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Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution

Abstract: Papillary renal cell carcinoma (pRCC) is an important subtype of kidney cancer with a problematic pathological classification and highly variable clinical behaviour. Here we sequence the genomes or exomes of 31 pRCCs, and in four tumours, multi-region sequencing is undertaken. We identify BAP1, SETD2, ARID2 and Nrf2 pathway genes (KEAP1, NHE2L2 and CUL3) as probable drivers, together with at least eight other possible drivers. However, onlyB10% of tumours harbour detectable pathogenic changes in any one driver gene, and where present, the mutations are often predicted to be present within cancer sub-clones. We specifically detect parallel evolution of multiple SETD2 mutations within different sub-regions of the same tumour. By contrast, large copy number gains of chromosomes 7, 12, 16 and 17 are usually early, monoclonal changes in pRCC evolution. The predominance of large copy number variants as the major drivers for pRCC highlights an unusual mode of tumorigenesis that may challenge precision medicine approaches.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: Nature Communications. 2015 Mar 19;6:6336

Editorial: Nature Publishing Group

 Año de publicación: 2015

Nº de páginas: 11

Tipo de publicación: Artículo de Revista

 DOI: DOI: 10.1038/ncomms7336

ISSN: 2041-1723

Autores/as

KOVAC, M

NAVAS, C