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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
Statement of
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
Gene Duplication
Polymorphism, Genetic
Polymorphism, Single-Stranded Conformational
Models, Genetic
Middle Aged
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:
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 (, 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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