An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene
This study demonstrates a molecular diagnostic yield of 23.4% in participants with both anomalies and cancer. Additionally, the findings further implicate the role of <i>KAT6B</i> as a novel neuroblastoma predisposition gene.
Authors
- Jennifer E. Posey (ORCID: https://orcid.org/0000-0003-4814-6765)
- Michael E. Scheurer (ORCID: https://orcid.org/0000-0002-8379-6088)
- Pamela Mishra
- Xi Yao (ORCID: https://orcid.org/0000-0001-8986-3571)
- Danielle Mitchell (ORCID: https://orcid.org/0000-0001-8692-5407)
- Sharon E. Plon (ORCID: https://orcid.org/0000-0002-9626-0936)
- Marie‐Claude Gingras (ORCID: https://orcid.org/0000-0003-2570-6360)
- Sravya Bhamidipati (ORCID: https://orcid.org/0009-0001-4609-8627)
- Hyunjung Gu (ORCID: https://orcid.org/0000-0001-8673-7326)
- HarshaVardhan Doddapaneni (ORCID: https://orcid.org/0000-0002-2433-633X)
- Saumya D. Sisoudiya (ORCID: https://orcid.org/0000-0001-7276-8084)
- Philip J. Lupo (ORCID: https://orcid.org/0000-0003-0978-5863)
- Shalini N. Jhangiani (ORCID: https://orcid.org/0000-0002-6674-0074)
- Olga A. Taylor
- Jeremy M. Schraw (ORCID: https://orcid.org/0000-0002-6674-9562)
- Aniko Sabo (ORCID: https://orcid.org/0000-0002-9667-8072)
- Shannon Dugan‐Perez (ORCID: https://orcid.org/0000-0003-1482-816X)
- He Li (ORCID: https://orcid.org/0000-0002-1766-5311)
- Yifan Wu (ORCID: https://orcid.org/0000-0001-6434-5911)
- Donna M. Muzny
- Chad Huff
- Richard A. Gibbs (ORCID: https://orcid.org/0000-0003-4814-6765)
Institutions
- The University of Texas MD Anderson Cancer Center (US)
- Baylor College of Medicine (US)
- Texas Children's Hospital (US)
- Children's Cancer Center (US)
- Baylor Genetics (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2024-11-08
- DOI
- https://doi.org/10.1016/j.gimo.2024.101901
- Citations
- 2
- Primary Topic
- Neuroblastoma Research and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.74
Funders
- Cancer Prevention and Research Institute of Texas
- National Institutes of Health