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Last Posted: Aug 04, 2023

• Germline Genetic NBN Variation and Predisposition to B-cell Acute Lymphoblastic Leukemia in Children.
  Jun Yang, et al. Research square 2023 0
• Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.
  Boyarchuk Oksana et al. Frontiers in immunology 2022 13999664
• Spectrum of Hematological Malignancies, Clonal Evolution and Outcomes in 144 Mayo Clinic Patients with Germline Predisposition Syndromes.
  St Martin Emma et al. American journal of hematology 2021
• Association of Nijmegen Breakage Syndrome 1 Genotypes With Bladder Cancer Risk.
  Chen Meng, et al. Anticancer research 2020 4 (4) 2011-2017
• Chromosome instability syndromes.
  Taylor A Malcolm R et al. Nature reviews. Disease primers 2019 Sep 5(1) 64
• Association of Single-Nucleotide Polymorphisms in Monoubiquitinated FANCD2-DNA Damage Repair Pathway Genes With Breast Cancer in the Chinese Population.
  Chen Fei-Yu, et al. Technology in cancer research & treatment 2018 1 1533033818819841
• NBS1 rs2735383 polymorphism is associated with an increased risk of laryngeal carcinoma.
  Hu Xinmei, et al. BMC cancer 2018 0 (1) 175
• A non-synonymous polymorphism in NBS1 is associated with progression from chronic hepatitis B virus infection to hepatocellular carcinoma in a Chinese population.
  Zhen Ya'nan, et al. OncoTargets and therapy 2018 0 563-569
• Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
  Walsh Michael F et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(11) e23-e31
• Contribution of Double-strand Break Repair Gene Nijmegen Breakage Syndrome 1 Genotypes, Gender Difference and Smoking Status to Taiwanese Lung Cancer.
  Chuang Chin-Liang, et al. Anticancer research 2017 0 (5) 2417-2423
• Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies.
  Gao Ping, et al. Mutagenesis 2013 11 (6) 683-97
• Association between the NBS1 Glu185Gln polymorphism and lung cancer risk: a systemic review and meta-analysis.
  Wang Lixin, et al. Molecular biology reports 2013 3 (3) 2711-5
• Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk.
  Zhang Guofeng, et al. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2013 10 (5) 2753-7
• Association between the NBS1 Glu185Gln polymorphism and breast cancer risk: a meta-analysis.
  Yao F, et al. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2013 2
• Current evidence on the relationship between two polymorphisms in the NBS1 gene and breast cancer risk: a meta-analysis.
  Zhang Zhi-Hua, et al. Asian Pacific journal of cancer prevention : APJCP 2012 0 (11) 5375-9
• Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer.
  Zuhlke KA, et al. Familial cancer 2012 8
• Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.
  Borte Stephan, et al. Blood 2012 3 (11) 2552-5
• Role of 657del5 NBN mutation and 7p12.2 (IKZF1), 9p21 (CDKN2A), 10q21.2 (ARID5B) and 14q11.2 (CEBPE) variation and risk of childhood ALL in the Polish population.
  Pastorczak Agata, et al. Leukemia research 2011 11 (11) 1534-6
• [Heterozygous carriers of Slavic mutation 657del5 of NBN gene in patients with colorectal cancer].
  Seemanová Eva, et al. Casopís lékar?? c?eských 2011 0 (2) 97-9
• [Study on the association between DNA double-strand break repair gene NBS1 polymorphisms and susceptibility on lung cancer].
  Fan Li-hui, et al. Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi 2010 2 (2) 213-7
• Nijmegen breakage syndrome
  From NCATS Genetic and Rare Diseases Information Center
• High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany.
  Maurer M H, et al. Journal of applied genetics 2010 0 (2) 211-4
• Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.
  Ciara El?bieta, et al. Acta neuropathologica 2010 3 (3) 325-34
• Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer.
  Desjardins Sylvie, et al. BMC cancer 2009 0 (1) 181
• NBN 657del5 heterozygous mutations and colorectal cancer risk in the Czech Republic.
  Pardini Barbara, et al. Mutation research 2009 6 (1-2) 64-7
• Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations.
  Watanabe Takuya, et al. Journal of neuropathology and experimental neurology 2009 2 (2) 210-5
• Mutations in the Nijmegen breakage syndrome gene in medulloblastomas.
  Huang Jian, et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2008 7 (13) 4053-8
• Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours.
  Nowak Jerzy, et al. European journal of cancer (Oxford, England : 1990) 2008 3 (4) 627-30
• Cancer risk of heterozygotes with the NBN founder mutation.
  Seemanová Eva, et al. Journal of the National Cancer Institute 2007 12 (24) 1875-80
• Nijmegen Breakage Syndrome mutations and risk of breast cancer.
  Bogdanova Natalia, et al. International journal of cancer. Journal international du cancer 2008 2 (4) 802-6
• I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer.
  Roznowski Krzysztof, et al. Breast cancer research and treatment 2008 7 (2) 343-8
• Role of MTHFR (677, 1298) haplotype in the risk of developing secondary leukemia after treatment of breast cancer and hematological malignancies.
  Guillem V M, et al. Leukemia 2007 7 (7) 1413-22
• Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation.
  Steffen Jan, et al. International journal of cancer. Journal international du cancer 2006 12 (12) 2970-3
• Polymorphisms and haplotypes of the NBS1 gene are associated with risk of sporadic breast cancer in non-Hispanic white women <or=55 years.
  Lu Jiachun, et al. Carcinogenesis 2006 11 (11) 2209-16
• Regional distribution of heterozygous 657del5 mutation carriers of the NBS1 gene in Wielkopolska province (Poland).
  Zió?kowska Iwona, et al. Journal of applied genetics 2006 0 (3) 269-72
• Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer.
  Hebbring Scott J, et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2006 5 (5) 935-8
• Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies.
  Chrzanowska Krystyna H, et al. International journal of cancer. Journal international du cancer 2006 3 (5) 1269-74
• Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland.
  Steffen Jan, et al. International journal of cancer. Journal international du cancer 2004 8 (1) 67-71
• Polymorphisms in DNA repair genes, medical exposure to ionizing radiation, and breast cancer risk.
  Millikan Robert C, et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005 10 (10) 2326-34
• Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers.
  Drábek Jirí, et al. Cancer genetics and cytogenetics 2002 10 (2) 157-9

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