Analysis of a large multi-generational family provides insight into the genetics of chronic lymphocytic leukemia
Authors: Fuller, Stephen J.1; Papaemmanuil, Elli2; McKinnon, Leah1; Webb, Emily2; Sellick, Gabrielle S.2; Dao-Ung, Lan-Phuong1; Skarratt, Kristen K.1; Crowther, Dalemari2; Houlston, Richard S.2; Wiley, James S.1
Source: British Journal of Haematology, Volume 142, Number 2, July 2008 , pp. 238-245(8)
Publisher: Blackwell Publishing
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Abstract:
Summary We report the genetic analysis of a large multi-generational family composed of 144 individuals in which 11 members have been diagnosed with chronic lymphocytic leukaemia (CLL). The observation of a significant over-representation of monoclonal B-cell lymphocytosis (MBL) in unaffected family members strongly supports MBL being a surrogate marker of carrier status. A genome-wide linkage scan of the family using high-density 10K single nucleotide polymorphisms provided no significant evidence for a single gene model of disease susceptibility, inviting speculation that susceptibility to CLL has a more complex basis. The absence of a correlation in IGHV usage between affected family members does however argue strongly against exposure to a single super-antigen in disease development.Keywords: chronic lymphocytic leukemia; familial; IGHV gene usage; mutation; genome-wide linkage analysis
Document Type: Research article
DOI: 10.1111/j.1365-2141.2008.07188.x
Affiliations: 1: Department of Medicine, The University of Sydney, Nepean Hospital, Penrith, New South Wales, Australia 2: Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
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