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.

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.

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.

Background: In this study, we aimed to investigate the interaction effects of individual socioeconomic status and regional deprivation on the onset of diabetes complications and diabetes-related hospitalization among type 2 diabetes patients. Methods: Korean National Health Insurance Service National Sample Cohort data from 2002 to 2013 were used. A total of 50,954 patients newly diagnosed with type 2 diabetes from 2004 to 2012 and aged 30 years or above were included. We classified patients into six groups according to individual income level and neighborhood deprivation: ‘high in advantaged,’ ‘high in disadvantaged,’ ‘middle in advantaged,’ ‘middle in disadvantaged,’ ‘low in advantaged,’ and ‘low in disadvantaged.’ We calculated hazard ratios (HR) of onset of diabetes complication and diabetes-related hospitalization using the Cox proportional hazard model, with the reference group as diabetes patients with high income in advantaged regions. Results: In terms of the interaction effects of individual income level and regional socioeconomic level, even with the same low individual income level, the group with a high regional socioeconomic level (low in advantaged) showed low HRs for the onset of diabetes complication (HR, 1.04; 95% confidence interval [CI], 1.00–1.08) compared to the ‘low in disadvantaged’ group (HR, 1.10;95% CI, 1.05–1.16). In addition, the ‘high in advantaged’ group showed slightly higher HRs for the onset of diabetes complication (HR, 1.06; 95% CI, 1.00–1.11) compared to the ‘low in advantaged’ and it appeared to be associated with slight mitigation of the risk of diabetes complication. For the low-income level, the patients in disadvantaged regions showed the highest HRs for diabetes-related hospitalization (HR, 1.29; 95% CI, 1.19–1.41) compared to the other groups. Conclusion Although we need to perform further investigations to reveal the mechanisms that led to our results, interaction effects individual socioeconomic status and regional deprivation might be associated with on onset of diabetes complications and diabetes-related hospitalization among type 2 diabetes patients.

Background: In this study, we aimed to investigate the interaction effects of individual socioeconomic status and regional deprivation on the onset of diabetes complications and diabetes-related hospitalization among type 2 diabetes patients. Methods: Korean National Health Insurance Service National Sample Cohort data from 2002 to 2013 were used. A total of 50,954 patients newly diagnosed with type 2 diabetes from 2004 to 2012 and aged 30 years or above were included. We classified patients into six groups according to individual income level and neighborhood deprivation: ‘high in advantaged,’ ‘high in disadvantaged,’ ‘middle in advantaged,’ ‘middle in disadvantaged,’ ‘low in advantaged,’ and ‘low in disadvantaged.’ We calculated hazard ratios (HR) of onset of diabetes complication and diabetes-related hospitalization using the Cox proportional hazard model, with the reference group as diabetes patients with high income in advantaged regions. Results: In terms of the interaction effects of individual income level and regional socioeconomic level, even with the same low individual income level, the group with a high regional socioeconomic level (low in advantaged) showed low HRs for the onset of diabetes complication (HR, 1.04; 95% confidence interval [CI], 1.00–1.08) compared to the ‘low in disadvantaged’ group (HR, 1.10;95% CI, 1.05–1.16). In addition, the ‘high in advantaged’ group showed slightly higher HRs for the onset of diabetes complication (HR, 1.06; 95% CI, 1.00–1.11) compared to the ‘low in advantaged’ and it appeared to be associated with slight mitigation of the risk of diabetes complication. For the low-income level, the patients in disadvantaged regions showed the highest HRs for diabetes-related hospitalization (HR, 1.29; 95% CI, 1.19–1.41) compared to the other groups. Conclusion Although we need to perform further investigations to reveal the mechanisms that led to our results, interaction effects individual socioeconomic status and regional deprivation might be associated with on onset of diabetes complications and diabetes-related hospitalization among type 2 diabetes patients.

BACKGROUND: Since the night time work was introduced as a ‘harmful factor’ for the worker's special health examination (WSHE) in 2014, the validation of the questionnaire used for screening gastrointestinal (GI) disorder has not been conducted. The purpose of this study is to verify the validity of the questionnaire using the data of specific health screening cluster. METHODS: We used WSHE screening data for 3 years, from 2014 to 2016, in health screening cluster. The subjects who had received upper GI endoscopy in opportunistic screening and WSHE simultaneously regardless of the results of the questionnaire were selected. We tested the validity of the questionnaire using upper GI endoscopy as a gold standard. RESULTS: This study was conducted on 5,057 examinees in 2014, 8,352 examinees in 2015, and 10,587 examinees in 2016. The validity of the questionnaire for each year was as follows: sensitivity 12.3% (95% confidence interval [CI], 11.1–13.4), specificity 88.6% (95% CI, 87.2–90.1), accuracy 41.1% (95% CI, 39.8–42.5) in 2014, sensitivity 5.9% (95% CI, 5.2–6.5), specificity 93.6% (95% CI, 92.7–94.4), accuracy 38.6% (95% CI, 37.6–39.6) in 2015, sensitivity 6.0% (95% CI, 5.4–6.5), a specificity of 9.42% (95% CI, 93.4–95.0), accuracy of 34.2% (95% CI, 33.3–35.1) in 2016. In generally, questionnaire showed sensitivity of 10%, specificity of 90%, and accuracy of 40%. CONCLUSIONS: Despite the purpose of WSHEs aiming to identify target disease early, the sensitivity of the questionnaire for GI disease was too low as 10%. The reasons for this are the problem of the question itself, and the problem of ambiguous target disease. In the future, the questionnaire should be improved to meet the purpose of the WSHE, and further correction of the target disease should be made.
Endoscopy ; Mass Screening ; Sensitivity and Specificity

Recently, genetic variants in the WNT signaling pathway have been reported to affect the survival outcome of Caucasian patients with early stage non-small cell lung cancer (NSCLC). We therefore attempted to determine whether these same WNT signaling pathway gene variants had similar impacts on the survival outcome of NSCLC patients in a Korean population. A total of 761 patients with stages I-IIIA NSCLC were enrolled in this study. Eight variants of WNT pathway genes were genotyped and their association with overall survival and disease-free survival were analyzed. None of the eight variants were significantly associated with overall survival or disease-free survival. There were no differences in survival outcome after stratifying the subjects according to age, gender, smoking status, and histological type. These results suggest that genetic variants in the WNT signaling pathway may not affect the survival outcome of NSCLC in a Korean population.
Aged ; Asian Continental Ancestry Group/*genetics ; Carcinoma, Non-Small-Cell Lung/*genetics/mortality/pathology ; Demography ; Disease-Free Survival ; Female ; Genotype ; Humans ; Kaplan-Meier Estimate ; Lung Neoplasms/*genetics/mortality/pathology ; Male ; Middle Aged ; *Polymorphism, Single Nucleotide ; Republic of Korea ; Smoking ; Wnt Signaling Pathway/*genetics