RGD Reference Report - Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia. - Rat Genome Database

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Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia.

Authors: Barber, LM  McGrath, HE  Meyer, S  Will, AM  Birch, JM  Eden, OB  Taylor, GM 
Citation: Barber LM, etal., Br J Haematol. 2003 Apr;121(1):57-62.
RGD ID: 11046259
Pubmed: PMID:12670332   (View Abstract at PubMed)

The extent to which genetic susceptibility contributes to the causation of childhood acute myeloid leukaemia (AML) is not known. The inherited bone marrow failure disorder Fanconi anaemia (FA) carries a substantially increased risk of AML, raising the possibility that constitutional variation in the FA (FANC) genes is involved in the aetiology of childhood AML. We have screened genomic DNA extracted from remission blood samples of 97 children with sporadic AML and 91 children with sporadic acute lymphoblastic leukaemia (ALL), together with 104 cord blood DNA samples from newborn children, for variations in the Fanconi anaemia group C (FANCC) gene. We found no evidence of known FANCC pathogenic mutations in children with AML, ALL or in the cord blood samples. However, we detected 12 different FANCC sequence variants, of which five were novel to this study. Among six FANCC variants leading to amino-acid substitutions, one (S26F) was present at a fourfold greater frequency in children with AML than in the cord blood samples (odds ratio: 4.09, P = 0.047; 95% confidence interval 1.08-15.54). Our results thus do not exclude the possibility that this polymorphic variant contributes to the risk of a small proportion of childhood AML.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
acute myeloid leukemia susceptibilityIAGP 11046259DNA:polymorphism:cds:p.S26F (human)RGD 
acute myeloid leukemia susceptibilityISOFANCC (Homo sapiens)11046259; 11046259DNA:polymorphism:cds:p.S26F (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fancc  (FA complementation group C)

Genes (Mus musculus)
Fancc  (Fanconi anemia, complementation group C)

Genes (Homo sapiens)
FANCC  (FA complementation group C)


Additional Information