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https://hdl.handle.net/2440/7093
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DC Field | Value | Language |
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dc.contributor.author | Wang, W. | - |
dc.contributor.author | Spurdle, A. | - |
dc.contributor.author | Kolachana, P. | - |
dc.contributor.author | Bove, B. | - |
dc.contributor.author | Modan, B. | - |
dc.contributor.author | Ebbers, S. | - |
dc.contributor.author | Suthers, G. | - |
dc.contributor.author | Tucker, M. | - |
dc.contributor.author | Kaufman, D. | - |
dc.contributor.author | Doody, M. | - |
dc.contributor.author | Tarone, R. | - |
dc.contributor.author | Daly, M. | - |
dc.contributor.author | Levavi, H. | - |
dc.contributor.author | Pierce, H. | - |
dc.contributor.author | Chetrit, A. | - |
dc.contributor.author | Yechezkel, G. | - |
dc.contributor.author | Chenevix-Trench, G. | - |
dc.contributor.author | Offit, K. | - |
dc.contributor.author | Godwin, A. | - |
dc.contributor.author | Struewing, J. | - |
dc.date.issued | 2001 | - |
dc.identifier.citation | Cancer Epidemiology, Biomarkers and Prevention, 2001; 10(9):955-960 | - |
dc.identifier.issn | 1055-9965 | - |
dc.identifier.issn | 1538-7755 | - |
dc.identifier.uri | http://hdl.handle.net/2440/7093 | - |
dc.description.abstract | RAD51 colocalizes with both BRCA1 and BRCA2, and genetic variants in RAD51 would be candidate BRCA1/2 modifiers. We searched for RAD51 polymorphisms by sequencing 20 individuals. We compared the polymorphism allele frequencies between female BRCA1/2 mutation carriers with and without breast or ovarian cancer and between population-based ovarian cancer cases with BRCA1/2 mutations to cases and controls without mutations. We discovered two single nucleotide polymorphisms (SNPs) at positions 135 g-->c and 172 g-->t of the 5' untranslated region. In an initial group of BRCA1/2 mutation carriers, 14 (21%) of 67 breast cancer cases carried a "c" allele at RAD51:135 g-->c, whereas 8 (7%) of 119 women without breast cancer carried this allele. In a second set of 466 mutation carriers from three centers, the association of RAD51:135 g-->c with breast cancer risk was not confirmed. Analyses restricted to the 216 BRCA2 mutation carriers, however, showed a statistically significant association of the 135 "c" allele with the risk of breast cancer (adjusted odds ratio, 3.2; 95% confidence limit, 1.4-40). BRCA1/2 mutation carriers with ovarian cancer were only about one half as likely to carry the RAD51:135 g-->c SNP. Analysis of the RAD51:135 g-->c SNP in 738 subjects from an Israeli ovarian cancer case-control study was consistent with a lower risk of ovarian cancer among BRCA1/2 mutation carriers with the "c" allele. We have identified a RAD51 5' untranslated region SNP that may be associated with an increased risk of breast cancer and a lower risk of ovarian cancer among BRCA2 mutation carriers. The biochemical basis of this risk modifier is currently unknown. | - |
dc.language.iso | en | - |
dc.publisher | Amer Assoc Cancer Research | - |
dc.subject | Humans | - |
dc.subject | Breast Neoplasms | - |
dc.subject | Ovarian Neoplasms | - |
dc.subject | Genetic Predisposition to Disease | - |
dc.subject | DNA-Binding Proteins | - |
dc.subject | Neoplasm Proteins | - |
dc.subject | BRCA1 Protein | - |
dc.subject | BRCA2 Protein | - |
dc.subject | Transcription Factors | - |
dc.subject | Case-Control Studies | - |
dc.subject | Polymorphism, Genetic | - |
dc.subject | Adult | - |
dc.subject | Aged | - |
dc.subject | Aged, 80 and over | - |
dc.subject | Middle Aged | - |
dc.subject | Jews | - |
dc.subject | United States | - |
dc.subject | Israel | - |
dc.subject | Australia | - |
dc.subject | Female | - |
dc.subject | Rad51 Recombinase | - |
dc.title | A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers | - |
dc.type | Journal article | - |
pubs.publication-status | Published | - |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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