In silico functional assessment of pleiotropic cancer risk loci (360G-Wellcome-211631_Z_18_Z)

Genome-wide association studies (GWAS) have identified greater than 450 common low-penetrance susceptibility single nucleotide polymorphisms (SNPs) for various cancers. Approximately one third of these SNPs map to genomic regions harbouring multiple cancer-SNP associations. This project aims to investigate the properties of "pleiotropic" cancer risk SNPs and derive insights into their effect on tumour development. We will initially extract all reported cancer risk-SNP associations with P -8 and use linkage disequilibrium metrics between risk SNPs at nearby genomic locations (e.g. within 1Mb) to determine if they represent distinct or shared association signals. Where available we will make use of tumour and normal tissue mutation, epigenomic, Hi-C and expression data to determine the likely molecular mechanism underlying cancer risk associations, for example regulating target gene expression. Combining all these analyses we aim to classify regions with multiple cancer associations as those exhibiting a) genuine pleiotropy, where the same association signal is shared by multiple cancer types; b) shared molecular mechanism but distinct disease-specific signals, suggestive of tissue-specific regulation; c) shared location by chance, where both disease-association signal and molecular mechanism appear distinct.

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Grant Details

Amount Awarded 0
Applicant Surname Atkins
Approval Committee Internal Decision Panel
Award Date 2018-05-31T00:00:00+00:00
Financial Year 2017/18
Grant Programme: Title Vacation Scholarships
Internal ID 211631/Z/18/Z
Lead Applicant Miss Isabelle Atkins
Partnership Value 0
Planned Dates: End Date 2018-09-01T00:00:00+00:00
Planned Dates: Start Date 2018-07-02T00:00:00+00:00
Recipient Org: Country United Kingdom
Region Greater London