Investigation of two Wnt signalling pathway single nucleotide polymorphisms in a breast cancer-affected Australian population.

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  • Author(s): Gabrovska PN;Gabrovska PN; Smith RA; Haupt LM; Griffiths LR
  • Source:
    Twin research and human genetics : the official journal of the International Society for Twin Studies [Twin Res Hum Genet] 2011 Dec; Vol. 14 (6), pp. 562-7.
  • Publication Type:
    Journal Article; Research Support, Non-U.S. Gov't; Twin Study
  • Language:
    English
  • Additional Information
    • Source:
      Publisher: Cambridge University Press Country of Publication: England NLM ID: 101244624 Publication Model: Print Cited Medium: Print ISSN: 1832-4274 (Print) Linking ISSN: 18324274 NLM ISO Abbreviation: Twin Res Hum Genet Subsets: MEDLINE
    • Publication Information:
      Publication: 2012- : Cambridge, England : Cambridge University Press
      Original Publication: Bowen Hills, QLD, Australia : Published for the ISTS by Australian Academic Press, [2005]-
    • Subject Terms:
      Polymorphism, Single Nucleotide*; Breast Neoplasms/*genetics ; Wnt Signaling Pathway/*genetics; Aged ; Australia/epidemiology ; Breast Neoplasms/epidemiology ; Calcineurin/genetics ; Calcineurin/metabolism ; Case-Control Studies ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Middle Aged ; Protein Serine-Threonine Kinases/genetics ; Protein Serine-Threonine Kinases/metabolism ; Risk Factors ; Sequence Analysis, DNA
    • Abstract:
      In the mammary gland, Wnt signals are strongly implicated in initial development of the mammary rudiments and in the ductal branching and alveolar morphogenesis that occurs during pregnancy. Previously, we identified two Wnt signaling pathway-implicated genes, PPP3CA and MARK4, as having a role in more aggressive and potentially metastatic breast tumors. In this study, we examined two SNPs within PPP3CA and MARK4 in an Australian case-control study population for a potential role in human breast cancers. 182 cases and 180 controls were successfully genotyped for the PPP3CA SNP (rs2850328) and 182 cases and 177 controls were successfully genotyped for the MARK4 SNP (rs2395) using High Resolution Melt (HRM) analysis. Genotypes of randomly selected samples for both SNPs were validated by dye terminator sequencing. Chi-square tests were performed to determine any significant differences in the genotype and allele frequencies between the cases and controls. Chi-square analysis showed no statistically significant difference (p > .05) for genotype frequencies between cases and controls for rs2850328 (chi2 = 1.2, p = .5476) or rs2395 (chi2 = .3, p = .8608). Similarly, no statistical difference was observed for allele frequencies for rs2850328 (chi2 = .68, p = .4108) or rs2395 (chi2 = .02, p = .893). Even though an association of the polymorphisms rs2850328 and rs2395 and breast cancer was not detected in our case-control study population, other variants within the PPP3CA and MARK4 genes may still be associated with breast cancer, as both genes are implicated with processes involved in the disease as well as their mutual partaking in the Wnt signaling pathway.
    • Accession Number:
      EC 2.7.1.- (MARK4 protein, human)
      EC 2.7.11.1 (Protein Serine-Threonine Kinases)
      EC 3.1.3.16 (Calcineurin)
      EC 3.1.3.16 (PPP3CA protein, human)
    • Publication Date:
      Date Created: 20120418 Date Completed: 20120510 Latest Revision: 20211203
    • Publication Date:
      20221213
    • Accession Number:
      10.1375/twin.14.6.562
    • Accession Number:
      22506312