Analysis of the Fanconi anaemia complentation group A gene in acute myeloid leukemia

Alison Condie, Raymond L. Powles, Chantelle D. Hudson, Valerie Shepherd, Stephen Bevan, Martin R. Yuille, Richard S. Houlston

    Research output: Contribution to journalArticlepeer-review


    Acute myeloid leukaemia (AML) is the most common acute leukaemia in adults. Around 10-15% of individuals with recessively inherited Fanconi anaemia (FA) develop AML. FA is one of a group of recessive syndromes characterized by excessive spontaneous chromosomal breakage in which heterozygote carriers appear to display an increased risk of cancer and there is some indirect evidence that FA carriers may also be at increased risk of AML. This suggests that FA genes may play a role in the development of AML in the wider context. To examine this proposition, further, we have screened samples from 79 AML patients for mutations in the major FA gene, FANCA. No truncating FANCA mutations were detected. One missense mutation previously designated as pathogenic and five novel missense mutations causing non-conservative amino acid substitutions were detected. The data suggests that while FANCA mutations are rare, FANCA mutations may contribute to the development of the disease in a subset of AML.
    Original languageEnglish
    Pages (from-to)1849-1853
    Number of pages4
    JournalLeukemia and Lymphoma
    Issue number9
    Publication statusPublished - 2002


    • Acute myeloid leukemia
    • FANCA
    • Fanconi anaemia
    • Mutation


    Dive into the research topics of 'Analysis of the Fanconi anaemia complentation group A gene in acute myeloid leukemia'. Together they form a unique fingerprint.

    Cite this