Collaborator: Hereditary Cancer Program, Northside Hospital Cancer Institute

• Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer

  Abstract Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive hereditary cancer condition, characterized by an exceptionally high risk of cancer, a propensity for childhood malignancies, and cutaneous features reminiscent of neurofibromatosis type 1 (NF1). We report on two sisters originally suspected of having CMMRD syndrome due to their history of colonic polyps…