title: Chromosomal imbalances in familial chronic lymphocytic leukaemia: a comparative genomic hybridisation analysis.
abstract: A subset of B cell chronic lymphocytic leukaemia (CLL) is familial. Lack of large families makes it attractive to exploit methods in addition to genetic linkage analysis for the identification of a susceptibility locus. One strategy that can localise regions of the genome that may harbour tumour suppressor genes is to identify regions of chromosomal imbalance using comparative genomic hybridisation (CGH) analysis. We examined 24 familial CLL cases by CGH analysis. Losses that are documented as arising frequently in sporadic CLL were observed at a comparable frequency in familial CLL. However, gains and losses in two regions of the X chromosome - Xp11.2-p21 and Xq21-qter - appear more common in familial CLL than in sporadic CLL. This suggests these regions may harbour a susceptibility locus for CLL. There is also some evidence that chromosome regions 2p12-p14 and 4q11-q21 may harbour predisposition genes.
authors.affiliation: UK Co-ordinating Centre for the Study of Familial Chronic Lymphocytic Leukaemia, Section of Molecular Carcinogenesis, Institute of Cancer Research, Sutton, UK.
authors.forename: B
authors.initials: B
authors.lastname: Summersgill
authors.forename: P
authors.initials: P
authors.lastname: Thornton
authors.forename: S
authors.initials: S
authors.lastname: Atkinson
authors.forename: E
authors.initials: E
authors.lastname: Matutes
authors.forename: J
authors.initials: J
authors.lastname: Shipley
authors.forename: D
authors.initials: D
authors.lastname: Catovsky
authors.forename: R S
authors.initials: RS
authors.lastname: Houlston
authors.forename: M R
authors.initials: MR
authors.lastname: Yuille
mesh_terms: D002869:Chromosome Aberrations; D002889:Chromosomes, Human, Pair 2; D002894:Chromosomes, Human, Pair 4; D005260:Female; D016147:Genes, Tumor Suppressor; D020022:Genetic Predisposition to Disease; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008297:Male; D009693:Nucleic Acid Hybridization; D014960:X Chromosome