Linked Life Data

16121340

Source:http://linkedlifedata.com/resource/pubmed/id/16121340

Statements in which the resource exists.
SubjectPredicateObjectContext
pubmed-article:16121340rdf:typepubmed:Citationlld:pubmed
pubmed-article:16121340lifeskim:mentionsumls-concept:C0006142lld:lifeskim
pubmed-article:16121340lifeskim:mentionsumls-concept:C0337514lld:lifeskim
pubmed-article:16121340lifeskim:mentionsumls-concept:C0026882lld:lifeskim
pubmed-article:16121340lifeskim:mentionsumls-concept:C1413858lld:lifeskim
pubmed-article:16121340lifeskim:mentionsumls-concept:C1833334lld:lifeskim
pubmed-article:16121340pubmed:issue4lld:pubmed
pubmed-article:16121340pubmed:dateCreated2005-9-5lld:pubmed
pubmed-article:16121340pubmed:databankReferencehttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16121340pubmed:abstractTextThe hormonal etiology of breast cancer is well-established. Many studies have assessed whether polymorphisms in steroid hormone metabolism genes are associated with breast cancer risk. We measured the CYP17A1 -34T>C (c.-34T>C) promoter polymorphism in a population-based study of 1,404 Australian women with breast cancer diagnosed before age 60 years (case probands), 1,903 relatives, and 788 controls. Within-family analyses suggested the CC genotype was associated with, on average, a small increased risk. This finding appeared to be influenced by the families of three early-onset case probands with multiple affected sisters. CYP17A1 mutation screening revealed a case proband diagnosed at age 38 years who had a germline protein-truncating mutation (c.775C>T, p.Arg239X), which results in a nonfunctional enzyme and has been reported in a male compound heterozygote with 17 alpha-hydroxylase deficiency. This mutation was carried by both sisters diagnosed with breast cancer at ages 34 and 42 years, but not by a 57-year-old unaffected sister. It was not found in any of the other tested case probands (48 with multiple-affected relatives and 241 randomly selected) or controls. This study suggests there may be rare mutations in steroid hormone metabolism genes associated with a high dominantly-inherited breast cancer risk, and demonstrates how "high-risk susceptibility genes" might be discovered using population-based case-control-family studies.lld:pubmed
pubmed-article:16121340pubmed:granthttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16121340pubmed:languageenglld:pubmed
pubmed-article:16121340pubmed:journalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16121340pubmed:citationSubsetIMlld:pubmed
pubmed-article:16121340pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16121340pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16121340pubmed:statusMEDLINElld:pubmed
pubmed-article:16121340pubmed:monthOctlld:pubmed
pubmed-article:16121340pubmed:issn1098-1004lld:pubmed
pubmed-article:16121340pubmed:authorpubmed-author:HopperJohn...lld:pubmed
pubmed-article:16121340pubmed:authorpubmed-author:Chenevix-Tren...lld:pubmed
pubmed-article:16121340pubmed:authorpubmed-author:SpurdleAmanda...lld:pubmed
pubmed-article:16121340pubmed:authorpubmed-author:JenkinsMark...lld:pubmed
pubmed-article:16121340pubmed:authorpubmed-author:McCredieMarga...lld:pubmed
pubmed-article:16121340pubmed:authorpubmed-author:SoutheyMeliss...lld:pubmed
pubmed-article:16121340pubmed:authorpubmed-author:DiteGillian...lld:pubmed
pubmed-article:16121340pubmed:authorpubmed-author:GilesGraham...lld:pubmed
pubmed-article:16121340pubmed:authorpubmed-author:HayesVanessa...lld:pubmed
pubmed-article:16121340pubmed:authorpubmed-author:MilneRoger...lld:pubmed
pubmed-article:16121340pubmed:authorpubmed-author:TesorieroAndr...lld:pubmed
pubmed-article:16121340pubmed:copyrightInfo(c) 2005 Wiley-Liss, Inc.lld:pubmed
pubmed-article:16121340pubmed:issnTypeElectroniclld:pubmed
pubmed-article:16121340pubmed:volume26lld:pubmed
pubmed-article:16121340pubmed:ownerNLMlld:pubmed
pubmed-article:16121340pubmed:authorsCompleteYlld:pubmed
pubmed-article:16121340pubmed:pagination298-302lld:pubmed
pubmed-article:16121340pubmed:dateRevised2007-11-14lld:pubmed
pubmed-article:16121340pubmed:meshHeadingpubmed-meshheading:16121340...lld:pubmed
pubmed-article:16121340pubmed:meshHeadingpubmed-meshheading:16121340...lld:pubmed
pubmed-article:16121340pubmed:meshHeadingpubmed-meshheading:16121340...lld:pubmed
pubmed-article:16121340pubmed:meshHeadingpubmed-meshheading:16121340...lld:pubmed
pubmed-article:16121340pubmed:meshHeadingpubmed-meshheading:16121340...lld:pubmed
pubmed-article:16121340pubmed:meshHeadingpubmed-meshheading:16121340...lld:pubmed
pubmed-article:16121340pubmed:meshHeadingpubmed-meshheading:16121340...lld:pubmed
pubmed-article:16121340pubmed:meshHeadingpubmed-meshheading:16121340...lld:pubmed
pubmed-article:16121340pubmed:meshHeadingpubmed-meshheading:16121340...lld:pubmed
pubmed-article:16121340pubmed:meshHeadingpubmed-meshheading:16121340...lld:pubmed
pubmed-article:16121340pubmed:meshHeadingpubmed-meshheading:16121340...lld:pubmed
pubmed-article:16121340pubmed:meshHeadingpubmed-meshheading:16121340...lld:pubmed
pubmed-article:16121340pubmed:meshHeadingpubmed-meshheading:16121340...lld:pubmed
pubmed-article:16121340pubmed:meshHeadingpubmed-meshheading:16121340...lld:pubmed
pubmed-article:16121340pubmed:year2005lld:pubmed
pubmed-article:16121340pubmed:articleTitleA protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancer.lld:pubmed
pubmed-article:16121340pubmed:affiliationCentre for Genetic Epidemiology, The University of Melbourne, Carlton, Victoria, Australia. j.hopper@unimelb.edu.aulld:pubmed
pubmed-article:16121340pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:16121340pubmed:publicationTypeResearch Support, U.S. Gov't, P.H.S.lld:pubmed
pubmed-article:16121340pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
pubmed-article:16121340pubmed:publicationTypeResearch Support, N.I.H., Extramurallld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:16121340lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:16121340lld:pubmed