دورية أكاديمية
Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience.
| العنوان: | Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience. |
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| المؤلفون: | Koh J; Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.; Cancer Research Institute, Seoul National University, Seoul, Korea., Kim J; Cancer Research Institute, Seoul National University, Seoul, Korea.; Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Woo GU; Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Yi H; Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Kwon SY; Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Seo J; Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Bae JM; Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Kim JH; Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Won JK; Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Ryu HS; Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.; Cancer Research Institute, Seoul National University, Seoul, Korea., Jeon YK; Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.; Cancer Research Institute, Seoul National University, Seoul, Korea., Lee DW; Cancer Research Institute, Seoul National University, Seoul, Korea.; Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Kim M; Cancer Research Institute, Seoul National University, Seoul, Korea.; Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Kim TY; Cancer Research Institute, Seoul National University, Seoul, Korea.; Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Lee KH; Cancer Research Institute, Seoul National University, Seoul, Korea.; Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Kim TY; Cancer Research Institute, Seoul National University, Seoul, Korea.; Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Lee JS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Kim S; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea., Lee S; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea., Yun H; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea., Song MG; Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea., Choi J; Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Korea., Kim JI; Cancer Research Institute, Seoul National University, Seoul, Korea.; Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Korea., Im SA; Cancer Research Institute, Seoul National University, Seoul, Korea.; Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea. |
| المصدر: | Cancer research and treatment [Cancer Res Treat] 2024 Aug 21. Date of Electronic Publication: 2024 Aug 21. |
| Publication Model: | Ahead of Print |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: The Association Country of Publication: Korea (South) NLM ID: 101155137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2005-9256 (Electronic) Linking ISSN: 15982998 NLM ISO Abbreviation: Cancer Res Treat Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Seoul, Korea : The Association, |
| مستخلص: | 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 seven 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. 97.6% 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 HER2 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. 10.3% 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. |
| فهرسة مساهمة: | Keywords: Breast neoplasms; Cancer evolution; Copy number variation; Fusion gene; Hereditary cancer; Mutation; Next-generation sequencing |
| تواريخ الأحداث: | Date Created: 20240820 Latest Revision: 20240820 |
| رمز التحديث: | 20240821 |
| DOI: | 10.4143/crt.2024.296 |
| PMID: | 39164082 |
| قاعدة البيانات: | MEDLINE |
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