Clinical Utility of Whole-Genome Analysis as One-for-All Test for Breast Cancer: A Case Series
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...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2024-02-01
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| Series: | Case Reports in Oncology |
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| Online Access: | https://beta.karger.com/Article/FullText/536087 |
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| author | Kabsoo Shin Ryul Kim Hansol Park Wonchul Lee Sangmoon Lee Joonoh Im Ji Eun Lee Sung Hun Kim Erin Connolly-Strong Young Seok Ju Brian Baek-Lok Oh Jeongmin Lee |
| author_facet | Kabsoo Shin Ryul Kim Hansol Park Wonchul Lee Sangmoon Lee Joonoh Im Ji Eun Lee Sung Hun Kim Erin Connolly-Strong Young Seok Ju Brian Baek-Lok Oh Jeongmin Lee |
| author_sort | Kabsoo Shin |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-07T19:39:17Z |
| format | Article |
| id | doaj.art-163cc040afc14e8e844eef650b620015 |
| institution | Directory Open Access Journal |
| issn | 1662-6575 |
| language | English |
| last_indexed | 2024-04-24T21:39:04Z |
| publishDate | 2024-02-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Oncology |
| spelling | doaj.art-163cc040afc14e8e844eef650b6200152024-03-21T08:27:29ZengKarger PublishersCase Reports in Oncology1662-65752024-02-0117131732810.1159/000536087536087Clinical Utility of Whole-Genome Analysis as One-for-All Test for Breast Cancer: A Case SeriesKabsoo Shin0Ryul Kim1Hansol Park2Wonchul Lee3Sangmoon Lee4Joonoh Im5Ji Eun Lee6Sung Hun Kim7Erin Connolly-Strong8Young Seok Ju9Brian Baek-Lok Oh10Jeongmin Lee11Division of Oncology, Department of Internal Medicine, Seoul St. Mary’s Hospital, The Catholic University of Korea, Seoul, Republic of KoreaGenome Insight, San Diego, CA, USAGenome Insight, San Diego, CA, USAGenome Insight, San Diego, CA, USAGenome Insight, San Diego, CA, USAGenome Insight, San Diego, CA, USADivision of Oncology, Department of Internal Medicine, Seoul St. Mary’s Hospital, The Catholic University of Korea, Seoul, Republic of KoreaDepartment of Radiology, College of Medicine, Seoul Saint Mary’s Hospital, The Catholic University of Korea, Seoul, Republic of KoreaGenome Insight, San Diego, CA, USAGenome Insight, San Diego, CA, USAGenome Insight, San Diego, CA, USADepartment of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of KoreaIntroduction: 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.https://beta.karger.com/Article/FullText/536087whole-genome sequencingcomprehensive genomic profilingbreast cancer |
| spellingShingle | Kabsoo Shin Ryul Kim Hansol Park Wonchul Lee Sangmoon Lee Joonoh Im Ji Eun Lee Sung Hun Kim Erin Connolly-Strong Young Seok Ju Brian Baek-Lok Oh Jeongmin Lee Clinical Utility of Whole-Genome Analysis as One-for-All Test for Breast Cancer: A Case Series Case Reports in Oncology whole-genome sequencing comprehensive genomic profiling breast cancer |
| title | Clinical Utility of Whole-Genome Analysis as One-for-All Test for Breast Cancer: A Case Series |
| title_full | Clinical Utility of Whole-Genome Analysis as One-for-All Test for Breast Cancer: A Case Series |
| title_fullStr | Clinical Utility of Whole-Genome Analysis as One-for-All Test for Breast Cancer: A Case Series |
| title_full_unstemmed | Clinical Utility of Whole-Genome Analysis as One-for-All Test for Breast Cancer: A Case Series |
| title_short | Clinical Utility of Whole-Genome Analysis as One-for-All Test for Breast Cancer: A Case Series |
| title_sort | clinical utility of whole genome analysis as one for all test for breast cancer a case series |
| topic | whole-genome sequencing comprehensive genomic profiling breast cancer |
| url | https://beta.karger.com/Article/FullText/536087 |
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