Uniparental Disomy and Copy Number Variations in BHD-RCCs

A new report from Iribe et al. (2016) describes the results of a high-density, genome-wide, SNP array on various subtypes of BHD-associated renal tumour. Only 2/6 chromophobe RCC and the two clear cell RCC samples showed variation in chromosomal copy number. However all the tumours, regardless of subtype, had various areas of loss of heterogeneity (LOH) mostly due to uniparental disomy (UPD). UPD is not typically high in sporadic tumours and therefore the common sections identified could be cytogenetic markers of BHD.


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