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Clinical Utility of Whole-Genome Analysis as One-for-All Test for Breast Cancer: A Case Series.
Shin, Kabsoo; Kim, Ryul; Park, Hansol; Lee, Wonchul; Lee, Sangmoon; Im, Joonoh; Lee, Ji Eun; Kim, Sung Hun; Connolly-Strong, Erin; Ju, Young Seok; Oh, Brian Baek-Lok; Lee, Jeongmin.
Afiliação
  • 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.
Case Rep Oncol ; 17(1): 317-328, 2024.
Article em En | MEDLINE | ID: mdl-38404405
ABSTRACT

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.
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Case Rep Oncol Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Coréia do Sul

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Case Rep Oncol Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Coréia do Sul