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BMC Cancer
Published in: BMC Cancer 1/2005

Open Access 01-12-2005 | Research article

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

Authors: Ella Thompson, Rebecca L Dragovic, Sally-Anne Stephenson, Diana M Eccles, Ian G Campbell, Alexander Dobrovic

Published in: BMC Cancer | Issue 1/2005

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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 non-significant 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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Metadata
Title
A novel duplication polymorphism in the FANCApromoter and its association with breast and ovarian cancer
Authors
Ella Thompson
Rebecca L Dragovic
Sally-Anne Stephenson
Diana M Eccles
Ian G Campbell
Alexander Dobrovic
Publication date
01-12-2005
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2005
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/1471-2407-5-43

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