Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study
Approximately 18% of a diverse pediatric cancer population had germline diagnostic findings with 50% of P/LP variants reported by only one platform because of CPGs not on the targeted panel and copy number variants (CNVs)/rearrangements not reported by exome. Although diagnostic yields were similar in this diverse population, increases in VUS results were observed in Asian and African American populations. Given the clinical significance of CNVs/rearrangements in this cohort, detection is critical to optimize germline analysis of pediatric cancer populations.
Authors
- Juan Carlos Bernini
- Rebecca O. Littlejohn
- Rebecca Althaus
- Jacquelyn Reuther
- Jessica Corredor
- Shashikant Kulkarni (ORCID: https://orcid.org/0000-0002-7081-1090)
- Sharon E. Plon (ORCID: https://orcid.org/0000-0002-9626-0936)
- Robin Raesz-Martinez
- Shawn Gessay
- George Miles (ORCID: https://orcid.org/0000-0002-1554-3214)
- D. Williams Parsons (ORCID: https://orcid.org/0000-0002-8775-3501)
- Kimberly Nugent (ORCID: https://orcid.org/0000-0003-2161-3239)
- Jonathan Gill (ORCID: https://orcid.org/0000-0001-7796-8632)
- Alva Recinos
- Rachel Wyatt (ORCID: https://orcid.org/0000-0002-1771-5358)
- Amy Thomas (ORCID: https://orcid.org/0009-0005-1186-0115)
- Gail E. Tomlinson (ORCID: https://orcid.org/0000-0003-2579-1833)
- Sarah Scollon (ORCID: https://orcid.org/0000-0003-2017-0245)
- Emily Berenson
- Amy L. McGuire (ORCID: https://orcid.org/0000-0002-7819-519X)
- Angshumoy Roy (ORCID: https://orcid.org/0000-0001-7248-8576)
- Eunji Jo (ORCID: https://orcid.org/0000-0002-6432-3058)
- Kelly Vallance (ORCID: https://orcid.org/0000-0003-4185-921X)
- Susan Galloway Hilsenbeck (ORCID: https://orcid.org/0000-0002-7962-673X)
- Heidi V. Russell (ORCID: https://orcid.org/0000-0002-6394-4709)
- Hongzheng Dai (ORCID: https://orcid.org/0000-0002-0103-876X)
- Frank Y. Lin (ORCID: https://orcid.org/0000-0001-6738-844X)
- Lauren Desrosiers (ORCID: https://orcid.org/0000-0002-0991-8155)
- Tao Wang (ORCID: https://orcid.org/0000-0003-1957-7160)
- Stephanie Gutierrez
- Christine M. Eng (ORCID: https://orcid.org/0009-0008-8627-8228)
- Timothy Griffin
Institutions
- The University of Texas MD Anderson Cancer Center (US)
- The University of Texas at San Antonio Health Science Center (US)
- Baylor College of Medicine (US)
- Cook Children's Medical Center (US)
- Children's Hospital of San Antonio (US)
- Cook Children's Health Care System (US)
- Texas Children's Hospital (US)
- Baylor Genetics (US)
- The University of Texas Health Science Center at Houston (US)
Publication Details
- Journal
- JCO Precision Oncology
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1200/po.24.00187
- Citations
- 5
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 2.75
Funders
- National Human Genome Research Institute
- National Cancer Institute