Cancer incidence in relatives of British Fanconi Anaemia patients View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2008-12

AUTHORS

Marc Tischkowitz, Douglas F Easton, Jan Ball, Shirley V Hodgson, Christopher G Mathew

ABSTRACT

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. More... »

PAGES

257

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1471-2407-8-257

DOI

http://dx.doi.org/10.1186/1471-2407-8-257

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1034132207

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/18786261


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