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

A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer
A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer
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.
1471-2407
Thompson, Ella
f827fbf5-89b2-42b8-a1e8-1fd0f08692a4
Dragovic, Rebecca L.
6038da7d-7f91-49ab-9158-6f2a4bd0d1bf
Stephenson, Sally-Anne
7b4b5208-6968-4d65-ab06-bb732f64b363
Eccles, Diana M.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Campbell, Ian G.
681789cb-d416-4722-9ba8-449c7af96673
Dobrovic, Alexander
657f7eeb-ebd5-435d-be93-7b745ba26b51
Thompson, Ella
f827fbf5-89b2-42b8-a1e8-1fd0f08692a4
Dragovic, Rebecca L.
6038da7d-7f91-49ab-9158-6f2a4bd0d1bf
Stephenson, Sally-Anne
7b4b5208-6968-4d65-ab06-bb732f64b363
Eccles, Diana M.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Campbell, Ian G.
681789cb-d416-4722-9ba8-449c7af96673
Dobrovic, Alexander
657f7eeb-ebd5-435d-be93-7b745ba26b51

Thompson, Ella, Dragovic, Rebecca L., Stephenson, Sally-Anne, Eccles, Diana M., Campbell, Ian G. and Dobrovic, Alexander (2005) A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer. BMC cancer, 5 (1). (doi:10.1186/1471-2407-5-43).

Record type: Article

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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Published date: 2005

Identifiers

Local EPrints ID: 26638
URI: http://eprints.soton.ac.uk/id/eprint/26638
ISSN: 1471-2407
PURE UUID: 7edd06fa-c1b0-4a24-ba6a-092eb76fd324
ORCID for Diana M. Eccles: ORCID iD orcid.org/0000-0002-9935-3169

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Date deposited: 10 Apr 2006
Last modified: 16 Mar 2024 02:39

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Contributors

Author: Ella Thompson
Author: Rebecca L. Dragovic
Author: Sally-Anne Stephenson
Author: Diana M. Eccles ORCID iD
Author: Ian G. Campbell
Author: Alexander Dobrovic

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