Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/17508
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Type: Journal article
Title: A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer
Author: Thompson, E.
Dragovic, R.
Stephenson, S.
Eccles, D.
Campbell, I.
Dobrovic, A.
Citation: BMC Cancer, 2005; 5(43):1-6
Publisher: BioMed Central Ltd.
Issue Date: 2005
ISSN: 1471-2407
1471-2407
Statement of
Responsibility: 
Ella Thompson, Rebecca L Dragovic, Sally-Anne Stephenson, Diana M Eccles, Ian G Campbell and Alexander Dobrovic
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.
Keywords: Humans
Breast Neoplasms
Ovarian Neoplasms
Genetic Predisposition to Disease
Risk
Gene Duplication
Genotype
Polymorphism, Genetic
Polymorphism, Single-Stranded Conformational
Alleles
Models, Genetic
Adult
Aged
Middle Aged
Female
Fanconi Anemia Complementation Group A Protein
Promoter Regions, Genetic
Genetic Variation
Description: The electronic version of this article is the complete one and can be found online at: http://www.biomedcentral.com/1471-2407/5/43
Rights: © 2005 Thompson et al; licensee BioMed Central Ltd. 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.
DOI: 10.1186/1471-2407-5-43
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