title: Analysis of the Fanconi anaemia complementation group A gene in acute myeloid leukaemia.
abstract: 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.
authors.affiliation: Academic Department of Hematology and Cytogenetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG UK.
authors.forename: Alison
authors.initials: A
authors.lastname: Condie
authors.forename: Raymond L
authors.initials: RL
authors.lastname: Powles
authors.forename: Chantelle D
authors.initials: CD
authors.lastname: Hudson
authors.forename: Valerie
authors.initials: V
authors.lastname: Shepherd
authors.forename: Stephen
authors.initials: S
authors.lastname: Bevan
authors.forename: Martin R
authors.initials: MR
authors.lastname: Yuille
authors.forename: Richard S
authors.initials: RS
authors.lastname: Houlston
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004268:DNA-Binding Proteins; D005091:Exons; D005199:Fanconi Anemia / Q000235:genetics*; D052217:Fanconi Anemia Complementation Group A Protein; D005808:Genes, Recessive; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D011506:Proteins / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; C498471:FANCA protein, human; D052217:Fanconi Anemia Complementation Group A Protein; D011506:Proteins