BACKGROUND: Fanconi anemia (FA) is an autosomal recessive DNA repair disorder 
with affected individuals having a high risk of developing acute myeloid 
leukaemia and certain solid tumours. Thirteen complementation groups have been 
identified and the genes for all of these are known (FANCA, B, C, D1/BRCA2, D2, 
E, F, G, I, J/BRIP1, L, M and N/PALB2). Previous studies of cancer incidence in 
relatives of Fanconi anemia cases have produced conflicting results. A study of 
British FA families was therefore carried out to investigate this question, 
since increases in cancer risk in FA heterozygotes would have implications for 
counselling FA family members, and possibly also for the implementation of 
preventative screening measures in FA heterozygotes.
METHODS: Thirty-six families took part and data was collected on 575 individuals 
(276 males, 299 females), representing 18,136 person years. In this cohort, 25 
males and 30 females were reported with cancer under the age of 85 years, and 36 
cancers (65%) could be confirmed from death certificates, cancer registries or 
clinical records.
RESULTS: A total of 55 cancers were reported in the FA families compared to an 
estimated incidence of 56.95 in a comparable general population cohort, and the 
relative risk of cancer was 0.97 (95% C.I. = 0.71-1.23, p = 0.62) for FA family 
members. Analysis of relative risk for individual cancer types in each carrier 
probability group did not reveal any significant differences with the possible 
exception of prostate cancer (RR = 3.089 (95% C.I. = 1.09 - 8.78; Chi2 = 4.767, 
p = 0.029).
CONCLUSION: This study has not shown a significant difference in overall cancer 
risk in FA families.