Research graph
References from Clinically actionable genetic findings by exome sequencing performed for therapeutic purposes in children with very-high risk cancer included the MAPPYACTS study. Local targets link to admitted publications; unresolved targets remain external evidence.
Molecular screening for cancer treatment optimization (MOSCATO-01) in pediatric patients: a single-institution prospective molecular stratification trial
10.1158/1078-0432.ccr-17-0381 · 2017 · External reference
The European MAPPYACTS trial: precision medicine program in pediatric and adolescent patients with recurrent malignancies
10.1158/2159-8290.cd-21-1136 · 2022 · External reference
The pediatric precision oncology INFORM registry: clinical outcome and benefit for patients with very high-evidence targets
10.1158/2159-8290.cd-21-0094 · 2021 · External reference
Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome, and transcriptome
10.1038/s41467-018-06485-7 · 2018 · External reference
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
10.1038/s41591-020-1072-4 · 2020 · External reference
Right to know and right to ignore in paediatric oncogenetics: identifying biological causes or seeking for meaning?
10.1016/j.ejca.2016.04.021 · 2016 · External reference
Germline rare variants in cancer susceptibility genes and subsequent neoplasm risk after childhood cancer
10.1093/jnci/djaf260 · 2025 · External reference
The landscape of genomic alterations across childhood cancers
10.1038/nature25480 · 2018 · External reference
Germline mutations in predisposition genes in pediatric cancer
10.1056/nejmoa1508054 · 2015 · External reference
Implementation of paediatric precision oncology into clinical practice: the individualized therapies for children with cancer program (iTHER)
10.1016/j.ejca.2022.09.001 · 2022 · External reference
10.1158/1078-0432.ccr-17-0702
10.1158/1078-0432.ccr-17-0702 · External reference
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
10.1038/gim.2013.73 · 2013 · External reference
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing
2022 · External reference
Unresolved reference
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Unresolved reference
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SPiP: splicing prediction pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
10.1002/humu.24491 · 2022 · External reference
RNA-based diagnostic studies in genetics: review and guidance from a multidisciplinary French network
10.1038/s41431-025-01881-2 · 2025 · External reference
Frequency of pathogenic germline variants in cancer-susceptibility genes in the Childhood Cancer Survivor Study
10.1093/jncics/pkab007 · 2021 · External reference
Cancer predisposition syndromes as a risk factor for early second primary neoplasms after childhood cancer: a national cohort study
10.1016/j.ejca.2020.11.042 · 2021 · External reference
Frequency of pathogenic germline variants in cancer-susceptibility genes in patients with osteosarcoma
10.1001/jamaoncol.2020.0197 · 2020 · External reference
Revisiting Li-Fraumeni syndrome from TP53 mutation carriers
10.1200/jco.2014.59.5728 · 2015 · External reference
Occurrence of neuroblastoma among TP53 p.R337H carriers
10.1371/journal.pone.0140356 · 2015 · External reference
Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population
10.1002/humu.24376 · 2022 · External reference
10.1016/j.lanepe.2024.101183
10.1016/j.lanepe.2024.101183 · External reference
Systematic discovery of germline cancer predisposition genes through the identification of somatic second hits
10.1038/s41467-018-04900-7 · 2018 · External reference
ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing
2025 · External reference
Psychological and ethical issues raised by genomics in paediatric care pathways: a qualitative analysis with parents and childhood cancer patients
10.1038/s41431-024-01653-4 · 2024 · External reference
Expectations, needs and mid-term outcomes in people accessing secondary findings from exome sequencing: first French mixed study (FIND study)
10.1038/s41431-024-01616-9 · 2024 · External reference
Secondary findings in hereditary cancer genes after germline genetic testing: a systematic review of the literature
10.1007/s00439-025-02746-w · 2025 · External reference
