Judy Ellen Garber

This study shows that p53 variants with R181 mutations retain mitochondrial apoptosis function but lose DNA binding cooperativity, leading to reduced cancer risk.

The paper identifies polygenic risk factors and rare variants in unexplained familial cancers using whole genome sequencing and family history data.

This study examines if disclosing polygenic risk scores reduces decisional conflict in BRCA1/2 carriers considering risk-reducing mastectomy, finding decreased conflict and moderation by tolerance for ambiguity.

The paper analyzes copy number alterations in breast epithelial cells from BRCA mutation carriers and wildtype individuals, finding lineage-specific CNAs that mirror cancer genomes.

This paper evaluates computational methods to infer germline vs. somatic variants from tumor-only sequencing data using 1,608 patients and compares results to germline testing.

The paper identifies TERT rare variants in MDS patients, showing shorter telomeres, younger age at diagnosis, and worse survival, suggesting their role in MDS pathogenesis and transplant outcomes.

The paper introduces Famdenovo, a model to predict de novo mutations in families with Li-Fraumeni syndrome, identifying 40 new carriers and showing high prediction accuracy.

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