Clinical Utility of Whole-Genome Analysis as One-for-All Test for Breast Cancer: A Case Series.

Autor: Shin K; Division of Oncology, Department of Internal Medicine, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, South Korea., Kim R; Genome Insight, San Diego, CA, USA., Park H; Genome Insight, San Diego, CA, USA., Lee W; Genome Insight, San Diego, CA, USA., Lee S; Genome Insight, San Diego, CA, USA., Im J; Genome Insight, San Diego, CA, USA., Lee JE; Division of Oncology, Department of Internal Medicine, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, South Korea., Kim SH; Department of Radiology, College of Medicine, Seoul Saint Mary's Hospital, The Catholic University of Korea, Seoul, South Korea., Connolly-Strong E; Genome Insight, San Diego, CA, USA., Ju YS; Genome Insight, San Diego, CA, USA., Oh BB; Genome Insight, San Diego, CA, USA., Lee J; Department of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Jazyk: angličtina
Zdroj: Case reports in oncology [Case Rep Oncol] 2024 Feb 23; Vol. 17 (1), pp. 317-328. Date of Electronic Publication: 2024 Feb 23 (Print Publication: 2024).
DOI: 10.1159/000536087
Abstrakt: Introduction: Breast cancer exhibits vast genomic diversity, leading to varied clinical manifestations. Integrating molecular subtyping with in-depth genomic profiling is pivotal for informed treatment choices and prognostic insights. Whole-genome clinical analysis provides a holistic view of genome-wide variations, capturing structural changes and affirming tumor suppressor gene loss of heterozygosity.
Case Presentation: Here we detail four unique breast cancer cases from Seoul St. Mary's Hospital, highlighting the actionable benefits and clinical value of whole-genome sequencing (WGS). As an all-in-one test, WGS demonstrates significant clinical utility in these cases, including: (1) detecting homologous recombination deficiency with underlying somatic causal variants (case 1), (2) distinguishing double primary cancer from metastasis (case 2), (3) uncovering microsatellite instability (case 3), and (4) identifying rare germline pathogenic variants in TP53 gene (case 4). Our observations underscore the enhanced clinical relevance of WGS-based testing beyond pinpointing a few driver mutations in conventional targeted panel sequencing platforms.
Conclusion: With genomic advancements and decreasing sequencing costs, WGS stands out as a transformative tool in oncology, paving the way for personalized treatment plans rooted in individual genetic blueprints.
Competing Interests: The authors have no conflicts of interest to declare except author information on the cover page.
(© 2024 The Author(s). Published by S. Karger AG, Basel.)
Databáze: MEDLINE
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