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Cancer incidence in relatives of British Fanconi Anaemia patients.

Tischkowitz, M; Easton, DF; Ball, J; Hodgson, SV; Mathew, CG (2008) Cancer incidence in relatives of British Fanconi Anaemia patients. BMC CANCER, 8 (257). ISSN 1471-2407
SGUL Authors: Hodgson, Shirley Victoria

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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.

Item Type: Article
Additional Information: PubMed ID: 18786261 © 2008 Tischkowitz et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: Adult, Aged, Cohort Studies, Family Health, Fanconi Anemia, Female, Genetic Predisposition to Disease, Great Britain, Humans, Incidence, Male, Middle Aged, Neoplasms, Science & Technology, Life Sciences & Biomedicine, Oncology, ATAXIA-TELANGIECTASIA, SUSCEPTIBILITY, PREDISPOSITION, HETEROZYGOTES, MUTATIONS, GENES
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS)
Journal or Publication Title: BMC CANCER
ISSN: 1471-2407
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11 September 2008Published
Web of Science ID: WOS:000259746900001
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