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A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer

Thompson, Ella, Dragovic, Rebecca, Stephenson, Sally-Anne, Eccles, Diana, Campbell, Ian , & Dobrovic, Alexander (2005) A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer. BMC Cancer, 5(43), pp. 1-6.

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Abstract

The FANCA gene is one of the genes in which mutations lead to Fanconi anaemia, a rare autosomal recessive disorder characterised by congenital abnormalities, bone marrow failure, and predisposition to malignancy. FANCA is also a potential breast and ovarian cancer susceptibility gene. A novel allele was identified which has a tandem duplication of a 13 base pair sequence in the promoter region. Methods: We screened germline DNA from 352 breast cancer patients, 390 ovarian cancer patients and 256 normal controls to determine if the presence of either of these two alleles was associated with an increased risk of breast or ovarian cancer. Results: The duplication allele had a frequency of 0.34 in the normal controls. There was a nonsignificant decrease in the frequency of the duplication allele in breast cancer patients. The frequency of the duplication allele was significantly decreased in ovarian cancer patients. However, when malignant and benign tumours were considered separately, the decrease was only significant in benign tumours. Conclusion: The allele with the tandem duplication does not appear to modify breast cancer risk but may act as a low penetrance protective allele for ovarian cancer.

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10 citations in Web of Science®

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ID Code: 48350
Item Type: Journal Article
Keywords: breast cancer, DNA polymorphism, ovary cancer
DOI: 10.1186/1471-2407-5-43
ISSN: 1471-2407
Subjects: Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > ONCOLOGY AND CARCINOGENESIS (111200)
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2005 Thompson et al; licensee BioMed Central Ltd.
Copyright Statement: This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Deposited On: 31 Jan 2012 22:58
Last Modified: 29 Feb 2012 14:37

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