Phuong L. Mai

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.

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.

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%.

A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome

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.

Risk of differential cancer types over age in families with Li-Fraumeni syndrome: a validation study using multi-center cohorts

The paper estimates cancer-specific penetrance in Li-Fraumeni syndrome using a statistical model and validates it across multiple cohorts, showing age-dependent risk patterns for different cancer types.