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Research Article| Volume 45, ISSUE 3, P435-442, February 2009

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Single nucleotide polymorphisms in chromosomal instability genes and risk and clinical outcome of breast cancer: A Swedish prospective case-control study

Published:November 13, 2008DOI:https://doi.org/10.1016/j.ejca.2008.10.001

      Abstract

      Chromosomal instability (CIN) is a major characteristic of many cancers. We investigated whether putatively functional single nucleotide polymorphisms (SNPs) in genes related to CIN (CENPF, ESPL1, NEK2, PTTG1, ZWILCH, ZWINT) affect breast cancer (BC) risk and clinical outcome in a Swedish cohort of 749 incident BC cases with detailed clinical data and up to 15 years of follow-up and 1493 matched controls. As a main observation, carriers of the A allele of the CENPF SNP rs438034 had a worse BC-specific survival compared to the wild type genotype GG carriers (hazard ratio (HR) 2.65, 95% confidence interval (CI) 1.19–5.90), although they were less likely to have regional lymph node metastases (odds ratio (OR) 0.71, 95% CI 0.51–1.01) and tumours of stage II–IV (OR 0.73, 95% CI 0.54–0.99). As there is increasing evidence that CENPF is associated with poor prognosis in patients with primary BC, further independent studies are needed to clarify the importance of genetic variation in the CENPF gene in the clinic.

      Keywords

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      References

        • Jallepalli P.V.
        • Lengauer C.
        Chromosome segregation and cancer: cutting through the mystery.
        Nat Rev Cancer. 2001; 1: 109-117
        • Kops G.J.
        • Weaver B.A.
        • Cleveland D.W.
        On the road to cancer: aneuploidy and the mitotic checkpoint.
        Nat Rev Cancer. 2005; 5: 773-785
        • Rajagopalan H.
        • Lengauer C.
        Aneuploidy and cancer.
        Nature. 2004; 432: 338-341
        • Draviam V.M.
        • Xie S.
        • Sorger P.K.
        Chromosome segregation and genomic stability.
        Curr Opin Genet Dev. 2004; 14: 120-125
        • Gollin S.M.
        Mechanisms leading to chromosomal instability.
        Semin Cancer Biol. 2005; 15: 33-42
        • Jefford C.E.
        • Irminger-Finger I.
        Mechanisms of chromosome instability in cancers.
        Crit Rev Oncol Hematol. 2006; 59: 1-14
        • Tomonaga T.
        • Nomura F.
        Chromosome instability and kinetochore dysfunction.
        Histol Histopathol. 2007; 22: 191-197
        • Weaver B.A.
        • Cleveland D.W.
        Does aneuploidy cause cancer?.
        Curr Opin Cell Biol. 2006; 18: 658-667
        • Carter S.L.
        • Eklund A.C.
        • Kohane I.S.
        • et al.
        A signature of chromosomal instability inferred from gene expression profiles predicts clinical outcome in multiple human cancers.
        Nat Genet. 2006; 38: 1043-1048
        • Perez de Castro I.
        • de Carcer G.
        • Malumbres M.
        A census of mitotic cancer genes: new insights into tumour cell biology and cancer therapy.
        Carcinogenesis. 2007; 28: 899-912
        • Fridlyand J.
        • Snijders A.M.
        • Ylstra B.
        • et al.
        Breast tumour copy number aberration phenotypes and genomic instability.
        BMC Cancer. 2006; 6: 96
        • Soerjomataram I.
        • Louwman M.W.
        • Ribot J.G.
        • et al.
        An overview of prognostic factors for long-term survivors of breast cancer.
        Breast Cancer Res Treat. 2008; 107: 309-330
        • Easton D.F.
        • Pooley K.A.
        • Dunning A.M.
        • et al.
        Genome-wide association study identifies novel breast cancer susceptibility loci.
        Nature. 2007; 447: 1087-1093
        • Hartman M.
        • Lindstrom L.
        • Dickman P.W.
        • et al.
        Is breast cancer prognosis inherited?.
        Breast Cancer Res. 2007; 9: R39
        • Hemminki K.
        • Ji J.
        • Forsti A.
        • et al.
        Survival in breast cancer is familial.
        Breast Cancer Res Treat. 2008; 110: 177-182
        • Vaclavicek A.
        • Bermejo J.L.
        • Wappenschmidt B.
        • et al.
        Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk.
        Breast Cancer Res Treat. 2007; 106: 205-213
        • Kaaks R.
        • Lundin E.
        • Rinaldi S.
        • et al.
        Prospective study of IGF-I, IGF-binding proteins, and breast cancer risk, in northern and southern Sweden.
        Cancer Cause Control. 2002; 13: 307-316
        • Wong K.K.
        • Tsang Y.T.
        • Shen J.
        • et al.
        Allelic imbalance analysis by high-density single-nucleotide polymorphic allele (SNP) array with whole genome amplified DNA.
        Nucleic Acids Res. 2004; 32: e69
        • Paez J.G.
        • Lin M.
        • Beroukhim R.
        • et al.
        Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification.
        Nucleic Acids Res. 2004; 32: e71
        • Vaclavicek A.
        • Hemminki K.
        • Bartram C.R.
        • et al.
        Association of prolactin and its receptor gene regions with familial breast cancer.
        J Clin Endocrinol Metab. 2006; 91: 1513-1519
        • Barrett J.C.
        • Fry B.
        • Maller J.
        • et al.
        Haploview: analysis and visualization of LD and haplotype maps.
        Bioinformatics. 2005; 21: 263-265
        • Lo Y.L.
        • Yu J.C.
        • Chen S.T.
        • et al.
        Breast cancer risk associated with genotypic polymorphism of the mitotic checkpoint genes: a multigenic study on cancer susceptibility.
        Carcinogenesis. 2007; 28: 1079-1086
        • Feng J.
        • Huang H.
        • Yen T.J.
        CENP-F is a novel microtubule-binding protein that is essential for kinetochore attachments and affects the duration of the mitotic checkpoint delay.
        Chromosoma. 2006; 115: 320-329
        • Varis A.
        • Salmela A.L.
        • Kallio M.J.
        Cenp-F (mitosin) is more than a mitotic marker.
        Chromosoma. 2006; 115: 288-295
        • Ma L.
        • Zhao X.
        • Zhu X.
        Mitosin/CENP-F in mitosis, transcriptional control, and differentiation.
        J Biomed Sci. 2006; 13: 205-213
        • Zhu X.
        • Mancini M.A.
        • Chang K.H.
        • et al.
        Characterization of a novel 350-kilodalton nuclear phosphoprotein that is specifically involved in mitotic-phase progression.
        Mol Cell Biol. 1995; 15: 5017-5029
        • Zhu X.
        • Chang K.H.
        • He D.
        • et al.
        The C terminus of mitosin is essential for its nuclear localization, centromere/kinetochore targeting, and dimerization.
        J Biol Chem. 1995; 270: 19545-19550
        • Zhu X.
        Structural requirements and dynamics of mitosin-kinetochore interaction in M phase.
        Mol Cell Biol. 1999; 19: 1016-1024
        • O’Brien S.L.
        • Fagan A.
        • Fox E.J.
        • et al.
        CENP-F expression is associated with poor prognosis and chromosomal instability in patients with primary breast cancer.
        Int J Cancer. 2007; 120: 1434-1443