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

• Autorzy: Maurer M , Hoffmann K , Sperling K , Varon R
• Języki publikacji: EN

Abstrakty

EN

Nijmegen breakage syndrome (NBS), a rare autosomal recessive chromosomal instability disorder, is caused by mutations in the NBN gene. Most patients known so far are of Slavic origin and carry the major founder mutation c.657-661del5. Due to an unexpectedly high incidence of NBS patients (homozygous for the c.657-661 del5 mutation) in a Northeast Bavarian region in Southeast Germany, we estimated the prevalence of this mutation in this area and compared itto another German region. We found a high carrier frequency of 1/176 for the c.657-661 del5 mutation among newborns in Northeast Bavaria, while the frequency of the mutation in Berlin was 1/990. We further studied families from a Slavic population isolate, the Sorbs, in the Lusatian region in Northeast Saxony, and revealed a prevalence of thee.657-661 del5 mutation of 1/34. Whereas the Slavic origin of the Sorbs has been known, we attribute the surprisingly high frequencies of c.657-661 del5 mutation in Bavaria (similar to frequencies of this mutation in various Eastern European countries) to a high percentage of people of Slavic origin in Northeast Bavaria.

Słowa kluczowe

PL

Nijmegen breakage syndrome; prevalence; NBN gene; gene mutation; German region; Bavaria; cancer predisposition; high cancer predisposition; patient

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2010
• Tom: 51
• Numer: 2
• Strony: 211-214
• Opis fizyczny: p.211-214,ref.

Twórcy

autor

Maurer M

• Institute of Human Genetics, Charite University Hospital, Charite Medical University, Augustenburger Platz 1, 13353 Berlin, Germany

autor

Hoffmann K

• Institute of Human Genetics, Charite University Hospital, Charite Medical University, Augustenburger Platz 1, 13353 Berlin, Germany

autor

Sperling K

• Institute of Human Genetics, Charite University Hospital, Charite Medical University, Augustenburger Platz 1, 13353 Berlin, Germany

autor

Varon R

• Institute of Human Genetics, Charite University Hospital, Charite Medical University, Augustenburger Platz 1, 13353 Berlin, Germany

Bibliografia

• Bogdanova N, Feshchenko S, Schürmann 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.
• 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.
• 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.
• Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR 3rd, et al. 1998. The hMrel l/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93: 477-486.
• Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Białecka M, Gutkowska A, Goryluk- Kozakiewicz B, et al. 1995. Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. Am J Med Genet 57: 462-471.
• Cybulski C, Górski B, Debniak T, Gliniewicz B, Mierzejewski M, Masojć B, et al. 2004. NBSl is a prostate cancer susceptibility gene. Cancer Res 64: 1215-1219.
• Czornak K, Chughtai S, Chrzanowska KH, 2008. Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA repair. J Appl Genet 49: 383-396.
• Dembowska-Baginska B, Perek D, Brozyna A, Wakulinska A, Olczak-Kowalczyk D, Gladkowska- Dura M, et al. 2009. Non-Hodgkin lymphoma (NHL) in children with Nijmegen breakage syndrome (NBS). Pediatr Blood Cancer 52: 186-190.
• Dębniak 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 of the skin. Melanoma Res 13: 365-370.
• Difilippantonio S, Celeste A, Fernandez-Capetillo O, Chen HT, Reina San Martin B, Van Laethem F, et al. 2005. Role of Nbsl in the activation of the Atm kinase revealed in humanized mouse models. Nat Cell Biol 7: 675-685.
• 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.
• 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.
• 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.
• Hiel JA, 2000. The International Nijmegen Breakage Syndrome Study Group. Nijmegen breakage syndrome. Arch Dis Child 82: 400-406.
• 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.
• 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.
• 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. Radiat Res 157: 312-321.
• 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.
• 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.
• Seidemann K, Henze G, Beck JD, Sauerbrey A, Kühl J, Mann G, Reiter A, 2000. Non-Hodgkin's lymphoma in pedriatic patients with chromosomal breakage syndromes (AT and NBS): experience form the BFM trials. Ann Oncol 11: 141-145.
• 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.
• 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.
• Steffen J, Varon R, Mosor M, Maneva G, Maurer M, Stumm M, et al. 2004. Increased cancer risk of heterozygotes with NBSl germline mutations in Poland. Int J Cancer 111: 67-71.
• 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.
• 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.