Source:http://linkedlifedata.com/resource/pubmed/id/11535547
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
9
|
| pubmed:dateCreated |
2001-9-5
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/BRCA1 Protein,
http://linkedlifedata.com/resource/pubmed/chemical/BRCA2 Protein,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Neoplasm Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/RAD51 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Rad51 Recombinase,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Sep
|
| pubmed:issn |
1055-9965
|
| pubmed:author |
pubmed-author:BovaFF,
pubmed-author:Chenevix-TrenchGG,
pubmed-author:ChetritAA,
pubmed-author:DalyMM,
pubmed-author:DoodyM MMM,
pubmed-author:EbbersS MSM,
pubmed-author:GodwinA KAK,
pubmed-author:KaufmanD JDJ,
pubmed-author:KolachanaPP,
pubmed-author:LevaviHH,
pubmed-author:ModanBB,
pubmed-author:OffitKK,
pubmed-author:PierceHH,
pubmed-author:SpurdleA BAB,
pubmed-author:StruewingJ PJP,
pubmed-author:SuthersGG,
pubmed-author:TaroneR ERE,
pubmed-author:TuckerM AMA,
pubmed-author:WangW WWW,
pubmed-author:YechezkelG HGH
|
| pubmed:issnType |
Print
|
| pubmed:volume |
10
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
955-60
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:11535547-Adult,
pubmed-meshheading:11535547-Aged,
pubmed-meshheading:11535547-Aged, 80 and over,
pubmed-meshheading:11535547-Australia,
pubmed-meshheading:11535547-BRCA1 Protein,
pubmed-meshheading:11535547-BRCA2 Protein,
pubmed-meshheading:11535547-Breast Neoplasms,
pubmed-meshheading:11535547-Case-Control Studies,
pubmed-meshheading:11535547-DNA-Binding Proteins,
pubmed-meshheading:11535547-Female,
pubmed-meshheading:11535547-Genetic Predisposition to Disease,
pubmed-meshheading:11535547-Humans,
pubmed-meshheading:11535547-Israel,
pubmed-meshheading:11535547-Jews,
pubmed-meshheading:11535547-Middle Aged,
pubmed-meshheading:11535547-Neoplasm Proteins,
pubmed-meshheading:11535547-Ovarian Neoplasms,
pubmed-meshheading:11535547-Polymorphism, Genetic,
pubmed-meshheading:11535547-Rad51 Recombinase,
pubmed-meshheading:11535547-Transcription Factors,
pubmed-meshheading:11535547-United States
|
| pubmed:year |
2001
|
| pubmed:articleTitle |
A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers.
|
| pubmed:affiliation |
Laboratory of Population Genetics, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Multicenter Study
|