[Epub] CrossRef
Clinicopathological features of Chinese ovarian cancer patients with double heterozygosity for cancer-predisposed genes
Yikun Jin, Wenyan Wang, Manqi Wu, Yiming Fan, Tongxia Wang, Cuiyu Huang, Tong Gao, Yan Liu, Yuan Li, Qiyu Liu, Hongyan Guo
BMC Cancer.2025;[Epub] CrossRef
Case Report: Clinical impact of BRCA1 and BRIP1 vs. BRCA1 and BRCA2 germline double heterozygosity in ovarian cancer: a comparative case study
Limei Zheng, Qianyuan Zhu, Fenglan Zhang, Hao Qiu, Lan Qin, Jianhua Yang, Ming Qi
Frontiers in Oncology.2025;[Epub] CrossRef
Double Pathogenic or Likely Pathogenic Variants in Cancer Predisposition Genes in Hungarian Cancer Patients
Tímea Pócza, János Papp, Anikó Bozsik, Vince Kornél Grolmusz, Petra Nagy, Attila Patócs, Henriett Butz
International Journal of Molecular Sciences.2025; 26(17): 8390. CrossRef
Cost-effectiveness of talazoparib for patients with germline BRCA1/2 mutated HER2-negative advanced breast cancer in China and the US
Junjie Pan, Ning Ren, Lanqi Ren, YiBei Yang, Qiaoping Xu
Scientific Reports.2024;[Epub] CrossRef
Characteristics of Chinese breast cancer patients with double heterozygosity for BRCA1 and BRCA2 germline pathogenic variants
Song Wen, Meng Zhang, Jiuan Chen, Li Hu, Jie Sun, Lu Yao, Ye Xu, Juan Zhang, Yuntao Xie
Breast Cancer Research and Treatment.2024; 208(1): 155. CrossRef
Discovery of BRCA1/BRCA2 founder variants by haplotype analysis
Won Kyung Kwon, Hyeok-Jae Jang, Jeong Eon Lee, Yeon Hee Park, Jai Min Ryu, Jonghan Yu, Ja-Hyun Jang, Jong-Won Kim
Cancer Genetics.2022; 266-267: 19. CrossRef

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Validation of Korean Version of the COmprehensive Score for financial Toxicity (COST) Among Breast Cancer Survivors: Sungkeun Shim, Danbee Kang, Nayeon Kim, Gayeon Han, Jihyun Lim, Hyunsoo Kim, Jeonghyun Park, Mankyung Lee, Jeong Eon Lee, Seok Won Kim, Jonghan Yu, Byung Joo Chae, Jai Min Ryu, Seok Jin Nam, Se Kyung Lee, Juhee Cho; Cancer Res Treat. 2022;54(3):834-841. Published online October 13, 2021; DOI: https://doi.org/10.4143/crt.2021.784

Abstract PDF Supplementary Material PubReader ePub

Purpose
Little is known about the impact of financial toxicity in disease-free breast cancer survivors. We aim to validate the COmprehensive Score for financial Toxicity in Korean (COST-K) and evaluate financial toxicity among disease-free breast cancer survivors.
Materials and Methods
We conducted linguistic validation following a standardized methodology recommended by Functional Assessment of Chronic Illness Therapy multilingual translation (FACITtrans). For psychometric validation, we conducted a cross-sectional survey with 4,297 disease-free breast cancer survivors at a tertiary hospital in Seoul, Korea between November 2018 and April 2019. Survivors were asked to complete the COST-K and European Organization for Research and Treatment of Cancer Quality of Life Core 30 (EORTC QLQ-C30) questionnaires. The test-retest reliability, internal consistency, and validity of the COST-K were assessed using standard scale construction techniques.
Results
The COST-K demonstrated good internal consistency, with a Cronbach’s α of 0.81. The test-retest analysis revealed an intraclass correlation coefficient of 0.78. The COST-K had moderate correlation (r=–0.60) with the financial difficulty item of the EORTC QLQ-C30 and week correlation with the items on acute and chronic symptom burdens (nausea/vomiting, –0.18; constipation, –0.14; diarrhea, –0.14), showing good convergent and divergent validity. The median COST-K was 27 (range, 0 to 44; mean±standard deivation [SD], 27.1±7.5) and about 30% and 5% of cancer survivors experienced mild and severe financial toxicity, respectively. Younger age, lower education, lower household income was associated with higher financial toxicity.
Conclusion
The COST-K is a valid and reliable instrument for measuring financial toxicity in disease-free breast cancer survivors. Considering its impact on the health-related quality of life, more studies need to be conducted to evaluate financial toxicity in cancer survivors and design interventions.

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Shumin Jia, Yongchun Cui, Denise Shuk Ting Cheung, Pui Hing Chau, Chia-Chin Lin
Seminars in Oncology Nursing.2026; 42(1): 152119. CrossRef
Perceived financial toxicity after active treatment and its association with clinical outcomes among breast cancer survivors: A prospective cohort study
Doyoun Woen, Danbee Kang, Juwon Park, Hyunsoo Kim, Su Min Lee, Seok Jin Nam, Seok Won Kim, Jeong Eon Lee, Jong Han Yu, Byung Joo Chae, Jai Min Ryu, Woong Ki Park, Juhee Cho, Se Kyung Lee
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Mingfang Jia, Liyi Zhong, Yingxia Luo, Oudong Xia
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G. Franklin, P. Larsen, C. Henry, C. Johnson
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Financial Toxicity Among Breast Cancer Patients
Yi Kuang, Xiaoyi Yuan, Zheng Zhu, Weijie Xing
Cancer Nursing.2025; 48(3): e166. CrossRef
Associations between financial toxicity, health-related quality of life, and well-being in Indonesian patients with breast cancer
Stevanus Pangestu, Fredrick Dermawan Purba, Hari Setyowibowo, Clara Mukuria, Fanni Rencz
Quality of Life Research.2025; 34(6): 1709. CrossRef
Trajectories and predictors of financial toxicity in breast cancer patients: A multicenter longitudinal study in China
Yi Kuang, Jiajia Qiu, Ye Liu, Sijin Guo, Ting Chen, Lichen Tang, Winnie K.W. So, Weijie Xing
The Breast.2025; 81: 104441. CrossRef
Cross‐Cultural Validation of the COmprehensive Score for Financial Toxicity (COST) Measure in an Australian Sample
Bora Kim, Claudia Rutherford, Lucy Lehane, Judith Fethney, Louise Acret, Tracy King, Patsy Kenny, Richard De Abreu Lourenco, Kate White
Cancer Medicine.2025;[Epub] CrossRef
Factors associated with unmet supportive care needs among adult cancer survivors in South Korea: a cross-sectional survey
Dal-Lae Jin, Young Ae Kim, Su Jung Lee, Hyun-Ju Seo, Seok-Jun Yoon
Journal of Cancer Survivorship.2025;[Epub] CrossRef
Unraveling the vicious cycle: longitudinal analysis between financial toxicity and symptom burden in women with breast cancer
Yi Kuang, Xiang Qi, Jiajia Qiu, Ye Liu, Sijin Guo, Ting Chen, Lichen Tang, Winnie K. W. So, Weijie Xing
Supportive Care in Cancer.2025;[Epub] CrossRef
Associations of Financial Toxicity with Employment Concerns and Cancer-Related Distress: A Cross-Sectional Survey among Korean Working-Age Cancer Survivors
Hyun-Ju Seo, Dal-Lae Jin, Young Ae Kim, Su Jung Lee, Seok-Jun Yoon
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Clinicopathological Features of Patients with the BRCA1 c.5339T>C (p.Leu1780Pro) Variant: Hyung Seok Park, Jai Min Ryu, Ji Soo Park, Seock-Ah Im, So-Youn Jung, Eun-Kyu Kim, Woo-Chan Park, Jun Won Min, Jeeyeon Lee, Ji Young You, Jeong Eon Lee, Sung-Won Kim; Cancer Res Treat. 2020;52(3):680-688. Published online January 28, 2020; DOI: https://doi.org/10.4143/crt.2019.351

Abstract PDF Supplementary Material PubReader ePub

Purpose
Recent studies revealed the BRCA1 c.5339T>C, p.Leu1780Pro variant (L1780P) is highly suggested as a likely pathogenic. The aim of this study was to evaluate clinicopathologic features of L1780P with breast cancer (BC) using multicenter data from Korea to reinforce the evidence as a pathogenic mutation and to compare L1780P and other BRCA1/2mutations using Korean Hereditary Breast Cancer (KOHBRA) study data.
Materials and Methods
The data of 54 BC patients with L1780P variant from 10 institutions were collected and the clinicopathologic characteristics of the patients were reviewed. The hereditary breast and/or ovarian cancer–related characteristics of the L1780P variant were compared to those of BC patients in the KOHBRA study.
Results
The median age of all patients was 38 years, and 75.9% of cases showed triple-negative breast cancer. Comparison of cases with L1780P to carriers from the KOHBRA study revealed that the L1780P patients group was more likely to have family history (FHx) of ovarian cancer (OC) (24.1% vs. 19.6% vs. 11.2%, p < 0.001 and p=0.001) and a personal history of OC (16.7% vs. 2.9% vs. 1.3%, p=0.003 and p=0.001) without significant difference in FHx of BC and bilateral BC. The cumulative risk of contralateral BC at 10 years after diagnosis was 31.9%, while the cumulative risk of OC at 50 years of age was 20.0%. Patients with L1780P showed similar features with BRCA1 carriers and showed higher penetrance of OC than patients with other BRCA1 mutations.
Conclusion
L1780P should be considered as a pathogenic mutation. Risk-reducing salpingo-oophorectomy is highly recommended for women with L1780P.

Citations

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