Germline mutations and polymorphisms in the NFKB1A gene in Hodgkin lymphoma

Julie Osborne, Annette Lake, Freda E. Alexander, G. Malcolm Taylor, Ruth F. Jarrett

    Research output: Contribution to journalArticlepeer-review


    Somatic inactivation of NFKBIA, the gene encoding IκBα, is a frequent occurrence in the malignant Hodgkin and Reed-Sternberg (HRS) cells of Hodgkin lymphoma (HL). Impairment of IκBα function results in deregulated NF-κB activity, a characteristic of HRS cells. The molecular basis for familial HL, which accounts for approximately 4% of all HL cases, is unclear. To date, familial HL cases have not been evaluated for germline NFKBIA mutations. We screened the entire NFKBIA gene in 8 individuals with familial HL but found no mutations in the coding region or promoter sequences. We identified the first germline NFKBIA missense mutation in a patient with presumed sporadic HL. The frequency of 4 polymorphisms within the NFKBIA gene and promoter region was investigated in a series of HL and control samples; no significant differences emerged but a novel polymorphism was identified in the promoter region. Overall, our results suggest that germline mutations of NFKBIA are not a significant cause of familial aggregation of HL but may contribute to inherited susceptibility to HL. © 2005 Wiley-Liss, Inc.
    Original languageEnglish
    Pages (from-to)646-651
    Number of pages5
    JournalInternational Journal of Cancer
    Issue number4
    Publication statusPublished - 10 Sept 2005


    • Familial Hodgkin lymphoma
    • Germline
    • Mutation
    • NFKBIA


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