Collaborator: Lund University

• Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

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

• Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

• BRCA1 frameshift variants leading to extended incorrect protein termini

  April 2, 2026

• Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

  Abstract Purpose To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. Methods We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis was used…