title: Discussing and managing hematologic germ line variants.
abstract: With the introduction of genomic technologies, more hereditary cancer syndromes with hematologic malignancies are being described. Up to 10% of hematologic malignancies in children and adults may be the result of an underlying inherited genetic risk. Managing these patients with hereditary hematologic malignancies, including familial leukemia, remains a clinical challenge because there is little information about these relatively rare disorders. This article covers some of the issues related to the diagnosis and interpretation of variants associated with hereditary hematologic malignancies, including the importance of an accurate family history in interpreting genetic variants associated with disease. The challenges of screening other family members and offering the most appropriate early malignancy detection is also discussed. We now have a good opportunity to better define hereditary cancer syndromes with associated hematologic malignancies and contribute to clinically effective guidelines.
authors.affiliation: Family Cancer Assessment Clinic, Huntsman Cancer Institute, and.
authors.forename: Wendy
authors.initials: W
authors.lastname: Kohlmann
authors.affiliation: Family Cancer Assessment Clinic, Huntsman Cancer Institute, and.|Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Utah, Salt Lake City, UT.
authors.forename: Joshua D
authors.initials: JD
authors.lastname: Schiffman
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018095:Germ-Line Mutation; D019337:Hematologic Neoplasms / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics / Q000378:metabolism / Q000628:therapy