Journal article
Variation in the RAD51 gene and familial breast cancer
Breast Cancer Research, Vol.8(3), R26
2006
Abstract
Introduction Human RAD51 is a homologue of the Escherichia coli RecA protein and is known to function in recombinational repair of double-stranded DNA breaks. Mutations in the lower eukaryotic homologues of RAD51 result in a deficiency in the repair of double-stranded DNA breaks. Loss of RAD51 function would therefore be expected to result in an elevated mutation rate, leading to accumulation of DNA damage and, hence, to increased cancer risk. RAD51 interacts directly or indirectly with a number of proteins implicated in breast cancer, such as BRCA1 and BRCA2. Similar to BRCA1 mice, RAD51-/- mice are embryonic lethal. The RAD51 gene region has been shown to exhibit loss of heterozygosity in breast tumours, and deregulated RAD51 expression in breast cancer patients has also been reported. Few studies have investigated the role of coding region variation in the RAD51 gene in familial breast cancer, with only one coding region variant - exon 6 c.449G>A (p.R150Q) - reported to date. Methods: All nine coding exons of the RAD51 gene were analysed for variation in 46 well-characterised, BRCA1/2-negative breast cancer families using denaturing high-performance liquid chromatography. Genotyping of the exon 6 p.R150Q variant was performed in an additional 66 families. Additionally, lymphoblastoid cell lines from breast cancer patients were subjected to single nucleotide primer extension analysis to assess RAD51 expression. Results: No coding region variation was found, and all intronic variation detected was either found in unaffected controls or was unlikely to have functional consequences. Single nucleotide primer extension analysis did not reveal any allele-specific changes in RAD51 expression in all lymphoblastoid cell lines tested. Conclusion: Our study indicates that RAD51 is not a major familial breast cancer predisposition gene. © 2006 Lose et al.; licensee BioMed Central Ltd.
Details
- Title
- Variation in the RAD51 gene and familial breast cancer
- Authors
- Felicity Lose (Author) - Queensland Institute of Medical ResearchP Lovelock (Author) - Queensland Institute of Medical ResearchG Chenevix-Trench (Author) - Queensland Institute of Medical ResearchG J Mann (Author) - University of SydneyG M Pupo (Author) - University of SydneyA B Spurdle (Author) - Queensland Institute of Medical Research
- Publication details
- Breast Cancer Research, Vol.8(3), R26
- Publisher
- BioMed Central Ltd.
- Date published
- 2006
- DOI
- 10.1186/bcr1415
- ISSN
- 1465-542X
- Copyright note
- Copyright © 2006 The Authors. This article is online at: http://breast-cancer-research.com/content/8/3/R26 © 2006 Lose 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.
- Organisation Unit
- University of the Sunshine Coast, Queensland; Office of Research
- Language
- English
- Record Identifier
- 99451141702621
- Output Type
- Journal article
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