Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.

2.50
Hdl Handle:
http://hdl.handle.net/2336/29981
Title:
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.
Authors:
Stacey, Simon N; Manolescu, Andrei; Sulem, Patrick; Rafnar, Thorunn; Gudmundsson, Julius; Gudjonsson, Sigurjon A; Masson, Gisli; Jakobsdottir, Margret; Thorlacius, Steinunn; Helgason, Agnar; Aben, Katja K; Strobbe, Luc J; Albers-Akkers, Marjo T; Swinkels, Dorine W; Henderson, Brian E; Kolonel, Laurence N; Le Marchand, Loic; Millastre, Esther; Andres, Raquel; Godino, Javier; Garcia-Prats, Maria Dolores; Polo, Eduardo; Tres, Alejandro; Mouy, Magali; Saemundsdottir, Jona; Backman, Valgerdur M; Gudmundsson, Larus; Kristjansson, Kristleifur; Bergthorsson, Jon T; Kostic, Jelena; Frigge, Michael L; Geller, Frank; Gudbjartsson, Daniel; Sigurdsson, Helgi; Jonsdottir, Thora; Hrafnkelsson, Jon; Johannsson, Jakob; Sveinsson, Thorarinn; Myrdal, Gardar; Grimsson, Hlynur Niels; Jonsson, Thorvaldur; von Holst, Susanna; Werelius, Barbro; Margolin, Sara; Lindblom, Annika; Mayordomo, Jose I; Haiman, Christopher A; Kiemeney, Lambertus A; Johannsson, Oskar Th; Gulcher, Jeffrey R; Thorsteinsdottir, Unnur; Kong, Augustine; Stefansson, Kari
Citation:
Nat. Genet. 2007, 39(7):865-9
Issue Date:
1-Jul-2007
Abstract:
Familial clustering studies indicate that breast cancer risk has a substantial genetic component. To identify new breast cancer risk variants, we genotyped approximately 300,000 SNPs in 1,600 Icelandic individuals with breast cancer and 11,563 controls using the Illumina Hap300 platform. We then tested selected SNPs in five replication sample sets. Overall, we studied 4,554 affected individuals and 17,577 controls. Two SNPs consistently associated with breast cancer: approximately 25% of individuals of European descent are homozygous for allele A of rs13387042 on chromosome 2q35 and have an estimated 1.44-fold greater risk than noncarriers, and for allele T of rs3803662 on 16q12, about 7% are homozygous and have a 1.64-fold greater risk. Risk from both alleles was confined to estrogen receptor-positive tumors. At present, no genes have been identified in the linkage disequilibrium block containing rs13387042. rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://dx.doi.org/10.1038/ng2064

Full metadata record

DC FieldValue Language
dc.contributor.authorStacey, Simon N-
dc.contributor.authorManolescu, Andrei-
dc.contributor.authorSulem, Patrick-
dc.contributor.authorRafnar, Thorunn-
dc.contributor.authorGudmundsson, Julius-
dc.contributor.authorGudjonsson, Sigurjon A-
dc.contributor.authorMasson, Gisli-
dc.contributor.authorJakobsdottir, Margret-
dc.contributor.authorThorlacius, Steinunn-
dc.contributor.authorHelgason, Agnar-
dc.contributor.authorAben, Katja K-
dc.contributor.authorStrobbe, Luc J-
dc.contributor.authorAlbers-Akkers, Marjo T-
dc.contributor.authorSwinkels, Dorine W-
dc.contributor.authorHenderson, Brian E-
dc.contributor.authorKolonel, Laurence N-
dc.contributor.authorLe Marchand, Loic-
dc.contributor.authorMillastre, Esther-
dc.contributor.authorAndres, Raquel-
dc.contributor.authorGodino, Javier-
dc.contributor.authorGarcia-Prats, Maria Dolores-
dc.contributor.authorPolo, Eduardo-
dc.contributor.authorTres, Alejandro-
dc.contributor.authorMouy, Magali-
dc.contributor.authorSaemundsdottir, Jona-
dc.contributor.authorBackman, Valgerdur M-
dc.contributor.authorGudmundsson, Larus-
dc.contributor.authorKristjansson, Kristleifur-
dc.contributor.authorBergthorsson, Jon T-
dc.contributor.authorKostic, Jelena-
dc.contributor.authorFrigge, Michael L-
dc.contributor.authorGeller, Frank-
dc.contributor.authorGudbjartsson, Daniel-
dc.contributor.authorSigurdsson, Helgi-
dc.contributor.authorJonsdottir, Thora-
dc.contributor.authorHrafnkelsson, Jon-
dc.contributor.authorJohannsson, Jakob-
dc.contributor.authorSveinsson, Thorarinn-
dc.contributor.authorMyrdal, Gardar-
dc.contributor.authorGrimsson, Hlynur Niels-
dc.contributor.authorJonsson, Thorvaldur-
dc.contributor.authorvon Holst, Susanna-
dc.contributor.authorWerelius, Barbro-
dc.contributor.authorMargolin, Sara-
dc.contributor.authorLindblom, Annika-
dc.contributor.authorMayordomo, Jose I-
dc.contributor.authorHaiman, Christopher A-
dc.contributor.authorKiemeney, Lambertus A-
dc.contributor.authorJohannsson, Oskar Th-
dc.contributor.authorGulcher, Jeffrey R-
dc.contributor.authorThorsteinsdottir, Unnur-
dc.contributor.authorKong, Augustine-
dc.contributor.authorStefansson, Kari-
dc.date.accessioned2008-06-12T14:22:53Z-
dc.date.available2008-06-12T14:22:53Z-
dc.date.issued2007-07-01-
dc.date.submitted2008-06-12-
dc.identifier.citationNat. Genet. 2007, 39(7):865-9en
dc.identifier.issn1061-4036-
dc.identifier.pmid17529974-
dc.identifier.doi10.1038/ng2064-
dc.identifier.urihttp://hdl.handle.net/2336/29981-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractFamilial clustering studies indicate that breast cancer risk has a substantial genetic component. To identify new breast cancer risk variants, we genotyped approximately 300,000 SNPs in 1,600 Icelandic individuals with breast cancer and 11,563 controls using the Illumina Hap300 platform. We then tested selected SNPs in five replication sample sets. Overall, we studied 4,554 affected individuals and 17,577 controls. Two SNPs consistently associated with breast cancer: approximately 25% of individuals of European descent are homozygous for allele A of rs13387042 on chromosome 2q35 and have an estimated 1.44-fold greater risk than noncarriers, and for allele T of rs3803662 on 16q12, about 7% are homozygous and have a 1.64-fold greater risk. Risk from both alleles was confined to estrogen receptor-positive tumors. At present, no genes have been identified in the linkage disequilibrium block containing rs13387042. rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone.en
dc.language.isoenen
dc.publisherNature Pub. Co.en
dc.relation.urlhttp://dx.doi.org/10.1038/ng2064en
dc.subject.meshBreast Neoplasmsen
dc.subject.meshCase-Control Studiesen
dc.subject.meshChromosomes, Human, Pair 16en
dc.subject.meshChromosomes, Human, Pair 2en
dc.subject.meshFemaleen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshHumansen
dc.subject.meshReceptors, Estrogenen
dc.subject.meshVariation (Genetics)en
dc.titleCommon variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.en
dc.typeArticleen
dc.contributor.departmentdeCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland. simon.stacey@decode.isen
dc.identifier.journalNature geneticsen

Related articles on PubMed

All Items in Hirsla are protected by copyright, with all rights reserved, unless otherwise indicated.