title: The cystic fibrosis delta F508 gene mutation and cancer.
abstract: Following the observation that relatives of cystic fibrosis (CF) patients have an increased mortality due to leukaemia, a study was initiated to determine whether leukaemia patients had an increased prevalence of the delta F508 CF mutation. No increase in carriers were found among leukaemias; however the carrier frequency of the delta F508 mutation appeared to be reduced in patients with malignant melanoma analysed as a control group compared to the normal population. This paper extends our previous study and investigates several other common human tumours, including those of the colon, breast, and lymphoma tissue. Fewer than expected carriers remained among the melanoma group from South Wales. There were fewer than expected carriers among patients with colon cancer compared to the normal population. The prevalence of the delta F508 mutation was normal in lymphomas and leukaemias.
authors.affiliation: Department of Haematology, University of Wales College of Medicine, Cardiff, UK.
authors.forename: R A
authors.initials: RA
authors.lastname: Padua
authors.forename: N
authors.initials: N
authors.lastname: Warren
authors.forename: D
authors.initials: D
authors.lastname: Grimshaw
authors.forename: M
authors.initials: M
authors.lastname: Smith
authors.forename: C
authors.initials: C
authors.lastname: Lewis
authors.forename: J
authors.initials: J
authors.lastname: Whittaker
authors.forename: P
authors.initials: P
authors.lastname: Laidler
authors.forename: P
authors.initials: P
authors.lastname: Wright
authors.forename: A
authors.initials: A
authors.lastname: Douglas-Jones
authors.forename: P
authors.initials: P
authors.lastname: Fenaux
authors.forename: A
authors.initials: A
authors.lastname: Sharma
authors.forename: K
authors.initials: K
authors.lastname: Horgan
authors.forename: R
authors.initials: R
authors.lastname: West
mesh_terms: D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics; D003110:Colonic Neoplasms / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D006579:Heterozygote; D006801:Humans; D007938:Leukemia / Q000235:genetics*; D008223:Lymphoma / Q000235:genetics; D008545:Melanoma / Q000235:genetics; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D014852:Wales
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator