Paul Andrew James

Cell-of-origin shapes tumor subtype in BRCA1-associated triple-negative breast cancer

This study identifies two cell-of-origin-driven subtypes of BRCA1-associated TNBC, showing that tumor subtype depends on the cell type initiating the cancer.

Expert Perspectives on Clinical Laboratory Accreditation for Polygenic Risk Scores

This study identifies key considerations for accrediting polygenic risk score testing through stakeholder consultations and proposes checklists for quality assessment.

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53

The paper identifies characteristics of TP53 variants with reduced penetrance using ClinVar data and a random forest model, finding they have intermediate function, higher frequency, and delayed disease onset.

An exploration of healthcare providers learning needs and strategies for engagement in Polygenic Risk education

This study identifies healthcare providers' learning needs and engagement strategies for Polygenic Risk Score education through focus groups and thematic analysis.

Integrating breast tumor homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification

This paper integrates tumor homologous recombination deficiency status with germline BRCA1 and BRCA2 variant classification to improve pathogenicity prediction.

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

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.

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.

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.

Development and evaluation of a novel educational program for providers on the use of polygenic risk scores

This paper evaluates an educational program for healthcare providers on polygenic risk scores, finding it improves their attitudes, confidence, knowledge, and preparedness for using PRS in clinical practice.

The genetic analysis of a founder Northern American population of European descent identifies FANCI as a candidate familial ovarian cancer risk gene

This paper identifies FANCI c.1813C>T as a candidate familial ovarian cancer risk allele in a French Canadian population with founder effects.

Genomic risk prediction for breast cancer in older women

This study evaluates a polygenic risk score for breast cancer in women aged 70 and older, finding it improves risk prediction beyond conventional factors.

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%.

Resilience to dominant genetic disease in the healthy elderly

The paper screens healthy elderly individuals to identify those resilient to genetic diseases despite high genetic risk, finding 141 individuals without associated disease despite pathogenic variants.

The Medical Genome Reference Bank: Whole genomes and phenotype of 2,570 healthy elderly

The paper introduces the Medical Genome Reference Bank, a resource of whole genome sequences and phenotypes from 2,570 healthy elderly Australians, showing fewer disease-associated variants and age-related somatic changes linked to grip strength.