Collaborator: Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital

• Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

• Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

• 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…