Journal article

Biallelic FANCD1/BRCA2 mutations predisposing to glioblastoma multiforme with multiple oncogenic amplifications

Andrew J Dodgshun, Alexandra Sexton-Oates, Richard Saffery, Michael J Sullivan



Fanconi anaemia (FA) caused by biallelic mutation in FANCD1/BRCA2 is rare but carries a high risk of early onset cancer. Medulloblastoma is well described in this cohort but reports of other brain tumours are uncommon. The molecular profile of tumours from FA patients is not well reported. A glioblastoma multiforme (GBM) from a 3-year-old patient with FA and confirmed biallelic BRCA2 mutations was submitted for methylation analysis. This revealed strong clustering with the K27 mutation subgroup and copy number analysis showed gains of chromosomes 1q, 4q, part of 7q, part of 8q and 17q with resultant amplifications of MDM4, CDK6, MET, MYC and PPM1D (WIP1). We also describe for the first time ..

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Awarded by Genesis Oncology Trust New Zealand

Funding Acknowledgements

The authors acknowledge Dr Karin Tiedemann for her care of this patient and his family and Dr David Jones for providing access to the bank of tumours at DKFZ. Dr Dodgshun is supported by the Genesis Oncology Trust New Zealand (GOT-1443-MJCF).