Evidence map›Paper›PMID 39164082›Full record

ArticleCancer research and treatment2025

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 and 15 more

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Article in Cancer research and treatment, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

25 authors.

Jiwon KohDepartment of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Jinyong KimCancer Research Institute, Seoul National University, Seoul, Korea.
Go-Un WooDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Hanbaek YiDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
So Yean KwonDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Jeongmin SeoDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Jeong Mo BaeDepartment of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Jung Ho KimDepartment of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Jae Kyung WonDepartment of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Han Suk RyuDepartment of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Yoon Kyung JeonDepartment of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Dae-Won LeeCancer Research Institute, Seoul National University, Seoul, Korea.
Miso KimCancer Research Institute, Seoul National University, Seoul, Korea.
Tae-Yong KimCancer Research Institute, Seoul National University, Seoul, Korea.
Kyung-Hun LeeCancer Research Institute, Seoul National University, Seoul, Korea.
Tae-You KimCancer Research Institute, Seoul National University, Seoul, Korea.
Jee-Soo LeeDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Moon-Woo SeongDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Sheehyun KimDepartment of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.
Sungyoung LeeDepartment of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.
Hongseok YunDepartment of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.
Myung Geun SongBiomedical Research Institute, Seoul National University Hospital, Seoul, Korea.
Jaeyong ChoiGenomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Korea.
Jong-Il KimCancer Research Institute, Seoul National University, Seoul, Korea.
Seock-Ah ImCancer Research Institute, Seoul National University, Seoul, Korea.

Funding

Ministry of Health and Welfare HR14C0003
6 · The paper itself

Abstract

purposeConsidering 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

methodsWe 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.

resultsNGS 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.

conclusionClinical 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.

Indexed as

Biomarkers, TumorBreast NeoplasmsHigh-Throughput Nucleotide SequencingAdultAgedAged, 80 and overFemaleHumansMiddle AgedMutationPrecision MedicinePrognosisRepublic of KoreaBiomarkers, TumorBreast neoplasmsCancer evolutionCopy number variationFusion geneHereditary cancerMutationNext-generation sequencing

Identifiers

PMID39164082
PMCPMC12016828

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.