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.Correlation between Blood Pressure and Left Ventricular Function in Neonates: A Retrospective Observational Study
Na Mi LEE ; Na Li YU ; Dae Yong YI ; Sin Weon YUN ; Soo Ahn CHAE ; Hyun KANG
Neonatal Medicine 2024;31(3):65-72
Purpose:
Ejection fraction, measured as the fraction of blood ejected from the ventricle in each heartbeat using M-mode echocardiography, serves as a primary indicator of left ventricular systolic function. This study explores the correlation between blood pressure and left ventricular systolic function in neonates using M-mode echocardiography.
Methods:
Neonates who underwent echocardiography in the neonatal intensive care unit between January 2011 and December 2020 were retrospectively studied.
Results:
Our analyses showed a significant association between ejection fraction and systolic blood pressure, but not with diastolic or mean blood pressure—both of which are more sensitive to hypotension. Ejection fraction was also not significantly associated with heart rate, urine output, or inotropic support in this study, suggesting that factors influencing urine output may not directly relate to ejection fraction. Additionally, we found that higher systolic blood pressure was correlated with advanced gestational age, the absence of patent ductus arteriosus, and no need for fentanyl administration. Notably, lower gestational age and lack of mechanical ventilation were both associated with increased hourly urine output, suggesting that developmental maturity and respiratory stability may influence renal function.
Conclusion
Neonatal hypotension occurred secondary to decreased systolic cardiac function and peripheral vascular resistance. Neonatologists should carefully monitor the individual components of blood pressure and prescribe medications accordingly, considering that systolic blood pressure is correlated with ejection function.
5.Relationship of MicroRNA according to Immune Components of Breast Milk in Korean Lactating Mothers
You Jin CHOI ; Da Hye LEE ; Jeonglyn SONG ; Ki-Uk KIM ; Hyeyoung MIN ; Sung-Hoon CHUNG ; Tae Hyeong KIM ; Chae-Young KIM ; Insoo KANG ; Na Mi LEE ; Dae Yong YI
Pediatric Gastroenterology, Hepatology & Nutrition 2024;27(5):322-331
Purpose:
Human breast milk (HBM) contains immune components that produced and delivered from the mother along with nutrients necessary for the baby. MicroRNA (miRNA) is a small noncoding RNA molecule, that is used as an ideal biomarker for diagnosis and prognosis of various diseases and are more abundant in HBM. We analyzed and compared the immune components and miRNAs of HBM.
Methods:
HBM were collected from 20 healthy breastfeeding mothers. We measured the amount of lactoferrin, lysozyme, and immunoglobulin A (IgA) and extracted the miRNAs from each breast milk samples. Next, the top 5 and bottom 5 expressed miRNAs were compared and analyzed based on the amounts of the 3 immune components.
Results:
The mean levels and ranges of lactoferrin, lysozyme, and IgA were 6.33 (2.24–14.77)×106 ng/mL, 9.90 (1.42–17.59)×107 pg/mL, and 6.64 (0.48–20.01)×105 ng/mL, respectively. The miRNAs concentration per 1 mL of skim milk was 40.54 (14.95–110.01) ng/μL. Comparing the bottom 5 and top 5 groups of each immune component, 19 miRNAs were significantly upregulated (6, 9, and 4 targeting lactoferrin, lysozyme, and IgA, respectively) and 21 were significantly downregulated (4, 9, and 8 targeting lactoferrin, lysozyme, and IgA, respectively). There were no miRNAs that were expressed significantly higher or lower in common to all 3 components.However, 2 and 3 miRNAs were commonly overexpressed and underexpressed, in the top 5 groups of lysozyme and IgA concentrations.
Conclusion
We identified the immune components and miRNAs in breast milk and found that each individual has different ingredients.
6.Correlation between Blood Pressure and Left Ventricular Function in Neonates: A Retrospective Observational Study
Na Mi LEE ; Na Li YU ; Dae Yong YI ; Sin Weon YUN ; Soo Ahn CHAE ; Hyun KANG
Neonatal Medicine 2024;31(3):65-72
Purpose:
Ejection fraction, measured as the fraction of blood ejected from the ventricle in each heartbeat using M-mode echocardiography, serves as a primary indicator of left ventricular systolic function. This study explores the correlation between blood pressure and left ventricular systolic function in neonates using M-mode echocardiography.
Methods:
Neonates who underwent echocardiography in the neonatal intensive care unit between January 2011 and December 2020 were retrospectively studied.
Results:
Our analyses showed a significant association between ejection fraction and systolic blood pressure, but not with diastolic or mean blood pressure—both of which are more sensitive to hypotension. Ejection fraction was also not significantly associated with heart rate, urine output, or inotropic support in this study, suggesting that factors influencing urine output may not directly relate to ejection fraction. Additionally, we found that higher systolic blood pressure was correlated with advanced gestational age, the absence of patent ductus arteriosus, and no need for fentanyl administration. Notably, lower gestational age and lack of mechanical ventilation were both associated with increased hourly urine output, suggesting that developmental maturity and respiratory stability may influence renal function.
Conclusion
Neonatal hypotension occurred secondary to decreased systolic cardiac function and peripheral vascular resistance. Neonatologists should carefully monitor the individual components of blood pressure and prescribe medications accordingly, considering that systolic blood pressure is correlated with ejection function.
7.Relationship of MicroRNA according to Immune Components of Breast Milk in Korean Lactating Mothers
You Jin CHOI ; Da Hye LEE ; Jeonglyn SONG ; Ki-Uk KIM ; Hyeyoung MIN ; Sung-Hoon CHUNG ; Tae Hyeong KIM ; Chae-Young KIM ; Insoo KANG ; Na Mi LEE ; Dae Yong YI
Pediatric Gastroenterology, Hepatology & Nutrition 2024;27(5):322-331
Purpose:
Human breast milk (HBM) contains immune components that produced and delivered from the mother along with nutrients necessary for the baby. MicroRNA (miRNA) is a small noncoding RNA molecule, that is used as an ideal biomarker for diagnosis and prognosis of various diseases and are more abundant in HBM. We analyzed and compared the immune components and miRNAs of HBM.
Methods:
HBM were collected from 20 healthy breastfeeding mothers. We measured the amount of lactoferrin, lysozyme, and immunoglobulin A (IgA) and extracted the miRNAs from each breast milk samples. Next, the top 5 and bottom 5 expressed miRNAs were compared and analyzed based on the amounts of the 3 immune components.
Results:
The mean levels and ranges of lactoferrin, lysozyme, and IgA were 6.33 (2.24–14.77)×106 ng/mL, 9.90 (1.42–17.59)×107 pg/mL, and 6.64 (0.48–20.01)×105 ng/mL, respectively. The miRNAs concentration per 1 mL of skim milk was 40.54 (14.95–110.01) ng/μL. Comparing the bottom 5 and top 5 groups of each immune component, 19 miRNAs were significantly upregulated (6, 9, and 4 targeting lactoferrin, lysozyme, and IgA, respectively) and 21 were significantly downregulated (4, 9, and 8 targeting lactoferrin, lysozyme, and IgA, respectively). There were no miRNAs that were expressed significantly higher or lower in common to all 3 components.However, 2 and 3 miRNAs were commonly overexpressed and underexpressed, in the top 5 groups of lysozyme and IgA concentrations.
Conclusion
We identified the immune components and miRNAs in breast milk and found that each individual has different ingredients.
8.Correlation between Blood Pressure and Left Ventricular Function in Neonates: A Retrospective Observational Study
Na Mi LEE ; Na Li YU ; Dae Yong YI ; Sin Weon YUN ; Soo Ahn CHAE ; Hyun KANG
Neonatal Medicine 2024;31(3):65-72
Purpose:
Ejection fraction, measured as the fraction of blood ejected from the ventricle in each heartbeat using M-mode echocardiography, serves as a primary indicator of left ventricular systolic function. This study explores the correlation between blood pressure and left ventricular systolic function in neonates using M-mode echocardiography.
Methods:
Neonates who underwent echocardiography in the neonatal intensive care unit between January 2011 and December 2020 were retrospectively studied.
Results:
Our analyses showed a significant association between ejection fraction and systolic blood pressure, but not with diastolic or mean blood pressure—both of which are more sensitive to hypotension. Ejection fraction was also not significantly associated with heart rate, urine output, or inotropic support in this study, suggesting that factors influencing urine output may not directly relate to ejection fraction. Additionally, we found that higher systolic blood pressure was correlated with advanced gestational age, the absence of patent ductus arteriosus, and no need for fentanyl administration. Notably, lower gestational age and lack of mechanical ventilation were both associated with increased hourly urine output, suggesting that developmental maturity and respiratory stability may influence renal function.
Conclusion
Neonatal hypotension occurred secondary to decreased systolic cardiac function and peripheral vascular resistance. Neonatologists should carefully monitor the individual components of blood pressure and prescribe medications accordingly, considering that systolic blood pressure is correlated with ejection function.
9.Relationship of MicroRNA according to Immune Components of Breast Milk in Korean Lactating Mothers
You Jin CHOI ; Da Hye LEE ; Jeonglyn SONG ; Ki-Uk KIM ; Hyeyoung MIN ; Sung-Hoon CHUNG ; Tae Hyeong KIM ; Chae-Young KIM ; Insoo KANG ; Na Mi LEE ; Dae Yong YI
Pediatric Gastroenterology, Hepatology & Nutrition 2024;27(5):322-331
Purpose:
Human breast milk (HBM) contains immune components that produced and delivered from the mother along with nutrients necessary for the baby. MicroRNA (miRNA) is a small noncoding RNA molecule, that is used as an ideal biomarker for diagnosis and prognosis of various diseases and are more abundant in HBM. We analyzed and compared the immune components and miRNAs of HBM.
Methods:
HBM were collected from 20 healthy breastfeeding mothers. We measured the amount of lactoferrin, lysozyme, and immunoglobulin A (IgA) and extracted the miRNAs from each breast milk samples. Next, the top 5 and bottom 5 expressed miRNAs were compared and analyzed based on the amounts of the 3 immune components.
Results:
The mean levels and ranges of lactoferrin, lysozyme, and IgA were 6.33 (2.24–14.77)×106 ng/mL, 9.90 (1.42–17.59)×107 pg/mL, and 6.64 (0.48–20.01)×105 ng/mL, respectively. The miRNAs concentration per 1 mL of skim milk was 40.54 (14.95–110.01) ng/μL. Comparing the bottom 5 and top 5 groups of each immune component, 19 miRNAs were significantly upregulated (6, 9, and 4 targeting lactoferrin, lysozyme, and IgA, respectively) and 21 were significantly downregulated (4, 9, and 8 targeting lactoferrin, lysozyme, and IgA, respectively). There were no miRNAs that were expressed significantly higher or lower in common to all 3 components.However, 2 and 3 miRNAs were commonly overexpressed and underexpressed, in the top 5 groups of lysozyme and IgA concentrations.
Conclusion
We identified the immune components and miRNAs in breast milk and found that each individual has different ingredients.
10.Correlation between Blood Pressure and Left Ventricular Function in Neonates: A Retrospective Observational Study
Na Mi LEE ; Na Li YU ; Dae Yong YI ; Sin Weon YUN ; Soo Ahn CHAE ; Hyun KANG
Neonatal Medicine 2024;31(3):65-72
Purpose:
Ejection fraction, measured as the fraction of blood ejected from the ventricle in each heartbeat using M-mode echocardiography, serves as a primary indicator of left ventricular systolic function. This study explores the correlation between blood pressure and left ventricular systolic function in neonates using M-mode echocardiography.
Methods:
Neonates who underwent echocardiography in the neonatal intensive care unit between January 2011 and December 2020 were retrospectively studied.
Results:
Our analyses showed a significant association between ejection fraction and systolic blood pressure, but not with diastolic or mean blood pressure—both of which are more sensitive to hypotension. Ejection fraction was also not significantly associated with heart rate, urine output, or inotropic support in this study, suggesting that factors influencing urine output may not directly relate to ejection fraction. Additionally, we found that higher systolic blood pressure was correlated with advanced gestational age, the absence of patent ductus arteriosus, and no need for fentanyl administration. Notably, lower gestational age and lack of mechanical ventilation were both associated with increased hourly urine output, suggesting that developmental maturity and respiratory stability may influence renal function.
Conclusion
Neonatal hypotension occurred secondary to decreased systolic cardiac function and peripheral vascular resistance. Neonatologists should carefully monitor the individual components of blood pressure and prescribe medications accordingly, considering that systolic blood pressure is correlated with ejection function.

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