Investigation of DNA Damage Response Genes Validates the Role of DNA Repair in Pediatric Cancer Risk and Identifies <i>SMARCAL1</i> as a Novel Osteosarcoma Predisposition Gene
Our study confirms the relevance DDR genetic variation in pediatric cancer risk and establishes <i>SMARCAL1</i> as a novel OS predisposing gene, providing insights into tumor biology and creating opportunities to optimize care for patients with this challenging tumor.
Authors
- Kristian W. Pajtler (ORCID: https://orcid.org/0000-0002-3562-6121)
- Ninad Oak (ORCID: https://orcid.org/0000-0002-9806-0217)
- Lynn Harrison (ORCID: https://orcid.org/0000-0001-7595-080X)
- Michaela Nathrath (ORCID: https://orcid.org/0000-0002-1584-1115)
- Steffen Hirsch (ORCID: https://orcid.org/0000-0002-4920-0930)
- Jiaming Li (ORCID: https://orcid.org/0000-0002-2017-3377)
- Greg Armstrong (ORCID: https://orcid.org/0000-0002-3393-7954)
- Kim E. Nichols (ORCID: https://orcid.org/0000-0002-5581-6555)
- Gang Wu (ORCID: https://orcid.org/0000-0002-1678-5864)
- Robert J. Autry (ORCID: https://orcid.org/0000-0002-6965-2942)
- Alise K. Blake (ORCID: https://orcid.org/0000-0002-1336-7106)
- Yadav Sapkota (ORCID: https://orcid.org/0000-0001-5943-9454)
- Kirsten K. Ness (ORCID: https://orcid.org/0000-0002-2084-1507)
- Stefan M. Pfister (ORCID: https://orcid.org/0000-0002-5447-5322)
- Uta Dirksen (ORCID: https://orcid.org/0000-0002-5435-7860)
- Wenan Chen (ORCID: https://orcid.org/0000-0003-0379-2368)
- Christopher Previti (ORCID: https://orcid.org/0009-0008-5452-0075)
- Christian P. Kratz (ORCID: https://orcid.org/0000-0003-4120-5873)
- Judith Penkert (ORCID: https://orcid.org/0000-0002-1375-507X)
- Lillian M. Guenther (ORCID: https://orcid.org/0000-0002-5906-7504)
- Kendra K. Maaß (ORCID: https://orcid.org/0000-0001-9357-5038)
- Gnanaprakash Balasubramanian
- Melissa M. Hudson (ORCID: https://orcid.org/0000-0001-6984-2407)
- David Jones (ORCID: https://orcid.org/0000-0002-2036-5141)
- Richa Sharma (ORCID: https://orcid.org/0000-0003-0462-661X)
- Zhaoming Wang (ORCID: https://orcid.org/0000-0001-7556-3869)
- Olaf Witt (ORCID: https://orcid.org/0000-0003-3918-9157)
- Barbara C. Jones (ORCID: https://orcid.org/0009-0003-9087-6013)
- Kathrin Schramm (ORCID: https://orcid.org/0009-0006-7355-6378)
- Martha A. O’Brien
Institutions
- St. Jude Children's Research Hospital (US)
- Mayo Clinic (US)
- German Cancer Research Center (DE)
- Heidelberg University (DE)
- University Hospital Heidelberg (DE)
- Medizinische Hochschule Hannover (DE)
- German Cancer Society (DE)
- Center for Cancer and Blood Disorders (US)
- National Center for Tumor Diseases (DE)
- Hopp Children's Cancer Center Heidelberg (DE)
- Essen University Hospital (DE)
- Deutsche Montan Technologie (Germany) (DE)
- West German Heart and Vascular Center Essen (DE)
- Deutsches Konsortium für Translationale Krebsforschung (DE)
Publication Details
- Journal
- Journal of Clinical Oncology
- Published
- 2025-10-09
- DOI
- https://doi.org/10.1200/jco-25-01114
- Citations
- 3
- Primary Topic
- Acute Lymphoblastic Leukemia research
- Type
- article
- Field-Weighted Citation Impact
- 5.64