Genetic counseling for DAPK1 mutation in a chronic lymphocytic leukemia family

Genetic counseling has become the clinical bedrock of hereditary cancer management. Countless advances in molecular geneties contributing to the identification of cancer-causing germline mutations have increased its importance. We report a unique genetic counseling experience involving, a family with hereditary chronic lymphocytic leukemia and the cancer-causing mutation in the death-associated protein kinase 1 gene (DAPK1). This hereditary disorder currently lacks any preventive or curative interventions for mutation carriers. This family has been under out investigation for a decade, during which time genealogy, cancer of all anatomic sites, medical and pathology records, and, whenever possible, slides and tissue blocks were reviewed. Family attendance at three group-oriented family information service sessions provided intensive education about this disease. Blood and skin fibroblasts were obtained for molecular genetic studies of DNA leading to the discovery of the DAPK1 mutation in the family. Their intellectual and emotional reaction to its presence or absence in them was assessed. This family serves as a model for genetic counseling in disorders for which lifesaving intervention is not yet possible. (C) 2008 Elsevier Inc. All rights reserved.