D. Gareth Evans

PRANA: A Deep Learning Method for Adapting Polygenic Risk Scores to Diverse Ethnic Groups

PRANA adapts polygenic risk scores to non-European populations, improving predictive accuracy by 5%-20% in South Asian, East Asian, and Ashkenazi Jewish populations.

Routine germline genetic testing in 3552 unselected NHS breast cancer patients: Evidence informing testing criteria and implementation of a 'BRCA-DIRECT' mainstreaming pathway

This paper evaluates a streamlined germline genetic testing pathway for breast cancer patients, showing high satisfaction and feasibility while highlighting the need for simplified criteria to improve detection of pathogenic variants.

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.

Breast cancer multigene germline panel testing in mainstream oncology based on clinical-public health utility (cancer mortality benefit): ESMO Precision Oncology Working Group recommendations

The paper recommends a standardized multigene germline panel for breast cancer patients based on cancer mortality benefit, including specific genes and excluding others.

Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

The paper develops a framework for classifying variants of reduced penetrance in cancer susceptibility genes to improve variant interpretation consistency.

BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial

This study compares digital and in-person genetic counseling for germline testing in breast cancer patients, finding higher uptake with digital information without compromising other outcomes.

High-Dimensional Imaging of Vestibular Schwannoma Reveals Distinctive Immunological Networks Across Histomorphic Niches in NF2-related Schwannomatosis

This study uses imaging mass cytometry to analyze spatial immunological differences in vestibular schwannomas from NF2 SWN patients, revealing niche-dependent T-cell regulation.

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 targeted, low-throughput compound screen in a Drosophila model of Neurofibromatosis Type 1 identifies simvastatin and BMS-204352 as potential therapies for autism spectrum disorder (ASD).

This study identifies simvastatin and BMS-204352 as potential ASD therapies in a Drosophila Nf1 model by reducing tactile hypersensitivity and synaptic transmission defects.

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupre-Christol syndrome, an inherited basal cell carcinoma susceptibility condition

The paper identifies intergenic duplications at Xq26.1 as the genetic cause of Bazex-Dupre-Christol syndrome, linking them to ARHGAP36 dysregulation and BCC susceptibility.

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

The paper assesses breast cancer risks linked to rare missense variants in five susceptibility genes using logistic and mixture models, finding varying risk contributions across genes.

Loss of NF1 causes tactile hypersensitivity and impaired synaptic transmission in a Drosophila model of autism spectrum disorder

This study shows that loss of NF1 in Drosophila causes tactile hypersensitivity and synaptic transmission deficits, similar to ASD features, and these effects are rescued by knocking down Ras proteins.

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.

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.

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

The paper specifies TP53-specific ACMG/AMP variant classification guidelines, reducing variants of uncertain significance from 28% to 12%.

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

The paper systematically studies uORF variants in 15,708 genomes, showing they are under strong negative selection and contribute to disease.

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

This study identifies 32 new breast cancer susceptibility loci through GWAS, with associations varying by tumor subtype and genetic correlations among subtypes.

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

This study fine-maps 150 breast cancer risk regions to identify 178 high confidence target genes using genomic and functional annotations.

Shared heritability and functional enrichment across six solid cancers

This study quantifies genetic correlations between six solid cancers and other diseases using GWAS data, finding shared heritability and functional enrichment in regulatory regions.

Inherited BRCA1 epimutation as a novel cause of breast and ovarian cancer

The paper identifies inherited BRCA1 promoter hypermethylation as a novel cause of breast and ovarian cancer in two families without germline BRCA1/2 pathogenic variants.