David E. Goldgar

When Two plus Four Does Not Equal Six: Combining Computational and Functional Evidence to Classify BRCA1 Key Domain Missense Substitutions.

The paper evaluates the performance of functional assays and computational tools in classifying BRCA1 missense variants using a Bayesian framework and empirical validation.

Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population

This study evaluates breast cancer risks associated with pathogenic variant type and location in BRCA2 and other genes, finding differential risks based on variant position.

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.

Mutation prevalence tables for hereditary cancer derived from multi-gene panel testing

The paper develops a tool to estimate mutation prevalence in hereditary cancer genes based on clinical and demographic factors using data from 150,000 multi-gene panel tests.

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.

Universal Panel Testing of Pancreatic Cancer Cases for Cancer Predisposition

This study tests pancreatic cancer cases for germline variants in HBOC and CRC genes, finding 8.9% and 10.5% of cases carry variants with potential clinical significance.