Shared genomic segment analysis in a large high-risk chronic lymphocytic leukemia pedigree implicates CXCR4 in inherited risk.
Julie E FeusierMichael J MadsenBrian J AveryJustin A WilliamsDeborah M StephensBoyu HuAfaf E G OsmanMartha J GlennNicola J CampPublished in: Journal of translational genetics and genomics (2021)
SGS analysis of an extended high-risk CLL pedigree identified the most significant evidence to-date for a 0.9 Mb CLL disease locus at 2q22.1, harboring CXCR4. This discovery contributes to a growing literature implicating CXCR4 in inherited risk to CLL. Investigation of the segregating haplotype in the pedigree will be valuable for elucidating risk variant(s).