Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Kindler, O; Quehenberger, F; Benesch, M; Seidel, MG.
The Iceberg Map of germline mutations in childhood cancer: focus on primary immunodeficiencies.
Curr Opin Pediatr. 2018; 30(6):855-863
Doi: 10.1097/MOP.0000000000000680
Web of Science
PubMed
FullText
FullText_MUG
- Führende Autor*innen der Med Uni Graz
- Kindler Oliver
- Seidel Markus
- Co-Autor*innen der Med Uni Graz
- Benesch Martin
- Quehenberger Franz
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- Abstract:
- The risk of cancer is higher, and its outcome is worse in patients with primary immunodeficiency (PID) than in members of the general population. Thus, the inter-relationship of malignant diseases with PIDs requires more study. Large genetic screens identified a vast number of germline mutations in childhood cancer patient samples. Although TP53 was the most frequent single gene identified as mutated, many PID disorders like DNA repair defects are among the inborn causes of childhood cancer. We provide a comprehensive analysis of compiled data from seven recent studies that focused on germline genetic landscapes and preexisting conditions in pediatric oncology. As potentially causal germline variants were identified in ≈8% of malignancies in children and adolescents, we visualized this proportion as the 'tips of the icebergs'. The results of additional network analyses showed the shared patterns of germline mutations in various malignancies and yielded a spatial distribution of the 'icebergs'. The 'iceberg map of germline mutations in childhood cancers' was created to increase the awareness of the inborn genetic underpinnings of childhood malignancies and their relationships with immunodeficiencies. Needs and perspectives of clinical immunologists and pediatric oncologists to both improve patient care and guide research at this critical interface are discussed. VIDEO ABSTRACT.
- Find related publications in this database (using NLM MeSH Indexing)
- Causality -
- Child -
- DNA Mutational Analysis -
- Disease Management -
- Genetic Predisposition to Disease - genetics
- Germ-Line Mutation - genetics
- Humans -
- Immunologic Deficiency Syndromes - genetics
- Immunologic Deficiency Syndromes - immunology
- Immunologic Deficiency Syndromes - physiopathology
- Neoplasms - genetics
- Neoplasms - immunology
- Neoplasms - physiopathology
- Pediatrics -
- Phenotype -
- Tumor Suppressor Protein p53 - genetics
- Find related publications in this database (Keywords)
- cancer predisposition syndrome
- diseasome
- germline mutation
- network analysis
- pediatric hematology-oncology
- primary immunodeficiency