Genomics

Dataset Information

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Whole-genome sequencing of bladder cancers of various stages and grades to search for driver mutations, chromosome-scale somatic changes, mutation signatures and clonal structures.


ABSTRACT: This discovery set of tumours cancers with whole-genome sequence data comprised 14 bladder cancers, paired with peripheral blood, that had been collected from unrelated individuals presenting to the Urology Department, Royal Hallamshire Hospital, Sheffield between June 2008 and September 2011. Four cancers were of low-grade papillary morphology (pTaG1-2), five were high grade invading the lamina propria (pT1G3, with two subsequently becoming muscle-invasive); and five were muscle-invasive (pT2-pT3). All tumours were sampled at transurethral resection or cystectomy and had not previously received any other therapy. The presence of a majority of cancer cells in the tumour specimens was confirmed by routine histological assessment. Genomic DNA was extracted from each tumour and paired blood sample using standard methods.

PROVIDER: EGAS00001000738 | EGA |

REPOSITORIES: EGA

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Publications

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden.

Cazier J-B JB   Rao S R SR   McLean C M CM   McLean C M CM   Walker A K AK   Wright B J BJ   Jaeger E E M EE   Kartsonaki C C   Marsden L L   Yau C C   Camps C C   Kaisaki P P   Taylor J J   Catto J W JW   Tomlinson I P M IP   Kiltie A E AE   Hamdy F C FC  

Nature communications 20140429


Bladder cancers are a leading cause of death from malignancy. Molecular markers might predict disease progression and behaviour more accurately than the available prognostic factors. Here we use whole-genome sequencing to identify somatic mutations and chromosomal changes in 14 bladder cancers of different grades and stages. As well as detecting the known bladder cancer driver mutations, we report the identification of recurrent protein-inactivating mutations in CDKN1A and FAT1. The former are n  ...[more]

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