PHLPP2 gene L1016S (rs61733127) and PIK3R1 gene Met326Ile (rs3730089) polymorphisms are associated with the risk of colon and breast cancers

References

• Manning, B. D.; Cantley, L. C. AKT/PKB Signaling: Navigating Downstream. Cell 2007, 129, 1261–1274. DOI: 10.1016/j.cell.2007.06.009.
   PubMed Web of Science ®Google Scholar
• Lien, E. C.; Dibble, C. C.; Toker, A. PI3K Signaling in Cancer: Beyond AKT. Curr. Opin. Cell Biol. 2017, 45, 62–71. DOI: 10.1016/j.ceb.2017.02.007.
   PubMed Web of Science ®Google Scholar
• Vivanco, I.; Sawyers, C. L. The Phosphatidylinositol 3-Kinase AKT Pathway in Human Cancer. Nat. Rev. Cancer 2002, 2, 489–501. DOI: 10.1038/nrc839.
   PubMed Web of Science ®Google Scholar
• LoRusso, P. M. Inhibition of the PI3K/AKT/mTOR Pathway in Solid Tumors. J. Clin. Oncol. 2016, 34, 3803–3815. DOI: 10.1200/JCO.2014.59.0018.
   PubMed Web of Science ®Google Scholar
• Mundi, P. S.; Sachdev, J.; McCourt, C.; Kalinsky, K. AKT in Cancer: New Molecular Insights and Advances in Drug Development. Br. J. Clin. Pharmacol. 2016, 82, 943–956. DOI: 10.1111/bcp.13021.
   PubMed Web of Science ®Google Scholar
• Sarbassov, D. D.; Guertin, D. A.; Ali, S. M.; Sabatini, D. M. Phosphorylation and Regulation of Akt/PKB by the Rictor-mTOR Complex. Science 2005, 307, 1098–1101. DOI: 10.1126/science.1106148.
   PubMed Web of Science ®Google Scholar
• Fresno Vara, J. A.; Casado, E.; de Castro, J.; Cejas, P.; Belda-Iniesta, C.; González-Barón, M. PI3K/Akt Signalling Pathway and Cancer. Cancer Treat Rev. 2004, 30, 193–204. DOI: 10.1016/j.ctrv.2003.07.007.
   PubMed Web of Science ®Google Scholar
• Engelman, J. A.; Luo, J.; Cantley, L. C. The Evolution of Phosphatidylinositol 3-Kinases as Regulators of Growth and Metabolism. Nat. Rev. Genet. 2006, 7, 606–619. DOI: 10.1038/nrg1879.
   PubMed Web of Science ®Google Scholar
• Fruman, D. A.; Cantley, L. C.; Carpenter, C. L. Structural Organization and Alternative Splicing of the Murine Phosphoinositide 3-Kinase p85 Alpha Gene. Genomics 1996, 37, 113–121. DOI: 10.1006/geno.1996.0527.
   PubMed Web of Science ®Google Scholar
• Ueki, K.; Algenstaedt, P.; Mauvais-Jarvis, F.; Kahn, C. R. Positive and Negative Regulation of Phosphoinositide 3-Kinase-Dependent Signaling Pathways by Three Different Gene Products of the p85alpha Regulatory Subunit. Mol. Cell. Biol. 2000, 20, 8035–8046. DOI: 10.1128/.20.21.8035-8046.2000.
   PubMed Web of Science ®Google Scholar
• Cheung, L. W. T.; Walkiewicz, K. W.; Besong, T. M. D.; Guo, H.; Hawke, D. H.; Arold, S. T.; Mills, G. B. Regulation of the PI3K Pathway through a p85α Monomer-Homodimer Equilibrium. Elife. 2015, 4, e06866. DOI: 10.7554/eLife.06866.
   PubMed Web of Science ®Google Scholar
• Pleiman, C. M.; Hertz, W. M.; Cambier, J. C. Activation of Phosphatidylinositol-3’ Kinase by Src-Family Kinase SH3 Binding to the p85 Subunit. Science 1994, 263, 1609–1612. DOI: 10.1126/science.8128248.
   PubMed Web of Science ®Google Scholar
• Jimenez, C.; Jones, D. R.; Rodríguez-Viciana, P.; Gonzalez-García, A.; Leonardo, E.; Wennström, S.; von Kobbe, C.; Toran, J. L.; R-Borlado, L.; Calvo, V.; et al. Identification and Characterization of a New Oncogene Derived from the Regulatory Subunit of Phosphoinositide 3-Kinase. EMBO J. 1998, 17, 743–753. DOI: 10.1093/emboj/17.3.743.
   PubMed Web of Science ®Google Scholar
• Philp , A. J.; Campbell, I. G.; Leet, C.; Vincan, E.; Rockman, S. P. ;Whitehead, R. H.; Thomas, R. J.; Phillips, W. A. The Phosphatidylinositol 3’-Kinase p85alpha Gene Is an Oncogene in Human Ovarian and Colon Tumors. Cancer Res. 2001, 15, 7426–7429.
   Google Scholar
• Comprehensive Genomic Characterization Defines Human Glioblastoma Genes and Core Pathways. Nature 2008, 23, 1061–1068.
   Google Scholar
• Taniguchi, C. M.; Winnay, J.; Kondo, T.; Bronson, R. T.; Guimaraes, A. R.; Alemán, J. O.; Luo, J.; Stephanopoulos, G.; Weissleder, R.; Cantley, L. C.; et al. The Phosphoinositide 3-Kinase Regulatory Subunit p85alpha Can Exert Tumor Suppressor Properties through Negative Regulation of Growth Factor Signaling. Cancer Res. 2010, 70, 5305–5315. DOI: 10.1158/0008-5472.CAN-09-3399.
   PubMed Web of Science ®Google Scholar
• Hansen, T.; Andersen, C. B.; Echwald, S. M.; Urhammer, S. A.; Clausen, J. O.; Vestergaard, H.; Owens, D.; Hansen, L.; Pedersen, O. Identification of a Common Amino Acid Polymorphism in the p85alpha Regulatory Subunit of Phosphatidylinositol 3-Kinase: Effects on Glucose Disappearance Constant, Glucose Effectiveness, and the Insulin Sensitivity Index. Diabetes 1997, 46, 494–501. DOI: 10.2337/diabetes.46.3.494.
   PubMed Web of Science ®Google Scholar
• Paradis, A. E.; Kantoff, P. W.; Giovannucci, E.; Stampfer, M. J.; Ma, J. Association between the Met326Ile Polymorphism of the p85alpha Regulatory Subunit of Phosphatidylinositol 3-Kinase and Prostate Cancer Risk: A Prospective Study. Cancer Epidemiol. Biomarkers Prev. 2003, 12, 172–173.
   PubMed Web of Science ®Google Scholar
• Li, L.; Plummer, S. J.; Thompson, C. L.; Tucker, T. C.; Casey, G. Association between Phosphatidylinositol 3-Kinase Regulatory Subunit p85alpha Met326Ile Genetic Polymorphism and Colon Cancer Risk. Clin. Cancer Res. 2008, 14, 633–637. DOI: 10.1158/1078-0432.CCR-07-1211.
   PubMed Web of Science ®Google Scholar
• Feng, J.; Park, J.; Cron, P.; Hess, D.; Hemmings, B. A. Identification of a PKB/Akt Hydrophobic Motif Ser-473 Kinase as DNA-Dependent Protein Kinase. J. Biol. Chem. 2004, 279, 41189–41196. DOI: 10.1074/jbc.M406731200.
   PubMed Web of Science ®Google Scholar
• Brognard, J.; Newton, A. C. PHLiPPing the Switch on Akt and Protein Kinase C Signaling. Trends Endocrinol. Metab. 2008, 19, 223–230. DOI: 10.1016/j.tem.2008.04.001.
   PubMed Web of Science ®Google Scholar
• O’Neill, A. K.; Niederst, M. J.; Newton, A. C. Suppression of Survival Signalling Pathways by the Phosphatase PHLPP. FEBS J. 2013, 280, 572–583. DOI: 10.1111/j.1742-4658.2012.08537.x.
   PubMed Web of Science ®Google Scholar
• Gao, T.; Brognard, J.; Newton, A. C. The Phosphatase PHLPP Controls the Cellular Levels of Protein Kinase C. J. Biol. Chem. 2008, 283, 6300–6311. DOI: 10.1074/jbc.M707319200.
   PubMed Web of Science ®Google Scholar
• Brognard, J.; Niederst, M.; Reyes, G.; Warfel, N.; Newton, A. C. Common Polymorphism in the Phosphatase PHLPP2 Results in Reduced Regulation of Akt and Protein Kinase C. J. Biol. Chem. 2009, 284, 15215–15223. DOI: 10.1074/jbc.M901468200.
   PubMed Web of Science ®Google Scholar
• Ye, S.; Dhillon, S.; Ke, X.; Collins, A. R.; Day, I. N. An Efficient Procedure for Genotyping Single Nucleotide Polymorphisms. Nucleic Acids Res. 2001, 29, E88.
   PubMed Web of Science ®Google Scholar
• Arikoglu, H.; Göktürk, F.; İşçioğlu, F.; Hilmi İpekçi, S. PIK3R1 Gene Polymorphisms Are Associated with Type 2 Diabetes and Related Features in the Turkish Population. Adv. Clin. Exp. Med. 2018, 27, 921–927. DOI: 10.17219/acem/68985.
   PubMed Web of Science ®Google Scholar
• Torre, L. A.; Bray, F.; Siegel, R. L.; Ferlay, J.; Lortet-Tieulent, J.; Jemal, A. Global Cancer Statistics, 2012. CA Cancer J. Clin. 2015, 65, 87–108. DOI: 10.3322/caac.21262.
   PubMed Web of Science ®Google Scholar
• Ferlay, J.; Steliarova-Foucher, E.; Lortet-Tieulent, J.; Rosso, S.; Coebergh, J. W. W.; Comber, H.; Forman, D.; Bray, F. Cancer Incidence and Mortality Patterns in Europe: Estimates for 40 Countries in 2012. Eur. J. Cancer 2013, 49, 1374–1403. DOI: 10.1016/j.ejca.2012.12.027.
   PubMed Web of Science ®Google Scholar
• Fazel, A.; Hasanpour-Heidari, S.; Salamat, F.; Rajaie, S.; Kazeminezhad, V.; Naeimi-Tabiei, M.; Jahangirrad, A.; Sedaghat, S.; Hosseinpoor, R.; Ghasemi-Kebria, F.; et al. Marked Increase in Breast Cancer Incidence in Young Women: A 10-Year Study from Northern Iran, 2004-2013. Cancer Epidemiol. 2019, 62, 101573. DOI: 10.1016/j.canep.2019.101573.
   PubMed Web of Science ®Google Scholar
• Panahi, M. H.; Panahi, H.; Mahdavi Hezaveh, A.; Mansournia, M. A.; Bidhendi Yarandi, R. Survival Rate of Colon and Rectum Cancer in Iran: A Systematic Review and Meta-Analysis. Neoplasma 2019, 66, 988–994. DOI: 10.4149/neo_2019_190131N92.
   PubMed Web of Science ®Google Scholar
• Qi, L.; Sun, K.; Zhuang, Y.; Yang, J.; Chen, J. Study on the Association between PI3K/AKT/mTOR Signaling Pathway Gene Polymorphism and Susceptibility to Gastric Cancer. J. Buon. 2017, 22, 1488–1493.
   PubMed Web of Science ®Google Scholar
• Chen, Y.; Zeng, C.; Zhan, Y.; Wang, H.; Jiang, X.; Li, W. Aberrant Low Expression of p85α in Stromal Fibroblasts Promotes Breast Cancer Cell Metastasis through Exosome-Mediated Paracrine Wnt10b. Oncogene 2017, 36, 4692–4705. DOI: 10.1038/onc.2017.100.
   PubMed Web of Science ®Google Scholar
• Donini, C. F.; Zazzo, E. D.; Zuchegna, C.; Domenico, M. D.; D’Inzeo, S.; Nicolussi, A.; Avvedimento, E. V.; Coppa, A.; Porcellini, A. The p85α Regulatory Subunit of PI3K Mediates cAMP-PKA and Retinoic Acid Biological Effects on MCF7 Cell Growth and Growth and Migration. Int. J. Oncol. 2012, 40, 1627–1635. DOI: 10.3892/ijo.2012.1383.
   PubMed Web of Science ®Google Scholar
• Cizkova, M.; Vacher, S.; Meseure, D.; Trassard, M.; Susini, A.; Mlcuchova, D.; Callens, C.; Rouleau, E.; Spyratos, F.; Lidereau, R.; et al. PIK3R1 Underexpression Is an Independent Prognostic Marker in Breast Cancer. BMC Cancer. 2013, 13, 545. DOI: 10.1186/1471-2407-13-545.
   PubMed Web of Science ®Google Scholar
• Luo, J.; Cantley, L. C. The Negative Regulation of Phosphoinositide 3-Kinase Signaling by p85 and It’s Implication in Cancer. Cell Cycle 2005, 4, 1309–1312. DOI: 10.4161/cc.4.10.2062.
   PubMed Web of Science ®Google Scholar
• Taniguchi, C. M.; Tran, T. T.; Kondo, T.; Luo, J.; Ueki, K.; Cantley, L. C.; Kahn, C. R. Phosphoinositide 3-Kinase Regulatory Subunit p85alpha Suppresses Insulin Action via Positive Regulation of PTEN. Proc. Natl. Acad. Sci. U. S. A. 2006, 103, 12093–12097. DOI: 10.1073/pnas.0604628103.
   PubMed Web of Science ®Google Scholar
• Almind, K.; Delahaye, L.; Hansen, T.; Van Obberghen, E.; Pedersen, O.; Kahn, C. R. Characterization of the Met326Ile Variant of Phosphatidylinositol 3-Kinase p85alpha. Proc. Natl. Acad. Sci. U. S. A. 2002, 99, 2124–2128. DOI: 10.1073/pnas.042688799.
   PubMed Web of Science ®Google Scholar
• Liu, J.; Weiss, H. L.; Rychahou, P.; Jackson, L. N.; Evers, B. M.; Gao, T. Loss of PHLPP Expression in Colon Cancer: Role in Proliferation and Tumorigenesis. Oncogene 2009, 28, 994–1004. DOI: 10.1038/onc.2008.450.
   PubMed Web of Science ®Google Scholar
• Stemke-Hale, K.; Shipman, K.; Kitsou-Mylona, I.; de Castro, D. G.; Hird, V.; Brown, R.; Flanagan, J.; Gabra, H.; Mills, G. B.; Agarwal, R.; El-Bahrawy, M. Frequency of Mutations and Polymorphisms in Borderline Ovarian Tumors of Known Cancer Genes. Mod. Pathol. 2013, 26, 544–552. DOI: 10.1038/modpathol.2012.194.
   PubMed Web of Science ®Google Scholar