Collaborator: Chapel Allerton Hospital

• Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

• 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…