Epigenetic and genetic profiles of rare renal cancers

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Slater, Amy Amelia (2016). Epigenetic and genetic profiles of rare renal cancers. University of Birmingham. Ph.D.

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Abstract

The aim of this study was to characterise the genetic and epigenetic profiles of rare forms of sporadic renal cancers (RCC) and identify differential patterns of DNA methylation or somatic mutations that may permit distinction between different subtypes of RCC and could facilitate disease prognosis or identify molecular pathways that could be targeted therapeutically. Illumina Infinium HumanMethylation 450K BeadChip permitted the comparison of the epigenome of the malignant chromophobe RCC and the benign renal oncocytoma. This study identified several genes to be differentially hypermethylated in chromophobe RCC, and renal oncocytoma showing that although both visually and pathologically similar, both tumours have a distinct methylation pattern. Whole exome sequencing (WES) of renal oncocytoma samples identified somatic mutations in eighteen genes
involved in a variety of cellular functions. Sanger sequencing was then used to confirm the mutations identified, followed by further screening by Sanger in a cohort of additional renal oncocytoma samples to identify if the somatic mutations are recurrent. Modern high throughput and quantitative techniques have permitted further characterisation of these rare renal cancers and have enabled unique insights into their molecular genetics, findings that may hopefully be of clinical benefit in the future.

Type of Work:

Thesis (Doctorates > Ph.D.)

Award Type:

Doctorates > Ph.D.

Supervisor(s):