Nijmegen Breakage Syndrome
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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
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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