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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
NBN
gene.
Bogdanova N, Feshchenko S, Schürmann P, Waltes R, Wieland B, Hillemanns P, Rogov YI, Dammann O, Bremer M, Karstens JH, Sohn C, Varon R, Dörk T. Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int J Cancer. 2008 Feb 15;122(4):802-6.
PubMed citation
Cheung VG, Ewens WJ. Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype. Genome Res. 2006 Aug;16(8):973-9. Epub 2006 Jun 29.
PubMed citation
Cybulski C, Górski B, Debniak T, Gliniewicz B, Mierzejewski M, Masojć B, Jakubowska A, Matyjasik J, Złowocka E, Sikorski A, Narod SA, Lubiński J. NBS1 is a prostate cancer susceptibility gene. Cancer Res. 2004 Feb 15;64(4):1215-9.
PubMed citation
Entrez
Gene
Gene Review: Nijmegen Breakage
Syndrome
Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Knuutila S, Lundán T, Mannermaa A, Břrresen-Dale AL, Borg A, Barkardottir RB, Petrini J, Winqvist R. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis. 2006 Aug;27(8):1593-9. Epub 2006 Feb 12.
PubMed citation
Kobayashi J, Antoccia A, Tauchi H, Matsuura S, Komatsu K. NBS1 and its functional role in the DNA damage response. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):855-61. Review.
PubMed citation
Krüger L, Demuth I, Neitzel H, Varon R, Sperling K, Chrzanowska KH, Seemanova E, Digweed M. Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein. Carcinogenesis. 2007 Jan;28(1):107-11. Epub 2006 Jul 13.
PubMed citation
Lins S, Kim R, Krüger L, Chrzanowska KH, Seemanova E, Digweed M. Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome. Gene. 2009 Nov 1;447(1):12-7. doi: 10.1016/j.gene.2009.07.013. Epub 2009 Jul 25.
PubMed citation
Pluth JM, Yamazaki V, Cooper BA, Rydberg BE, Kirchgessner CU, Cooper PK. DNA double-strand break and chromosomal rejoining defects with misrejoining in Nijmegen breakage syndrome cells. DNA Repair (Amst). 2008 Jan 1;7(1):108-18. Epub 2007 Oct 4.
PubMed citation
Steffen J, Nowakowska D, Niwińska A, Czapczak D, Kluska A, Piatkowska M, Wiśniewska A, Paszko Z. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer. 2006 Jul 15;119(2):472-5.
PubMed citation
Zhang Y, Zhou J, Lim CU. The role of NBS1 in DNA double strand break repair, telomere stability, and cell cycle checkpoint control. Cell Res. 2006 Jan;16(1):45-54. Review.
PubMed citation
Reviewed: April 2011
Published: May 13, 2013