Journal article

Germ-line and somatic DICER1 mutations in pineoblastoma

Leanne de Kock, Nelly Sabbaghian, Harriet Druker, Evan Weber, Nancy Hamel, Suzanne Miller, Catherine S Choong, Nicholas G Gottardo, Ursula R Kees, Surya P Rednam, Liselotte P van Hest, Marjolijn C Jongmans, Shalini Jhangiani, James R Lupski, Margaret Zacharin, Dorothee Bouron-Dal Soglio, Annie Huang, John R Priest, Arie Perry, Sabine Mueller Show all

Acta Neuropathologica | SPRINGER | Published : 2014


Awarded by National Institutes of Health (NIH) - National Human Genome Research Institute

Awarded by The Brain Tumour Charity

Funding Acknowledgements

We thank the Children's Cancer and Leukaemia Group Tumour Bank for samples, Lisa Storer, Laura Zahavich, Dr Ute Bartels, Dr John-Paul Kilday, Dr Paul Nathan, Dr Armando Lorenzo, Dr Nalin Gupta and Dr Sharon Plon for their assistance with ascertainment and analysis of their respective cases and members of the Baylor-Hopkins Center for Mendelian Genomics their help with the exome sequencing of case 21. We also thank Pierre Lepage and the MUGQIC staff for designing primers for, optimizing and performing the Fluidigm Access Array capture and sequencing, and N. Benlimame (George and Olga Minarik Research Pathology Facility, Jewish General Hospital) for help with immunohistochemical analysis. This research was made possible thanks to the support of Alex's Lemonade Stand Foundation and The Brain Tumour Charity who fund the CNS PNET research at CBTRC. The identification of a DICER1 mutation in one patient was made by whole exome sequencing conducted at the Center for Mendelian Genomics, funded by The National Institutes of Health (NIH) and supported by the National Human Genome Research Institute grant U54HG006542 to the Baylor-Hopkins Center for Mendelian Genomics.