Collaborator: Hospital Clínico San Carlos

• Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

• Integration of Protein Stability and Alpha Missense Scores Improves Bioinformatic Impact Prediction for p53 Missense and In-Frame Amino Acid Deletion Variants

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

• Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

• Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

  Abstract Background PALB2 monoallelic loss-of-function germ-line variants confer a breast cancer risk comparable to the average BRCA2 pathogenic variant. Recommendations for risk reduction strategies in carriers are similar. Elaborating robust criteria to identify loss-of-function variants in PALB2—without incurring overprediction—is thus of paramount clinical relevance. Towards this aim, we have performed a comprehensive characterisation of alternative splicing in PALB2, analysing its relevance for the classification…