Inherited NBN Mutations and Prostate Cancer Risk and Survival / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: The purpose of this study was to establish the contribution of four founder alleles of NBN to prostate cancer risk and cancer survival. MATERIALS AND METHODS: Five thousand one hundred eighty-nine men with prostate cancer and 6,152 controls were genotyped for four recurrent variants of NBN (657del5, R215W, I171V, and E185Q). RESULTS: The NBN 657del5 mutation was detected in 74 of 5,189 unselected cases and in 35 of 6,152 controls (odds ratio [OR], 2.5; p < 0.001). In carriers of 657del5 deletion, the cancer risk was restricted to men with the GG genotype of the E185Q variant of the same gene. Among men with the GG genotype, the OR associated with 657del5 was 4.4 (95% confidence interval [CI], 2.4 to 8.0). Among men with other E185Q genotypes, the OR associated with 657del5 was 1.4 (95% CI, 0.8 to 2.4) and the interaction was significant (homogeneity p=0.006). After a median follow-up of 109 months, mortality was worse for 657del5 mutation carriers than for non-carriers (hazard ratio [HR], 1.6; p=0.001). The adverse effect of 657del5 on survival was only seen on the background of the GG genotype of E185Q (HR, 1.9; p=0.0004). CONCLUSION: The NBN 657del5 mutation predisposes to poor prognosis prostate cancer. The pathogenicity of this mutation, with regards to both prostate cancer risk and survival, is modified by a missense variant of the same gene (E185Q).

Effect of Nbn gene on hippocampus development in postnatal mice / 西安交通大学学报(医学版)

Objective To investigate the role of neuro-specific DNA repair gene Nbn in mouse hippocampus development by observing the morphological differences in Nbn-CNS-Del and Nbn-CNS-Ctr mice.Methods Serial sections and stereology were used to quantitatively analyze the development of mouse hippocampus on postnatal day 7,14 and 21.Results Compared with that of the control group,the hippocampus development of Nbn-CNS-Del mice lagged behind.In Nbn-CNS-Del mice,on day 21,the profile area of pyramidal layer of hippocampus and granular layer of dentate gyrus decreased(P

Influence of Nbn gene on the development of granular cells in hippocampus of neonatal mouse / 解放军医学杂志

Objective To investigate the influence of neuro-specific DNA repair gene Nbn on the development of granular cells in hippocampus of monatal mouse. Methods The hippocampus development of postnatal mouse was evaluated by comparing the morphological differences of granular cells in hippocampus between the Nbn gene knockout mice (Nbn-CNS-Del) and the controls (Nbn-CNS-Ctr). Serial sections, immunohistochemistry and stereology methods were used to quantitatively analyze the development of granular cells in hippocampus of mice on the postnatal day 7, 14 and 21 (P7d, P14d and P21d). Results In Nbn-CNS-Ctr group, the granular layer in hippocampus manifested "C" in shape, the section area of granular layer was increased, and so was the cell body of granular cells in hippocampus during P7d to P21d; the inner arm granular cells in granular layer of hippocampus emerged on P7d, and most obvious changes occurred during P7d to P14d. While in Nbn-CNS-Del group, the granular layer in "C" shape were seen to form in most of the specimens during P7d to P21d, though they were sparsely distributed. Compared with that of the mice in Nbn-CNS-Ctr group, the development of granular layer in hippocampus of the mice in Nbn-CNS-Del group lagged obviously, and the sectional area of granular cells decreased significantly (P