1.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
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.
2.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
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.
3.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
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.
4.Clinical Practice Guideline for Percutaneous Endoscopic Gastrostomy
Chung Hyun TAE ; Ju Yup LEE ; Moon Kyung JOO ; Chan Hyuk PARK ; Eun Jeong GONG ; Cheol Min SHIN ; Hyun LIM ; Hyuk Soon CHOI ; Miyoung CHOI ; Sang Hoon KIM ; Chul-Hyun LIM ; Jeong-Sik BYEON ; Ki-Nam SHIM ; Geun Am SONG ; Moon Sung LEE ; Jong-Jae PARK ; Oh Young LEE ;
Gut and Liver 2024;18(1):10-26
With an aging population, the number of patients with difficulty swallowing due to medical conditions is gradually increasing. In such cases, enteral nutrition is administered through a temporary nasogastric tube. Long-term use of a nasogastric tube leads to various complications and a decreased quality of life. Percutaneous endoscopic gastrostomy (PEG) is the percutaneous placement of a tube into the stomach, aided endoscopically, which may be an alternative to a nasogastric tube when enteral nutritional is required for 4 weeks or more. This paper is the first Korean clinical guideline for PEG. It was developed jointly by the Korean College of Helicobacter and Upper Gastrointestinal Research and led by the Korean Society of Gastrointestinal Endoscopy. These guidelines aimed to provide physicians, including endoscopists, with the indications, use of prophylactic antibiotics, timing of enteric nutrition, tube placement methods, complications, replacement, and tubes removal for PEG based on the currently available clinical evidence.
5.Validation of self-reported morbidities in the Korean Atomic Bomb Survivor Cohort
Ansun JEONG ; Somin JEON ; Seong-geun MOON ; Mi Kyung KIM ; Inah KIM ; Yu-Mi KIM ; Boyoung PARK
Epidemiology and Health 2024;46(1):e2024058-
OBJECTIVES:
This study aimed to evaluate the agreement of disease status collected through a survey of the Korean Atomic Bomb Survivor Cohort (K-ABC), compared with medical claim records from the Korean National Health Insurance Service (NHIS) database and the Korean Central Cancer Registry (KCCR).
METHODS:
Data on the lifetime physician-diagnosed morbidities of 1,215 K-ABC participants were collected through an interviewer-administered questionnaire between 2020 and 2022. Survey data were linked to the NHIS and KCCR databases. Eleven diseases were included for validation. We evaluated the following indicators: sensitivity, specificity, positive predictive value, negative predictive value, accuracy, the area under the curve, and the kappa coefficient.
RESULTS:
The mean±standard deviation age was 62.1±18.7 years, and 42.6% of the participants were aged ≥70 years. Hypertension and cataracts showed the highest prevalence rates (33.8 and 28.8%, respectively). Hypertension, diabetes, and cancer demonstrated high sensitivity (>0.8) and specificity (>0.9), whereas diabetes, cancer, myocardial infarction, angina pectoris, and asthma exhibited high accuracy (>0.9). In contrast, arthritis, allergic rhinitis, and asthma showed low sensitivity (<0.4) and kappa values (<0.3). In the participants aged ≥70 years, the kappa value was ≥0.4 for all diseases except arthritis, allergic rhinitis, and asthma.
CONCLUSIONS
The results from this initial analysis showed relatively high agreement between the survey and NHIS/KCCR databases, especially for hypertension, diabetes, and cancer. Our findings suggest that the information on morbidities collected through the questionnaires in this cohort was valid for both younger and older individuals.
6.Validation of self-reported morbidities in the Korean Atomic Bomb Survivor Cohort
Ansun JEONG ; Somin JEON ; Seong-geun MOON ; Mi Kyung KIM ; Inah KIM ; Yu-Mi KIM ; Boyoung PARK
Epidemiology and Health 2024;46(1):e2024058-
OBJECTIVES:
This study aimed to evaluate the agreement of disease status collected through a survey of the Korean Atomic Bomb Survivor Cohort (K-ABC), compared with medical claim records from the Korean National Health Insurance Service (NHIS) database and the Korean Central Cancer Registry (KCCR).
METHODS:
Data on the lifetime physician-diagnosed morbidities of 1,215 K-ABC participants were collected through an interviewer-administered questionnaire between 2020 and 2022. Survey data were linked to the NHIS and KCCR databases. Eleven diseases were included for validation. We evaluated the following indicators: sensitivity, specificity, positive predictive value, negative predictive value, accuracy, the area under the curve, and the kappa coefficient.
RESULTS:
The mean±standard deviation age was 62.1±18.7 years, and 42.6% of the participants were aged ≥70 years. Hypertension and cataracts showed the highest prevalence rates (33.8 and 28.8%, respectively). Hypertension, diabetes, and cancer demonstrated high sensitivity (>0.8) and specificity (>0.9), whereas diabetes, cancer, myocardial infarction, angina pectoris, and asthma exhibited high accuracy (>0.9). In contrast, arthritis, allergic rhinitis, and asthma showed low sensitivity (<0.4) and kappa values (<0.3). In the participants aged ≥70 years, the kappa value was ≥0.4 for all diseases except arthritis, allergic rhinitis, and asthma.
CONCLUSIONS
The results from this initial analysis showed relatively high agreement between the survey and NHIS/KCCR databases, especially for hypertension, diabetes, and cancer. Our findings suggest that the information on morbidities collected through the questionnaires in this cohort was valid for both younger and older individuals.
7.Validation of self-reported morbidities in the Korean Atomic Bomb Survivor Cohort
Ansun JEONG ; Somin JEON ; Seong-geun MOON ; Mi Kyung KIM ; Inah KIM ; Yu-Mi KIM ; Boyoung PARK
Epidemiology and Health 2024;46(1):e2024058-
OBJECTIVES:
This study aimed to evaluate the agreement of disease status collected through a survey of the Korean Atomic Bomb Survivor Cohort (K-ABC), compared with medical claim records from the Korean National Health Insurance Service (NHIS) database and the Korean Central Cancer Registry (KCCR).
METHODS:
Data on the lifetime physician-diagnosed morbidities of 1,215 K-ABC participants were collected through an interviewer-administered questionnaire between 2020 and 2022. Survey data were linked to the NHIS and KCCR databases. Eleven diseases were included for validation. We evaluated the following indicators: sensitivity, specificity, positive predictive value, negative predictive value, accuracy, the area under the curve, and the kappa coefficient.
RESULTS:
The mean±standard deviation age was 62.1±18.7 years, and 42.6% of the participants were aged ≥70 years. Hypertension and cataracts showed the highest prevalence rates (33.8 and 28.8%, respectively). Hypertension, diabetes, and cancer demonstrated high sensitivity (>0.8) and specificity (>0.9), whereas diabetes, cancer, myocardial infarction, angina pectoris, and asthma exhibited high accuracy (>0.9). In contrast, arthritis, allergic rhinitis, and asthma showed low sensitivity (<0.4) and kappa values (<0.3). In the participants aged ≥70 years, the kappa value was ≥0.4 for all diseases except arthritis, allergic rhinitis, and asthma.
CONCLUSIONS
The results from this initial analysis showed relatively high agreement between the survey and NHIS/KCCR databases, especially for hypertension, diabetes, and cancer. Our findings suggest that the information on morbidities collected through the questionnaires in this cohort was valid for both younger and older individuals.
8.Validation of self-reported morbidities in the Korean Atomic Bomb Survivor Cohort
Ansun JEONG ; Somin JEON ; Seong-geun MOON ; Mi Kyung KIM ; Inah KIM ; Yu-Mi KIM ; Boyoung PARK
Epidemiology and Health 2024;46(1):e2024058-
OBJECTIVES:
This study aimed to evaluate the agreement of disease status collected through a survey of the Korean Atomic Bomb Survivor Cohort (K-ABC), compared with medical claim records from the Korean National Health Insurance Service (NHIS) database and the Korean Central Cancer Registry (KCCR).
METHODS:
Data on the lifetime physician-diagnosed morbidities of 1,215 K-ABC participants were collected through an interviewer-administered questionnaire between 2020 and 2022. Survey data were linked to the NHIS and KCCR databases. Eleven diseases were included for validation. We evaluated the following indicators: sensitivity, specificity, positive predictive value, negative predictive value, accuracy, the area under the curve, and the kappa coefficient.
RESULTS:
The mean±standard deviation age was 62.1±18.7 years, and 42.6% of the participants were aged ≥70 years. Hypertension and cataracts showed the highest prevalence rates (33.8 and 28.8%, respectively). Hypertension, diabetes, and cancer demonstrated high sensitivity (>0.8) and specificity (>0.9), whereas diabetes, cancer, myocardial infarction, angina pectoris, and asthma exhibited high accuracy (>0.9). In contrast, arthritis, allergic rhinitis, and asthma showed low sensitivity (<0.4) and kappa values (<0.3). In the participants aged ≥70 years, the kappa value was ≥0.4 for all diseases except arthritis, allergic rhinitis, and asthma.
CONCLUSIONS
The results from this initial analysis showed relatively high agreement between the survey and NHIS/KCCR databases, especially for hypertension, diabetes, and cancer. Our findings suggest that the information on morbidities collected through the questionnaires in this cohort was valid for both younger and older individuals.
9.Parental concerns about COVID-19 vaccine safety and hesitancy in Korea: implications for vaccine communication
Hye-Kyung CHO ; Hyunju LEE ; Young June CHOE ; Shinkyeong KIM ; Sujin SEO ; Jiwon MOON ; Eun Hwa CHOI ; Geun-Yong KWON ; Jee Yeon SHIN ; Sang-Yoon CHOI ; Mi Jin JEONG ; Myoungsoon YOU
Epidemiology and Health 2023;45(1):e2023004-
OBJECTIVES:
Vaccination is one of the most important strategies to contain the spread of coronavirus disease 2019 (COVID-19). Vaccination in children is dependent on their parents, making it important to understand parents’ awareness and attitudes toward vaccines in order to devise strategies to raise vaccination rates in children.
METHODS:
A web-based nationwide survey was conducted among Korean parents of 7-year-old to 18-year-old children in August 2021 to estimate parents’ intention to vaccinate their children against COVID-19 and identify key factors affecting parental acceptance and hesitancy through regression analysis.
RESULTS:
Approximately 56.4% (575/1,019) were willing to vaccinate their children against COVID-19. Contributing factors to COVID-19 vaccine hesitancy were being a mother (adjusted odds ratio [aOR], 0.36; 95% confidence interval [CI], 0.25 to 0.52), a lower education level (aOR, 0.83; 95% CI, 0.70 to 0.97), hesitancy to other childhood vaccines (aOR, 0.78; 95% CI, 0.64 to 0.96), and refusal to vaccinate themselves (aOR, 0.08; 95% CI, 0.02 to 0.20). Having older children (aOR, 1.20; 95% CI, 1.13 to 1.28), trusting the child’s doctor (aOR, 1.19; 95% CI, 1.07 to 1.32), positive perceptions of the COVID-19 vaccine’s effectiveness (aOR, 2.60; 95% CI, 1.90 to 3.57) and perceiving the COVID-19 vaccine as low-risk (aOR, 1.68; 95% CI, 1.27 to 2.24) were associated with COVID-19 vaccine acceptance. Concerns about adverse reactions were the most common cause of hesitancy.
CONCLUSIONS
Providing parents with accurate and reliable information on vaccine effectiveness and safety is important to increase COVID-19 vaccine uptake in children. Differential or targeted approaches to parents according to gender, age, and their children’s age are necessary for effective communication about vaccination in children.
10.Clinical practice guidelines for percutaneous endoscopic gastrostomy
Chung Hyun TAE ; Ju Yup LEE ; Moon Kyung JOO ; Chan Hyuk PARK ; Eun Jeong GONG ; Cheol Min SHIN ; Hyun LIM ; Hyuk Soon CHOI ; Miyoung CHOI ; Sang Hoon KIM ; Chul-Hyun LIM ; Jeong-Sik BYEON ; Ki-Nam SHIM ; Geun Am SONG ; Moon Sung LEE ; Jong-Jae PARK ; Oh Young LEE ;
Clinical Endoscopy 2023;56(4):391-408
With an aging population, the number of patients with difficulty in swallowing due to medical conditions is gradually increasing. In such cases, enteral nutrition is administered through a temporary nasogastric tube. However, the long-term use of a nasogastric tube leads to various complications and a decreased quality of life. Percutaneous endoscopic gastrostomy (PEG) is the percutaneous placement of a tube into the stomach that is aided endoscopically and may be an alternative to a nasogastric tube when enteral nutritional is required for four weeks or more. This paper is the first Korean clinical guideline for PEG developed jointly by the Korean College of Helicobacter and Upper Gastrointestinal Research and led by the Korean Society of Gastrointestinal Endoscopy. These guidelines aimed to provide physicians, including endoscopists, with the indications, use of prophylactic antibiotics, timing of enteric nutrition, tube placement methods, complications, replacement, and tube removal for PEG based on the currently available clinical evidence.

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