Show simple item record

dc.contributor.authorJakubowska, A
dc.contributor.authorRozkrut, D
dc.contributor.authorAntoniou, A
dc.contributor.authorHamann, U
dc.contributor.authorScott, R J
dc.contributor.authorMcGuffog, L
dc.contributor.authorHealy, S
dc.contributor.authorSinilnikova, O M
dc.contributor.authorRennert, G
dc.contributor.authorLejbkowicz, F
dc.contributor.authorFlugelman, A
dc.contributor.authorAndrulis, I L
dc.contributor.authorGlendon, G
dc.contributor.authorOzcelik, H
dc.contributor.authorThomassen, M
dc.contributor.authorPaligo, M
dc.contributor.authorAretini, P
dc.contributor.authorKantala, J
dc.contributor.authorAroer, B
dc.contributor.authorvon Wachenfeldt, A
dc.contributor.authorLiljegren, A
dc.contributor.authorLoman, N
dc.contributor.authorHerbst, K
dc.contributor.authorKristoffersson, U
dc.contributor.authorRosenquist, R
dc.contributor.authorKarlsson, P
dc.contributor.authorStenmark-Askmalm, M
dc.contributor.authorMelin, B
dc.contributor.authorNathanson, K L
dc.contributor.authorDomchek, S M
dc.contributor.authorByrski, T
dc.contributor.authorHuzarski, T
dc.contributor.authorGronwald, J
dc.contributor.authorMenkiszak, J
dc.contributor.authorCybulski, C
dc.contributor.authorSerrano, P
dc.contributor.authorOsorio, A
dc.contributor.authorCajal, T R
dc.contributor.authorTsitlaidou, M
dc.contributor.authorBenítez, J
dc.contributor.authorGilbert, M
dc.contributor.authorRookus, M
dc.contributor.authorAalfs, C M
dc.contributor.authorKluijt, I
dc.contributor.authorBoessenkool-Pape, J L
dc.contributor.authorMeijers-Heijboer, H E J
dc.contributor.authorOosterwijk, J C
dc.contributor.authorvan Asperen, C J
dc.contributor.authorBlok, M J
dc.contributor.authorNelen, M R
dc.contributor.authorvan den Ouweland, A M W
dc.contributor.authorSeynaeve, C
dc.contributor.authorvan der Luijt, R B
dc.contributor.authorDevilee, P
dc.contributor.authorEaston, D F
dc.contributor.authorPeock, S
dc.contributor.authorFrost, D
dc.contributor.authorPlatte, R
dc.contributor.authorEllis, S D
dc.contributor.authorFineberg, E
dc.contributor.authorEvans, D G
dc.contributor.authorLalloo, F
dc.contributor.authorEeles, R
dc.contributor.authorJacobs, C
dc.contributor.authorAdlard, J
dc.contributor.authorDavidson, R
dc.contributor.authorEccles, D
dc.contributor.authorCole, T
dc.contributor.authorCook, J
dc.contributor.authorGodwin, A
dc.contributor.authorBove, B
dc.contributor.authorStoppa-Lyonnet, D
dc.contributor.authorCaux-Moncoutier, V
dc.contributor.authorBelotti, M
dc.contributor.authorTirapo, C
dc.contributor.authorMazoyer, S
dc.contributor.authorBarjhoux, L
dc.contributor.authorBoutry-Kryza, N
dc.contributor.authorPujol, P
dc.contributor.authorCoupier, I
dc.contributor.authorPeyrat, J-P
dc.contributor.authorVennin, P
dc.contributor.authorMuller, D
dc.contributor.authorFricker, J-P
dc.contributor.authorVenat-Bouvet, L
dc.contributor.authorJohannsson, O Th
dc.contributor.authorIsaacs, C
dc.contributor.authorSchmutzler, R
dc.contributor.authorWappenschmidt, B
dc.contributor.authorMeindl, A
dc.contributor.authorArnold, N
dc.contributor.authorVaron-Mateeva, R
dc.contributor.authorNiederacher, D
dc.contributor.authorSutter, C
dc.contributor.authorDeissler, H
dc.contributor.authorPreisler-Adams, S
dc.contributor.authorSimard, J
dc.contributor.authorSoucy, P
dc.contributor.authorDurocher, F
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorBeesley, J
dc.contributor.authorChen, X
dc.contributor.authorRebbeck, T
dc.contributor.authorCouch, F
dc.contributor.authorWang, X
dc.contributor.authorLindor, N
dc.contributor.authorFredericksen, Z
dc.contributor.authorPankratz, V S
dc.contributor.authorPeterlongo, P
dc.contributor.authorBonanni, B
dc.contributor.authorFortuzzi, S
dc.contributor.authorPeissel, B
dc.contributor.authorSzabo, C
dc.contributor.authorMai, P L
dc.contributor.authorLoud, J T
dc.contributor.authorLubinski, J
dc.date.accessioned2013-08-26T13:50:20Z
dc.date.available2013-08-26T13:50:20Z
dc.date.issued2012-06-05
dc.date.submitted2013-08-26
dc.identifier.citationBr. J. Cancer 2012, 106 (12):2016-24en_GB
dc.identifier.issn1532-1827
dc.identifier.pmid22669161
dc.identifier.doi10.1038/bjc.2012.160
dc.identifier.urihttp://hdl.handle.net/2336/299869
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links field.en_GB
dc.description.abstractThe variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either directly or indirectly in maintaining genomic integrity. To evaluate the potential role of genetic variants within PHB and MTHFR in breast and ovarian cancer risk, 4102 BRCA1 and 2093 BRCA2 mutation carriers, and 6211 BRCA1 and 2902 BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) were genotyped for the PHB 1630 C>T (rs6917) polymorphism and the MTHFR 677 C>T (rs1801133) polymorphism, respectively. There was no evidence of association between the PHB 1630 C>T and MTHFR 677 C>T polymorphisms with either disease for BRCA1 or BRCA2 mutation carriers when breast and ovarian cancer associations were evaluated separately. Analysis that evaluated associations for breast and ovarian cancer simultaneously showed some evidence that BRCA1 mutation carriers who had the rare homozygote genotype (TT) of the PHB 1630 C>T polymorphism were at increased risk of both breast and ovarian cancer (HR 1.50, 95%CI 1.10-2.04 and HR 2.16, 95%CI 1.24-3.76, respectively). However, there was no evidence of association under a multiplicative model for the effect of each minor allele. The PHB 1630TT genotype may modify breast and ovarian cancer risks in BRCA1 mutation carriers. This association need to be evaluated in larger series of BRCA1 mutation carriers.
dc.description.sponsorshipBreast Cancer Research Foundation Susan G Komen Foundation Istituto Toscano Tumori Cancer Care Ontario, Canada (ILA) National Cancer Institute, National Institutes of Health RFA-CA-06-503 Mayo Rochester Early Career Development Award for Non-Clinician Scientists Grant Agency of the Czech republic 301/08/P103 Ministry of Health of the CR -MZ0 MOU 2005 Fund for Scientific Research Flanders (FWO) 1.5.150.07 Ghent university 12051203 Susan G Komen Foundation Basic, Clinical and Translational BCTR0402923en_GB
dc.language.isoenen
dc.relation.urlhttp://dx.doi.org/10.1038/bjc.2012.160en_GB
dc.relation.urlhttp://www.nature.com/bjc/journal/vaop/ncurrent/abs/bjc2012160a.htmlen_GB
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388557/en_GB
dc.rightsArchived with thanks to British journal of canceren_GB
dc.subject.meshBreast Neoplasmsen_GB
dc.subject.meshFemaleen_GB
dc.subject.meshGenes, BRCA1en_GB
dc.subject.meshGenes, BRCA2en_GB
dc.subject.meshGenetic Predisposition to Diseaseen_GB
dc.subject.meshHeterozygoteen_GB
dc.subject.meshHumansen_GB
dc.subject.meshMethylenetetrahydrofolate Reductase (NADPH2)en_GB
dc.subject.meshMutationen_GB
dc.subject.meshOvarian Neoplasmsen_GB
dc.subject.meshPolymorphism, Geneticen_GB
dc.subject.meshRepressor Proteinsen_GB
dc.subject.meshRisken_GB
dc.titleAssociation of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.en
dc.typeArticleen
dc.contributor.departmentDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.en_GB
dc.identifier.journalBritish journal of canceren_GB
dc.rights.accessOpen Access - Opinn aðganguren
html.description.abstractThe variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either directly or indirectly in maintaining genomic integrity. To evaluate the potential role of genetic variants within PHB and MTHFR in breast and ovarian cancer risk, 4102 BRCA1 and 2093 BRCA2 mutation carriers, and 6211 BRCA1 and 2902 BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) were genotyped for the PHB 1630 C>T (rs6917) polymorphism and the MTHFR 677 C>T (rs1801133) polymorphism, respectively. There was no evidence of association between the PHB 1630 C>T and MTHFR 677 C>T polymorphisms with either disease for BRCA1 or BRCA2 mutation carriers when breast and ovarian cancer associations were evaluated separately. Analysis that evaluated associations for breast and ovarian cancer simultaneously showed some evidence that BRCA1 mutation carriers who had the rare homozygote genotype (TT) of the PHB 1630 C>T polymorphism were at increased risk of both breast and ovarian cancer (HR 1.50, 95%CI 1.10-2.04 and HR 2.16, 95%CI 1.24-3.76, respectively). However, there was no evidence of association under a multiplicative model for the effect of each minor allele. The PHB 1630TT genotype may modify breast and ovarian cancer risks in BRCA1 mutation carriers. This association need to be evaluated in larger series of BRCA1 mutation carriers.


This item appears in the following Collection(s)

Show simple item record