CLINICAL RELEVANCE OF CHEK2 AND NBN MUTATIONS IN THE MACEDONIAN POPULATION
Maleva Kostovska I, Jakimovska M, Kubelka-Sabit K, Karadjozov M, Arsovski A, Stojanovska L, Plaseska-Karanfilska D1,
*Corresponding Author: Dijana Plaseska-Karanfilska, M.D., Ph.D., Research Centre for Genetic Engineering and Biotechnology “Geogi D. Efremov,” Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia. Tel: +389-2-3235-410. Fax: +389-2-3155-434. E-mail: dijana@manu.edu.mk
page: 47

REFERENCES

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The CHEK2 I157T variant and breast cancer susceptibility: A systematic review and meta-analysis. Asian Pac J Cancer Prev. 2012; 13(4): 1355-1360. 12. Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell. 1998; 93(3): 467-476. 13. Varon R, Seemanova E, Chrzanowska K, Hnateyko O, Piekutowska-Abramczuk D, Krajewska- Walasek M, et al. Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur J Hum Genet. 2000; 8(11): 900-902. 14. Bogdanova N, Feshchenko S, Schurmann P, Waltes R, Wieland B, Hillemanns P, et al. Nijmegen breakage syndrome mutations and risk of breast cancer. Int J Cancer. 2008; 122(4): 802-806. 15. Maleva I, Madjunkova S, Bozhinovski G, Smickova E, Kondov G, Spiroski Z, et al. Genetic variation of the brca1 and brca2 genes in Macedonian patients. Balkan J Med Genet. 2012; 15(Suppl): 81-85. 16. de Jong MM, van der Graaf WTA, Nolte IM, Te Meerman GJ, Oosterwijk JC, van der Steege G, et al. Increased CHEK2 1100delC genotype frequency (also) in unselected breast cancer patients (conference abstract). American Society of Clinical Oncology Annual Meeting Proceedings (Post- Meeting Edition), New Orleans, LA, USA, June 5-8 2004. J Clin Oncol. 2004; 22(14S): 9536. 17. Einarsdottir K, Humphreys K, Bonnard C, Palmgren J, Iles MM, Sjolander A, et al. Linkage disequilibrium mapping of CHEK2: Common variation and breast cancer risk. PLoS Med. 2006; 3(6): e168. doi: 10.1371/ journal. pmed.0030168. 18. Weischer M, Bojesen SE, Tybjaerg-Hansen A, Axelsson CK, Nordestgaard BG. Increased risk of breast cancer associated with CHEK2*1100delC. J Clin Oncol. 2007; 25(1): 57-63. 19. Mateus Pereira LH, Sigurdson AJ, Doody MM, Pineda MA, Alexander BH, Greene MH, et al. CHEK2: 1100delC and female breast cancer in the United States. Int J Cancer. 2004; 112(3): 541-543. 20. Rashid MU, Jakubowska A, Justenhoven C, Harth V, Pesch B, Baisch C, et al. German populations with infrequent CHEK2*1100delC and minor associations with early-onset and familial breast cancer. Eur J Cancer. 2005; 41(18): 2896-2903. 21. Kleibl Z, Novotny J, Bezdickova D, Malik R, Klei-blova P, Foretova L, et al. The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic. Breast Cancer Res Treat. 2005; 90(2): 165-167. 22. Krivokuca A, Dobricic J, Brankovic-Magic M. CHEK2 1100delC and Del5395bp mutations in BRCA-negative individuals from Serbian hereditary breast and ovarian cancer families. J BUON. 2013; 18(3): 594-600. 23. Bogdanova N, Feshchenko S, Cybulski C, Dork T. CHEK2 mutation and hereditary breast cancer. J Clin Oncol. 2007; 25(19): e26. doi: 10.1200/ JCO.2007.11.4223. 24. Domagala P, Wokolorczyk D, Cybulski C, Huzarski T, Lubinski J, Domagala W. Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer. Breast Cancer Res Treat. 2012; 132(3): 937-945. 25. Cybulski C, Gorski B, Huzarski T, Byrski T, Gronwald J, Debniak T, et al. Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations. J Med Genet. 2009; 46(2):.132-135. 26. Serrano-Fernandez P, Debniak T, Gorski B, Bogdanova N, Dork T, Cybulski C, et al. Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. Breast Cancer Res Treat. 2009; 117(1): 161-165. 27. Kleibl Z, Havranek O, Hlavata I, Novotny J, Sevcik J, Pohlreich P, et al. The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population. Eur J Cancer. 2009; 45(4): 618-624. 28. Gorski B, Cybulski C, Huzarski T, Byrski T, Gronwald J, Jakubowska A, et al. Breast cancer predisposing alleles in Poland. Breast Cancer Res Treat. 2005; 92(1): 19-24. 29. Steffen J, Nowakowska D, Niwinska A, Czapczak D, Kluska A, Piatkowska M, et al. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer. 2006; 119(2): 472-475. 30. Carlomagno F, Chang-Claude J, Dunning AM, Ponder BA. Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: No association with risk of breast cancer. Genes Chromosomes Cancer. 1999; 25(4): 393-395. 31. Mateju M, Kleiblova P, Kleibl Z, Janatova M, Soukupova J, Ticha I, et al. Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women. Breast Cancer Res Treat. 2012; 133(2): 809-811.



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