Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
- Author:
Jiwon KOH
1
;
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
Author Information
- Publication Type:Original Article
- From:Cancer Research and Treatment 2025;57(2):443-456
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
