Association between DNA Repair Gene Polymorphisms and p53 Alterations in Japanese Patients with Muscle-Invasive Bladder Cancer

Pathobiology ◽  
2006 ◽  
Vol 73 (6) ◽  
pp. 295-303 ◽  
Author(s):  
Shigeru Sakano ◽  
Hiroaki Matsumoto ◽  
Yoshiaki Yamamoto ◽  
Yoshihisa Kawai ◽  
Satoshi Eguchi ◽  
...  
2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Jie Yang ◽  
Zhongyu Jian ◽  
Pengfei Shen ◽  
Yunjin Bai ◽  
Yin Tang ◽  
...  

The proinflammatory chemokine interleukin-32 is related to various diseases, including cancer. However, it has never been associated with bladder cancer (BC). To detect whether there is a relationship between the IL-32 gene polymorphisms (rs12934561 C/T and rs28372698 T/A) and BC, the study enrolled 170 non-muscle-invasive bladder cancer (NMIBC) patients, 151 muscle-invasive bladder cancer (MIBC) patients, and 437 healthy controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for the IL-32 single-nucleotide polymorphism (SNP) genotyping. Statistical analysis was performed using SNPstats online analysis software and SPSS software. Our data revealed that the CC homozygous genotype of rs12934561 in BC patients was significantly higher than that in controls ( P = 0.03 , OR = 1.47 , 95 % CI = 1.04 ‐ 2.08 ), and the percentage of TC genotype carriers was relatively less than that of controls ( P = 0.001 , OR = 0.61 , 95 % CI = 0.45 ‐ 0.82 ). Furthermore, the TT homozygous genotype of rs28372698 was associated with a significantly lower overall survival rate in MIBC patients ( P = 0.028 , OR = 2.77 , 95 % CI = 1.11 ‐ 6.90 ). The IL-32 gene polymorphism rs12934561 might be associated with increased BC risk, and the rs28372698 might participate in the prognosis of BC patients. Therefore, they could be potential forecasting factors for the prognosis of MIBC patients.


2020 ◽  
Vol 38 (6_suppl) ◽  
pp. 431-431
Author(s):  
Yoshiaki Yamamoto ◽  
Sho Ozawa ◽  
Masahiro Samoto ◽  
Junichi Mori ◽  
Ryo Inoue ◽  
...  

431 Background: Bacillus Calmette-Guerin (BCG) intravesical instillation is the most effective immunotherapy for non-muscle-invasive bladder cancer (NMIBC), however there are few reliable markers to elucidate the efficacy of BCG therapy. Germline copy number polymorphisms (CNPs) are expected to affect various diseases including human malignancies, but the significance of CNPs in NMIBC treated with BCG therapy remains unclear. FAM81A located on 15q22.2 was reported as one of tumor-associated ETS shared target genes in prostate cancer. PCSK6 located on 15q26.3 was reported to regulate proliferation and tumor progression in several cancers. The purpose of this study is to determine the prognostic value of CNPs for NMIBC treated with BCG therapy. To our knowledge, this is the first report to confirm CNPs as a potential biomarker for assessing the efficacy of immunotherapy. Methods: Array comparative genomic hybridization (CGH) was performed to search for candidate whole genome-wide CNPs related to NMIBC susceptibility. Next, quantitative real-time polymerase chain reaction was carried out to evaluate the effect of BCG therapy for 57 Japanese patients with NMIBC treated with BCG intravesical instillation. Results: Eleven CNPs were associated with NMIBC risk in array CGH. FAM81A and PCSK6 copy number according to those CNPs examined showed significant relationship with disease progression in NMIBC treated with BCG. The means of the relative copy numbers of patients with CNP and those without it were 1.58 and 2.10 for FAM81A ( P < 0.0001), and 1.06 and 1.80 for PCSK6 ( P < 0.0001), respectively. Univariate Cox proportional hazards regression analysis showed that FAM81A ( P = 0.0022), and PCSK6 ( P = 0.0147) copy number had a significant effect on progression-free survival. In multivariate analyses, FAM81A copy number was an independent prognostic factor for progression-free survival ( P = 0.0419, RR = 7.59, 95% CI, 1.07–153.42). The combination of FAM81A or PCSK6 CNP was the most significant prognostic biomarker to predict the efficacy of BCG therapy for NMIBC ( P = 0.0002). Conclusions: Germline DNA CNPs may be a potential new biomarker for estimating the efficacy of BCG therapy in Japanese patients with NMIBC.


2013 ◽  
Vol 189 (4S) ◽  
Author(s):  
Timothy F. Donahue ◽  
S. Machele Donat ◽  
Himali Patel ◽  
Joanne F. Chou ◽  
Sharon Bayuga ◽  
...  

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