High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany

Journal of Applied Genetics

Volumn 51, Issue 2, 2010, Pages 211-214

  Maurer, M ^a   Hoffmann, K ^a   Sperling, K ^a   Varon, R ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

c.657 661del5 mutation; Frequency; NBN gene; Nijmegen breakage syndrome; Sorbs

Indexed keywords

EID: 77952821315     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03195730     Document Type: Article

References (25)

1. Bogdanova N, Feshchenko S, Schümann P, Waltes R, Wieland B, Hillemanns P, et al. 2008. Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int J Cancer 122: 802-806.
2. Buslov KG, Iyevleva AG, Chekmariova EV, Suspitsin EN, Togo AV, Kuligina Esh, et al. 2005. NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia. Int J Cancer 114: 585-589.
3. Carlomagno F, Chang-Claude J, Dunning AM, Ponder BA, 1999. 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 25: 393-395.
4. Carney JP, Maser RS, Olivares H, Davis EM, Le BeauM, Yates JR 3rd, et al. 1998. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage ofdouble-strand break repair to the cellular DNA damage response. Cell 93: 477-486.
5. Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Bialecka M, Gutkowska A, Goryluk-Kozakiewicz B, et al. 1995. Eleven Polish patients withmicrocephaly, immunodeficiency, andchromo-somal instability: the Nijmegen breakage syndrome. Am J Med Genet 57: 462-471.
6. Cybulski C, Górski B, Debniak T, Gliniewicz B, Mierzejewski M, Masojć B, et al. 2004. NBS1 is a prostate cancer susceptibility gene. Cancer Res 64: 1215-1219.
7. Czornak K, Chughtai S, Chrzanowska KH, 2008. Mystery of DNArepair: the role of the MRN complex and ATM kinase in DNA repair. J Appl Genet 49: 383-396.
8. Dembowska-Baginska B, Perek D, Brozyna A, Wakulinska A, Olczak-Kowalczyk D, Gladkowska-DuraM, etal. 2009. Non-Hodgkinlymphoma (NHL) in children with Nijmegen breakage syndrome (NBS). Pediatr Blood Cancer 52: 186-190.
9. Dȩbniak T, Górski B, Cybulski C, Jakubowska A, Kurzawski G, Lener M, et al. 2003. Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma ofthe skin. Melanoma Res 13: 365-370.
10. Difilippantonio S, Celeste A, Fernandez-Capetillo O, Chen HT, Reina San Martin B, Van Laethem F, et al. 2005. Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models. Nat Cell Biol 7: 675-685.
11. Distel LV, Neubauer S, Keller U, Sprung CN, Sauer R, Grabenbauer GG, 2006. Individual differences in chromosomal aberrations after in vitro irradiation of cells from healthy individuals, cancer and cancer susceptibility syndrome patients. Radiother Oncol 81: 257-263.
12. Drábek J, Hajdúch M, Gojová L, Weigl E, Mihál V, 2002. Frequency of 657del 5 of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers. Cancer Genet Catogent 138: 157-159.
13. Górski B, Debniak T, Masojć B, Mierzejewski M, Medrek K, Cybulski C, et al. 2003. Germline 657del5 mutation in the NBS1 gene in breast cancer patients. Int J Cancer 106: 379-381.
14. Hiel JA, 2000. The International Nijmegen Breakage Syndrome Study Group. Nijmegen breakage syndrome. Arch Dis Child 82: 400-406.
15. Little JB, Nagasawa H, Dahlberg WK, Zdzienicka MZ, Burma S, Chen DJ, 2002. Differing responses of Nijmegen breakage syndrome and ataxia telangiectasia cells to ionizing radiation. Radiat Res 158: 319-326.
16. Matsuura S, Tauchi H, Nakamura A, Kondo N, Sakamoto S, Endo S, et al. 1998. Positional cloning of the gene for Nijmegen breakage syndrome. Nat Genet 19: 171-181.
17. Neubauer S, Arutyunyan R, Stumm M, Dörk T, Bendix R, Bremer M, et al. 2002. Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting. RadiatRes 157: 312-321.
18. Nowak J, Mosor M, Ziółkowska I, Wierzbicka M, Pernak-Schwarz M, Przyborska M, 2008. Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours. Eur J Cancer 44: 627-630.
19. Taylor GM, O'Brien HP, Greaves MF, Ravetto PF, Eden OB, 2001. Correspondence re: R. Varon et al. Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia. Cancer Res 61: 3570-3572. Cancer Res 63: 6563-6564.
20. Seidemann K, Henze G, Beck JD, Sauerbrey A, Kiihl J, Mann G, Reiter A, 2000. Non-Hodgkin's lym-phoma in pedriatic patients with chromosomal breakage syndromes (AT and NBS): experience form the BFM trials. Ann Oncol 11: 141-145.
21. Seemanová E, 1990. An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability. Mutat Res 238: 321-324.
22. Seemanová E, Jarolim P, Seeman P, Varon R, Digweed M, Swift M, Sperling K, 2007. Cancer risk of heterozygotes with the NBN founder mutation. J Natl Cancer Inst 99: 1875-1880.
23. Steffen J, Varon R, Mosor M, Maneva G, Maurer M, Stumm M, et al. 2004. Increased cancer risk of het-erozygotes with NBS1 germline mutations in Poland. Int J Cancer 111: 67-71.
24. Varon R, Reis A, Henze G, Graf von Einsiedel H, Sperling K, Seeger K, 2001. Mutations in the Nijmegen Breakage Syndrome Gene (NBS1) in Childhood Acute Lymphoblastic Leukemia (ALL). Cancer Res 61: 3570-3572.
25. Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, et al. 1998. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93: 467-476.