Purpose: Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world. Materials and Methods: We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis. Results: NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs. Conclusion Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.

Purpose: Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world. Materials and Methods: We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis. Results: NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs. Conclusion Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.

Purpose: Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world. Materials and Methods: We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis. Results: NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs. Conclusion Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.

Background: The COVID-19 pandemic and the implementation of social distancing have been reported to negatively impact cardiovascular-related health behaviors. However, the effects of lifting social distancing restrictions on these health behaviors remain unclear. This study investigated public awareness and behavioral changes related to cardiovascular disease prevention after the end of social distancing. Methods: Between June 5 and June 12, 2023, 2,000 adults participated in the 2023 Cardiovascular Disease Prevention Awareness Survey in Korea. The survey comprehensively addressed sociodemographic factors, cardiometabolic disease history, cardiovascular disease concern, prevention awareness, and behavioral changes after the end of social distancing. Logistic regression analyses were performed to assess the associations between behavioral changes and sociodemographic factors. Results: Cardiovascular disease ranked as the second most feared disease (most feared, 18.0%; second most feared, 26.3%) after cancer (most feared, 42.3%; second most feared, 21.7%). Among nine cardiovascular disease prevention recommendations, stress management, being physically active, and maintaining a healthy diet were perceived as the most challenging recommendations. After the end of social distancing, there were more positive changes than negative changes in smoking, alcohol consumption, dietary habits, physical activity, and healthcare service use, whereas stress management more frequently changed negatively (40.0%) than it changed positively (19.5%). Conclusions Positive changes in cardiovascular-related health behaviors, except for stress management, were observed after the end of social distancing. Further research is necessary to fully comprehend the impact of discontinuing social distancing practices.

Purpose: Brain metastasis rarely occurs in soft tissue sarcoma (STS). Here, we present five cases of STS with brain metastases with genetic profiles. Materials and Methods: We included five patients from Seoul National University Hospital who were diagnosed with STS with metastasis to the brain. Tissue from the brain metastasis along with that from the primary site or other metastases were used for DNA and RNA sequencing to identify genetic profiles. Gene expression profiles were compared with sarcoma samples from The Cancer Genome Atlas. Results: The overall survival after diagnosis of brain metastasis ranged from 2.2 to 34.3 months. Comparison of mutational profiles between brain metastases and matched primary or other metastatic samples showed similar profiles. In two patients, copy number variation profiles between brain metastasis and other tumors showed several differences including MYCL, JUN, MYC, and DDR2 amplification. Gene ontology analysis showed that the group of genes significantly highly expressed in the brain metastasis samples was enriched in the G-protein coupled receptor activity, structural constituent of chromatin, protein heterodimerization activity, and binding of DNA, RNA, and protein. Gene set enrichment analysis showed enrichment in the pathway of neuroactive ligand-receptor interaction and systemic lupus erythematosus. Conclusion The five patients had variable ranges of clinical courses and outcomes. Genomic and transcriptomic analysis of STS with brain metastasis implicates possible involvement of complex expression modification and epigenetic changes rather than the addition of single driver gene alteration.

Background: The importance of digital technology is increasing among older adults. In this study, the digital health technology utilization status, purpose, and satisfaction of older adults were investigated according to frailty. Methods: A face-to-face survey was conducted among adults aged 65 years or older. Frailty was defined using the Korean version of the fatigue, resistance, ambulation, illnesses, and loss of weight scale. Results: A total of 505 participants completed the survey, with 153 (30.3%) identified as pre-frail or frail and 352 (69.7%) as healthy. All respondents used smartphones; 440 (87.1%) were application users, and 290 (57.4%) were healthcare application users. Wearable devices were used by only 36 patients (7.1%). Pre-frail or frail respondents used social media more frequently than healthy respondents (19.4% vs. 7.4%, P < 0.001). Among the respondents, 319 (63.2%) were not able to install or delete the application themselves, and 277 (54.9%) stated that the application was recommended by their children (or partner). Pre-frail and frail respondents used more healthcare applications to obtain health information (P = 0.002) and were less satisfied with wearable devices (P = 0.02). Conclusion The usage rate of digital devices, including mobile phones among older adults in Korea is high, whereas that of wearable devices is low. There was a notable difference in the services used by pre-frail and frail respondents compared to healthy respondents. Therefore, when developing digital devices for pre-frail and frail older adults, it is crucial to incorporate customized services that meet their unique needs, particularly those services that they frequently use.

Background: Balancing parenting and work life poses challenges for women with children, potentially making them vulnerable to depression owing to their dual responsibilities.Investigating working mothers’ mental health status is important on both the individual and societal levels. This study aimed to explore the relationship between economic activity participation and depressive symptoms among working mothers. Methods: This study was a cross-sectional study and used data from the Korea National Health and Nutrition Examination Survey collected in 2014, 2016, 2018, and 2020. The participants in the study were women aged 19 to 50 who were residing with their children.In the total, 3,151 participants were used in the analysis. The independent variable was economic activity, categorized into two groups: 1) economically active and 2) economically inactive. The dependent variable was the depressive symptoms, categorized as present for a Patient Health Questionnaire-9 score of ≥ 10 and absent for a score < 10. Multiple logistic regression analysis was performed to assess the association between economic activity and depressive symptoms, and sensitivity analyses were performed based on the severity of depressive symptoms. Results: Among women with children, economically active women had reduced odds ratio of depressive symptoms compared with economically inactive women (odds ratio [OR], 0.54;95% confidence interval [CI], 0.36–0.80). In additional analysis, women working as wage earners had the lowest odds of depressive symptoms (OR, 0.43; 95% CI, 0.28–0.66). Women working an average of 40 hours or less per week were least likely to have depressive symptoms (OR, 0.42; 95% CI, 0.25–0.69). Conclusion Economic activity is significantly associated with depressive symptoms among women with children. Environmental support and policy approaches are needed to ensure that women remain economically active after childbirth.

Purpose: Gastric cancer (GC) is among the most prevalent and fatal cancers worldwide.National cancer screening programs in countries with high incidences of this disease provide medical aid beneficiaries with free-of-charge screening involving upper endoscopy to detect early-stage GC. However, the coronavirus disease 2019 (COVID-19) pandemic has caused major disruptions to routine healthcare access. Thus, this study aimed to assess the impact of COVID-19 on the diagnosis, overall incidence, and stage distribution of GC. Materials and Methods: We identified patients in our hospital cancer registry who were diagnosed with GC between January 2018 and December 2021 and compared the cancer stage at diagnosis before and during the COVID-19 pandemic. Subgroup analyses were conducted according to age and sex. The years 2018 and 2019 were defined as the “before COVID” period, and the years 2020 and 2021 as the “during COVID” period. Results: Overall, 10,875 patients were evaluated; 6,535 and 4,340 patients were diagnosed before and during the COVID-19 period, respectively. The number of diagnoses was lower during the COVID-19 pandemic (189 patients/month vs. 264 patients/month) than before it.Notably, the proportion of patients with stages 3 or 4 GC in 2021 was higher among men and patients aged ≥40 years. Conclusions During the COVID-19 pandemic, the overall number of GC diagnoses decreased significantly in a single institute. Moreover, GCs were in more advanced stages at the time of diagnosis. Further studies are required to elucidate the relationship between the COVID-19 pandemic and the delay in the detection of GC worldwide.

Purpose: This study was conducted to build a direction for government policies regarding strategies for the commercialization of digital therapeutics in Korea, as well as its globalization. Materials and Methods: The study included 37 participants from the Korea Digital Health Industry Association (KODHIA). The data was based on a survey conducted in 2020 targeting employees of companies engaged in the digital health industry in Korea.Participants were asked about their involvement in product development of digital therapeutics and their opinion about the growing motivator for digital therapeutics in Korea and the global market. Results: According to our data, among subjects not involved in making digital therapeutics products, the main reason for not being involved was the lack of experts (73.9%) and difficulty in licensing (73.9%). Responses concerning the priority area in need of national support were R&D funding (43.2%), and the next was licensing guidance and simplifying regulations (24.3%). Possible difficulties of overseas market expansion were the unfamiliarity in digital therapeutics technology verification and licensing structures of foreign countries (73%), and concerns regarding the level of recognition of clinical trials and technology in Korea from overseas (70.3%). Overall, respondents were hesitant in starting a related business due to the lack of government support and the complexity of the regulation process. Moreover, concerns about global market entry were similar. Being unfamiliar with the novel process and worrying about the achievement despite existing challenges were the biggest drawback. Conclusion For the digital therapeutics industry to evolve domestically and internationally, government support and guidance are essential.

Background: This study reports trends in pediatric out-of-hospital cardiac arrest (OHCA) and factors affecting clinical outcomes by age group. Methods: We identified 4,561 OHCA patients younger than 18 years between January 2009 and December 2018 in the Korean OHCA Registry. The patients were divided into four groups: group 1 (1 year or younger), group 2 (1 to 5 years), group 3 (6 to 12 years), and group 4 (13 to 17 years). The primary outcome was survival to hospital discharge, and the secondary outcomes were return of spontaneous circulation (ROSC) at the emergency department (ED) and good neurological status at discharge. Multivariate logistic analyses were performed. Results: The incidence rate of pediatric OHCA in group 1 increased from 45.57 to 60.89 per 100,000 person-years, while that of the overall population decreased over the 10 years. The rates of ROSC at the ED, survival to hospital discharge, and good neurologic outcome were highest in group 4 (37.9%, 9.7%, 4.9%, respectively) and lowest in group 1 (28.3%, 7.1%, 3.2%). The positive factors for survival to discharge were event location of a public/commercial building or place of recreation, type of first responder, prehospital delivery of automated external defibrillator shock, initial shockable rhythm at the ED. The factors affecting survival outcomes differed by age group. Conclusion This study reports comprehensive trends in pediatric OHCA in the Republic of Korea. Our findings imply that preventive methods for the targeted population should be customized by age group.