NDLI: Cancer incidence in relatives of British Fanconi Anaemia patients

Content Provider	Springer Nature : BioMed Central
Author	Tischkowitz, Marc Easton, Douglas F Ball, Jan Hodgson, Shirley V Mathew, Christopher G
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; Χ2 = 4.767, p = 0.029). Conclusion This study has not shown a significant difference in overall cancer risk in FA families.
Related Links	https://bmccancer.biomedcentral.com/counter/pdf/10.1186/1471-2407-8-257.pdf
Ending Page	5
Page Count	5
Starting Page	1
File Format	HTM / HTML
ISSN	14712407
DOI	10.1186/1471-2407-8-257
Journal	BMC Cancer
Issue Number	1
Volume Number	8
Language	English
Publisher	BioMed Central
Publisher Date	2008-09-11
Access Restriction	Open
Subject Keyword	Cancer Research Oncology Surgical Oncology Health Promotion and Disease Prevention Biomedicine Medicine Public Health Prostate Cancer Acute Myeloid Leukaemia Fanconi Anemia BRCA2 Carrier Fanconi Anemia Patient Medicine/Public Health
Content Type	Text
Resource Type	Article
Subject	Cancer Research Oncology Genetics
Journal Impact Factor	3.4/2023
5-Year Journal Impact Factor	3.8/2023

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