DETECTION OF ALLELIC VARIANTS OF THE POLE AND POLD1 GENES IN COLORECTAL CANCER PATIENTS
Pätzold LA, Bērziņa D, Daneberga Z, Gardovskis J, Miklaševičs E*
*Corresponding Author: Professor Dr. Edvīns Miklaševičs, Institute of Oncology, Riga Stradiņš University, Dzirciema iela 16, Riga LV1007, Latvia. Tel: +371-6770-4028. Fax: +371-6706-9545. E-mail: edvins. miklasevics@rsu.lv
page: 83

REFERENCES

1. Ferlay J, Steliarova-Foucher E, Lortet-Tieulent J, Rosso S, Coebergh JW, Comber H, et al. Cancer incidence and mortality patterns in Europe: Estimates for 40 countries in 2012. Eur J Cancer. 2013; 49(6): 1374-1403. 2. Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet. 2013; 45(2): 136-144. 3. Jansen AM, van Wezel T, van den Akker BE, Ventayol Garcia M, Ruano D, Tops CM, et al. Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers. Eur J Hum Genet. 2016; 24(7): 1089-1092. 4. Korona DA, Lecompte KG, Pursell ZF. The high fidelity and unique error signature of human DNA polymerase epsilon. Nucleic Acids Res. 2011; 39(5): 1763-1773. 5. Kunkel TA. DNA replication fidelity. J Biol Chem. 2004; 279(17): 16895-16898. 6. Schmitt MW, Matsumoto Y, Loeb LA. High fidelity and lesion bypass capability of human DNA polymerase delta. Biochimie. 2009; 91(9): 1163-1172. 7. Albertson TM, Ogawa M, Bugni JM, Hays LE, Chen Y, Wang Y, et al. DNA polymerase ε and δ proofreading suppress discrete mutator and cancer phenotypes in mice. Proc Natl Acad Sci USA. 2009; 106(40): 17101-17104. 8. Vanags A, Strumfa I, Gardovskis A, Borosenko V, Aboliņš A, Teibe U, et al. Population screening for hereditary and familial cancer syndromes in Valka district of Latvia. Hered Cancer Clin Pract. 2010; 8(1): 8. 9. Berzina D, Irmejs A, Kalniete D, Borosenko V, Nakazawa-Miklaševiča M, Rībenieks K, et al. Novel germline MLH1 and MSH2 mutations in Latvian Lynch syndrome families. Exp Oncol. 2012; 34(1): 49-52. 10. Sharp PA, Burge CB. Classification of introns: U2- type or U12-type. Cell. 1997; 91(7): 875-879. 11. Patel AA, Steitz JA. Splicing double: Insights from the second spliceosome. Nat Rev Mol Cell Biol. 2003; 4(12): 960-970. 12. Reed R. The organization of 3’ splice-site sequences in mammalian introns. Genes Dev. 1989; 3(12B): 2113-2123.



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