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Association of PHB 1630 C andgt; T and MTHFR 677 C andgt; T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study
Pomeranian Medical University, Poland .
University of Szczecin, Poland .
University of Cambridge, England .
Deutsch Krebsforschungszentrum DKFZ, Germany .
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2012 (English)In: British Journal of Cancer, ISSN 0007-0920, E-ISSN 1532-1827, Vol. 106, no 12, 2016-2024 p.Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: The 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. less thanbrgreater than less thanbrgreater thanMETHODS: 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 Candgt;T (rs6917) polymorphism and the MTHFR 677 Candgt;T (rs1801133) polymorphism, respectively. less thanbrgreater than less thanbrgreater thanRESULTS: There was no evidence of association between the PHB 1630 Candgt;T and MTHFR 677 Candgt;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 Candgt;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. less thanbrgreater than less thanbrgreater thanCONCLUSION: 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.

Place, publisher, year, edition, pages
Cancer Research UK / Nature Publishing Group , 2012. Vol. 106, no 12, 2016-2024 p.
Keyword [en]
BRCA1/2 mutation carriers, PHB 1630 C andgt, T polymorphism, MTHFR 677 C andgt, T polymorphism, breast/ovarian cancer risk
National Category
Medical and Health Sciences
URN: urn:nbn:se:liu:diva-79091DOI: 10.1038/bjc.2012.160ISI: 000305011100018OAI: diva2:538265

Funding Agencies|Breast 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)||Ghent university|12051203|Susan G Komen Foundation Basic, Clinical and Translational|||BCTR0402923|

Available from: 2012-06-29 Created: 2012-06-29 Last updated: 2013-03-28

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Stenmark-Askmalm, Marie
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OncologyFaculty of Health SciencesDepartment of Clinical Pathology and Clinical Genetics
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