John Llewelyn Hopper

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications

The paper shows adenomas from individuals with biallelic MUTYH or NTHL1 variants have mutational signatures similar to CRCs, suggesting adenomas can be used for variant classification and cancer prevention.

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk

This study identifies seven novel genetic loci associated with high-grade serous ovarian cancer risk using a large-scale GWAS and develops polygenic scores for improved risk prediction.

Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction

This study examines differences in polygenic risk score distributions across European populations and shows how country-specific calibration can improve breast cancer risk prediction.

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome

This study resolves the etiology of suspected Lynch syndrome tumors by analyzing somatic and germline mutations, methylation, and immunohistochemistry in 137 tumors, identifying key causes of DNA mismatch repair deficiency.

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.

Evaluating multiple next-generation sequencing derived tumor features to accurately predict DNA mismatch repair status

The paper evaluates multiple next-generation sequencing features to predict DNA mismatch repair status in tumors, finding that combining features improves accuracy across different cancer types.

Segregation analysis of 17,425 population-based breast cancer families: evidence for genetic susceptibility and risk prediction

This study analyzes 17,425 breast cancer families to assess genetic factors contributing to familial risk, finding a recessive risk component and polygenic factors explain residual familial variance.

Common variants in breast cancer risk loci predispose to distinct tumor subtypes

The paper identifies breast cancer risk variants associated with tumor subtypes and shows their differential effects on luminal and non-luminal subtypes.

Ability of known colorectal cancer susceptibility SNPs to predict colorectal cancer risk: A cohort study within the UK Biobank

This study evaluates how adding polygenic risk scores to family history improves colorectal cancer risk prediction in the UK Biobank cohort.

Rare copy number variants (CNVs) and breast cancer risk

The paper analyzes rare copy number variants (CNVs) in breast cancer cases and controls, identifying associations with known and novel susceptibility loci.

Within-sibship GWAS improve estimates of direct genetic effects

In 159,701 siblings from 17 cohorts, population GWAS overstate direct effects on height, education, smoking, cognition, depressive symptoms and age at first birth; clinical traits mostly agree across models.

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.

Germline and Tumor Whole Genome Sequencing as a Diagnostic Tool to Resolve Suspected Lynch Syndrome

This study uses germline and tumor whole genome sequencing to identify the cause of mismatch repair deficiency in suspected Lynch syndrome cases, finding that most cases are due to somatic mutations rather than inherited variants.

Causes of variation in epigenetic aging across the lifespan

This study investigates the causes of variation in DNA methylation age across the lifespan, finding that environmental factors, particularly shared ones, are the main drivers.

Within-family studies for Mendelian randomization: avoiding dynastic, assortative mating, and population stratification biases

This paper introduces within-family Mendelian randomization methods to reduce biases from family structure and shows they yield different results compared to population-based analyses.

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.