Genomics

Dataset Information

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Ena-DATASET-CRUK-LRI-05-08-2014-14:10:54:243-46 - samples


ABSTRACT: Van Hippel-Lindau syndrome multi-region exome sequencing of two patients

PROVIDER: EGAD00001000973 | EGA |

REPOSITORIES: EGA

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Publications

Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution.

Fisher Rosalie R   Horswell Stuart S   Rowan Andrew A   Salm Maximilian P MP   de Bruin Elza C EC   Gulati Sakshi S   McGranahan Nicholas N   Stares Mark M   Gerlinger Marco M   Varela Ignacio I   Crockford Andrew A   Favero Francesco F   Quidville Virginie V   André Fabrice F   Navas Carolina C   Grönroos Eva E   Nicol David D   Hazell Steve S   Hrouda David D   O'Brien Tim T   Matthews Nik N   Phillimore Ben B   Begum Sharmin S   Rabinowitz Adam A   Biggs Jennifer J   Bates Paul A PA   McDonald Neil Q NQ   Stamp Gordon G   Spencer-Dene Bradley B   Hsieh James J JJ   Xu Jianing J   Pickering Lisa L   Gore Martin M   Larkin James J   Swanton Charles C  

Genome biology 20140827 8


<h4>Background</h4>Genomic analysis of multi-focal renal cell carcinomas from an individual with a germline VHL mutation offers a unique opportunity to study tumor evolution.<h4>Results</h4>We perform whole exome sequencing on four clear cell renal cell carcinomas removed from both kidneys of a patient with a germline VHL mutation. We report that tumors arising in this context are clonally independent and harbour distinct secondary events exemplified by loss of chromosome 3p, despite an identica  ...[more]

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