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Home › Dataset Library › Novel mutations target distinct subgroups of medulloblastoma.

Dataset: Novel mutations target distinct subgroups of medulloblastoma.

Medulloblastoma is a malignant childhood brain tumour comprising four discrete subgroups. To identify mutations that drive...

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Medulloblastoma is a malignant childhood brain tumour comprising four discrete subgroups. To identify mutations that drive medulloblastoma we sequenced the entire genomes of 37 tumours and matched normal blood. One hundred and thirty-six genes harbouring somatic mutations in this discovery set were sequenced in an additional 56 medulloblastomas. Recurrent mutations were detected in 41 genes not yet implicated in medulloblastoma: several target distinct components of the epigenetic machinery in different disease subgroups, e.g., regulators of H3K27 and H3K4 trimethylation in subgroup-3 and 4 (e.g., KDM6A and ZMYM3), and CTNNB1-associated chromatin remodellers in WNT-subgroup tumours (e.g., SMARCA4 and CREBBP). Modelling of mutations in mouse lower rhombic lip progenitors that generate WNT-subgroup tumours, identified genes that maintain this cell lineage (DDX3X) as well as mutated genes that initiate (CDH1) or cooperate (PIK3CA) in tumourigenesis. These data provide important new insights into the pathogenesis of medulloblastoma subgroups and highlight targets for therapeutic development. A total of 76 pediatric medulloblastoma samples were analyzed, representing 4 expression classes

Species:
human

Samples:
76

Source:
E-GEOD-37418

PubMed:
22722829

Updated:
Dec.12, 2014

Registered:
Sep.19, 2014


Factors: (via ArrayExpress)
Sample M STAGE AGE SEX SUBGROUP ETHNIC
GSM918578 MB-CL 8yrs 4mos male G4 White
GSM918579 MB-CL 8yrs 3mos male G4 Black
GSM918580 MB-CL 6yrs 6mos female WNT White
GSM91858 MB-CL 9yrs 2mos male G4 White
GSM918582 MB-DN 8yrs 6mos male SHH Asian
GSM918583 MB-CL 8yrs 1mos female G4 White
GSM918584 MB-CL 8yrs 8mos male G4 White
GSM918585 MB-CL 9yrs 0mos female G4 White
GSM918586 MB-AN 10yrs 10mos male G3 White
GSM918587 MB-CL 9yrs 8mos male G3 other
GSM918588 MB-CL 4yrs 11mos male G3 White
GSM918589 MB-CL 5yrs 2mos male G3 Hispanic
GSM918590 MB-AN 8yrs 9mos male G4 Hispanic
GSM91859 MB-CL 9yrs 4mos male G4 White
GSM918592 MB-CL 14yrs 8mos male G4 Hispanic
GSM918593 MB-CL 9yrs 1mos female WNT White
GSM918594 MB-AN 4yrs 8mos male G3 White
GSM918595 MB-CL 7yrs 9mos female G4 Asian Indian
GSM918596 MB-CL 3yrs 4mos female G4 White
GSM918597 MB-CL 5yrs 5mos male G4 White
GSM918598 MB-CL 11yrs 9mos male G4 White
GSM918599 MB-CL 6yrs 9mos male G4 Hispanic
GSM918600 MB-AN 12yrs 11mos male G3 White
GSM91860 MB-AN 3yrs 4mos male G3 White
GSM918602 MB-CL 13yrs 5mos female G4 Hispanic
GSM918603 MB-CL 11yrs 7mos male WNT White
GSM918604 MB-CL 3yrs 8mos male G4 White
GSM918605 MB-CL 5yrs 0mos male G4 White
GSM918606 MB-DN 16yrs 1mos female SHH White
GSM918607 MB-AN 10yrs 0mos female SHH Asian Indian
GSM918608 MB-CL 3yrs 2mos female SHH Asian
GSM918609 MB-AN 8yrs 7mos female SHH White
GSM918610 MB-AN 11yrs 9mos male G4 White
GSM9186 MB-CL 8yrs 7mos male G3 White
GSM918612 MB-AN 3yrs 2mos male G3 Hispanic
GSM918613 MB-CL 4yrs 3mos male G4 White
GSM918614 MB-AN 6yrs 11mos male G3 Hispanic
GSM918615 MB-AN 6yrs 2mos male G4 Hispanic
GSM918616 MB-AN 11yrs 7mos male G4 White
GSM918617 MB-CL 12yrs 11mos female G4 Asian
GSM918618 MB-Myo 10yrs 10mos male U White
GSM918619 MB-CL 16yrs 8mos male SHH White
GSM918620 MB-DN 7yrs 0mos female SHH Asian
GSM91862 MB-CL 8yrs 9mos male SHH Hispanic
GSM918622 MB-AN 6yrs 9mos female G4 Black
GSM918584 MB-CL 8yrs 8mos male G4 White
GSM918589 MB-CL 5yrs 2mos male G3 Hispanic
GSM918625 MB-CL 9yrs 2mos female WNT Pacific Islander
GSM918626 MB-CL 6yrs 4mos male G4 Hispanic
GSM918627 MB-CL 6yrs 11mos male G4 White
GSM918628 MB-DN 8yrs 4mos male SHH OUTLIER Black
GSM918629 MB-AN 13yrs 7mos male G3 White
GSM918630 MB-CL 6yrs 4mos female G4 Black
GSM91863 MB-CL 5yrs 9mos female G4 Asian Indian
GSM918632 MB-AN 9yrs 2mos male G4 White
GSM918584 MB-CL 8yrs 8mos male G4 White
GSM918634 MB-CL 8yrs 2mos male G4 White
GSM918635 MB-CL 5yrs 10mos male G4 Asian Indian
GSM918636 MB-AN 7yrs 1mos female G3 other
GSM918637 MB-CL 3yrs 11mos male G3 Asian
GSM918638 MB-CL 8yrs 2mos female WNT Hispanic
GSM918639 MB-CL 5yrs 0mos male G3 White
GSM918640 MB-CL 10yrs 3mos male G3 White
GSM91864 MB-CL 8yrs 5mos male WNT White
GSM918642 MB-CL 8yrs 5mos female WNT other
GSM918643 MB-CL 8yrs 4mos female WNT Asian
GSM918644 MB-Myo 9yrs 1mos female U Asian
GSM918627 MB-CL 6yrs 11mos male G4 White
GSM918646 MB-CL 9yrs 10mos male G4 White
GSM918647 MB-AN 11yrs 8mos male G4 White
GSM918648 MB-CL 12yrs 1mos male G4 White
GSM918649 MB-DN 4yrs 1mos male SHH White
GSM918650 MB-CL 12yrs 2mos male G4 White
GSM91865 MB-DN 5yrs 1mos male SHH White
GSM918652 MB-CL 10yrs 10mos male G4 Hispanic
GSM918653 MB-CL 5yrs 9mos male G4 Black

Tags

  • brain
  • cell
  • chromatin
  • disease
  • lip
  • medulloblastoma
  • pediatric medulloblastoma

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