Genomics

Dataset Information

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Ena-DATASET-OBMDC-02-06-2014-16:18:34:907-525 - samples


ABSTRACT: WGS of 14 paired samples of Bladder Cancer patient

PROVIDER: EGAD00001000865 | 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]

Publication: 1/2

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