Cristina Fortuño

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.

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

The paper analyzes TP53 minigenes to show that splicing regulatory elements and their disruption by variants affect splicing outcomes, with deletions having stronger impacts than SNVs.

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

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.

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