David Timothy Bishop

Melanoma germline genetics: immune, cancer driver, and Wnt signaling genes

This paper identifies 116 risk loci for melanoma through GWAS, links susceptibility to immunity and Wnt signaling, and develops a PRS improving risk prediction.

A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma

This study conducts a large-scale GWAS meta-analysis of nevus count, identifying 29 new loci and highlighting immune-related pathways relevant to melanoma risk.

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as modulating risk for melanoma and nevi via RAS activation

This study identifies RAPGEF1 as a gene modulating melanoma and nevi risk through RAS activation, using fine-mapping, expression data, and functional assays.

Germline haploinsufficiency for the base excision repair gene MUTYH causes mutational signature SBS18 in multiple tumour types, specifically leading to an increased risk of colorectal cancer

This study shows that germline MUTYH haploinsufficiency increases mutational signature SBS18 and CRC risk, but not other cancers, due to oxidative DNA damage in the colorectum.

The microenvironment of ulcerated acral melanoma is characterised by an inflammatory milieu and an enhanced humoral immune response

This study identifies immunological differences in ulcerated acral melanoma, showing increased humoral immunity and inflammation markers, and proposes potential therapeutic targets.

Ancestry and somatic profile predict acral melanoma origin and prognosis

This study analyzes acral melanoma genomes and transcriptomes from Mexican patients, finding ancestry-related mutation patterns and survival differences.

Combining Asian-European Genome-Wide Association Studies of Colorectal Cancer Improves Risk Prediction Across Race and Ethnicity

This study improves polygenic risk scores for colorectal cancer by combining Asian and European ancestry data, enhancing risk prediction across diverse racial and ethnic groups.

Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohort

The paper analyzes POT1 variants in a melanoma case-control cohort, finding that pathogenic variants are a minor contributor to melanoma risk but should be screened in high-risk individuals.

Cell type-specific meQTL extends melanoma GWAS annotation beyond eQTL and informs melanocyte gene regulatory mechanisms

The paper identifies cell-type-specific meQTLs in melanocytes and melanomas, enhancing GWAS annotation and revealing regulatory mechanisms involving IRF4.

Genetic architectures of proximal and distal colorectal cancer are partly distinct

This study identifies 13 new genetic loci specific to proximal or distal colorectal cancer subtypes, revealing partly distinct genetic architectures for these tumor locations.

Tumour gene expression signature in primary melanoma predicts long-term outcomes: A prospective multicentre study

This paper develops a gene expression signature, Cam_121, to predict long-term outcomes in primary melanoma patients, showing improved accuracy compared to clinical and existing prognostic models.

Assessment of Polygenic Architecture and Risk Prediction based on Common Variants Across Fourteen Cancers

This study assesses polygenicity and risk prediction using common variants across 14 cancers, finding varying numbers of susceptibility variants and risk score effectiveness.

Physical activity and risks of breast and colorectal cancer: A Mendelian randomization analysis

This study uses Mendelian randomization to show that higher physical activity levels are associated with lower risks of breast and colorectal cancer.

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

This paper identifies novel pleiotropic risk loci for melanoma and nevus density, implicating multiple biological pathways and gene expression under MITF regulation.

Cell-type specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes

The paper identifies cell-type specific eQTLs in primary melanocytes, revealing novel melanoma susceptibility genes and associations with GWAS loci.