Download Molecular Epidemiology of Cancer

Molecular Epidemiology of Cancer
1. Human genome epidemiology, progress and future. J Biomed Res,
2013,27(3):167-169
Hongbing Shena,b, Guangfu Jina,b
a
Department of Epidemiology and Biostatistics, School of Public Health, Nanjing
Medical University, Nanjing, Jiangsu 210029, China;
b
Section of Clinical Epidemiology, Jiangsu Key Lab of Cancer Biomarkers,
Prevention and Treatment, Cancer Center, Nanjing Medical University, Nanjing,
Jiangsu 210029, China.
http://www.jbr-pub.org/ch/reader/view_abstract.aspx?file_no=JBR130301&flag=1
2. Bladder cancer epidemiology and genetic susceptibility. J Biomed Res,
2013,27(3):170-178
Haiyan Chua,b, Meilin Wanga,b, Zhengdong Zhanga,b
a
Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer
Biomarkers, Prevention and Treatment, Cancer Center, Nanjing Medical University,
Nanjing, Jiangsu 211166, China;
b
Department of Genetic Toxicology, the Key Laboratory of Modern Toxicology of
Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing,
Jiangsu 211166, China.
Abstract: Bladder cancer is the most common malignancy of the urinary system. The
incidence of bladder cancer of men is higher than that of women (approximately 4:1).
Here, we summarize the bladder cancer-related risk factors, in-cluding environmental
and genetic factors. In recent years, although the mortality rate induced by bladder
cancer has been stable or decreased gradually, the public health effect may be
pronounced. The well-established risk fac-tors for bladder cancer are cigarette
smoking and occupational exposure. Genetic factors also play important roles in the
susceptibility to bladder cancer. A recent study demonstrated that hereditary
non-polyposis colorectal cancer is associated with increased risk of bladder cancer.
Since 2008, genome-wide association study (GWAS) has been used to identify the
susceptibility loci for bladder cancer. Further gene-gene or gene-environment
interaction stud-ies need to be conducted to provide more information for the etiology
of bladder cancer.
http://www.jbr-pub.org/ch/reader/view_abstract.aspx?file_no=JBR130303&flag=1
3. Molecular epidemiology of DNA repair gene polymorphisms and head and
neck cancer. J Biomed Res, 2013,27(3):179-192
Meilin Wanga,b, Haiyan Chua,b, Zhengdong Zhanga,b, Qingyi Weic
a
Department of Genetic Toxicology, the Key Laboratory of Modern Toxicology of
Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing,
Jiangsu 211166, China;
b
Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer
Biomarkers, Prevention and Treatment, Cancer Center, Nanjing Medical University,
Nanjing, Jiangsu 211166, China;
c
Department of Epidemiology, the University of Texas M. D. Anderson Cancer Center,
Houston, Texas, USA.
Abstract: Although tobacco and alcohol consumption are two common risk factors of
head and neck cancer (HNC), other specific etiologic causes, such as viral infection
and genetic susceptibility factors, remain to be understood. Human DNA is often
damaged by numerous endogenous and exogenous mutagens or carcinogens, and
genetic variants in interaction with environmental exposure to these agents may
explain interindividual differences in HNC risk. Single nucleotide polymorphisms
(SNPs) in genes involved in the DNA damage-repair response are reported to be risk
factors for various cancer types, including HNC. Here, we reviewed epidemiological
studies that have assessed the associations between HNC risk and SNPs in DNA
repair genes involved in base-excision repair, nucleotide-excision repair, mismatch
repair, double-strand break repair and direct reversion repair pathways. We found,
however, that only a few SNPs in DNA repair genes were found to be associated with
significantly increased or decreased risk of HNC, and, in most cases, the effects were
moderate, depending upon locus-locus interactions among the risk SNPs in the
pathways. We believe that, in the presence of exposure, additional pathwaybased
analyses of DNA repair genes derived from genome-wide association studies (GWASs)
in HNC are needed.
http://www.jbr-pub.org/ch/reader/view_abstract.aspx?file_no=JBR130304&flag=1
4. Effect of EME1 exon variant Ile350Thr on risk and early onset of breast
cancer in southern Chinese women. J Biomed Res, 2013,27(3):193-201
Jianwei Zhaoa,b, Lin Liuc, Anqing Zhangd, Qin Chene, Wenxiang Fanga, Lizhi Zenge,
Jiachun Lua
a
The Institute for Chemical Carcinogenesis, the State Key Lab of Respiratory Disease,
Guangzhou Medical University, Guangzhou, Guangdong 510182, China;
b
Baiyun Women and Children Hospital, Guangzhou, Guangdong 510400, China;
c
The Second Affiliated of Guangzhou Medical University, Guangzhou, Guangdong
510260, China;
d
Breast Disease Center, Guangdong Women and Children Hospital, Guangzhou,
Guangdong 511400, China;
e
College of Nursing, Guangzhou Medical University, Guangzhou, Guangdong 510182,
China.
Abstract: Essential meiotic endonuclease 1 homolog 1 (EME1) is a key DNA repair
protein that participates in the rec-ognition and repair of DNA double-strand breaks.
Deficiency of the EME1 gene can lead to spontaneous genomic instability and thus
contribute to tumorgenesis. We hypothesized that the exon variants of EME1 confer
genetic susceptibility to breast cancer. In a case-control study of 748 breast cancer
patients and 778 normal controls, we analyzed the association between two exon
variants of EME1 (i.e.,Ile350Thr: rs12450550T > C and Glu69Asp: rs3760413T > G)
and breast cancer risk. We found that compared to the common Ile/Ile genotype, the
Thr variant genotypes (Thr/Ile + Thr/Thr) conferred a 1.47-fold increased risk of
breast cancer (OR=1.47, 95% CI=1.13-1.92). The variant Ile350Thr was also
associated with early onset of breast cancer (r = -0.116, P = 0.002). The mean age of
onset was 44.4 years for Thr/Thr genotype carriers and 46.5 years for Thr/Ile
genotype carriers, which was significantly lower than that (49.4 years) for Ile/Ile
genotype carriers (P = 0.006). Moreover, no significant as-sociation was observed
between the Glu69Asp variant and breast cancer risk. Our findings suggest that the
EME1 variant Ile350Thr contributes to an increased risk and early onset of breast
cancer.
http://www.jbr-pub.org/ch/reader/view_abstract.aspx?file_no=JBR130305&flag=1
5. Expression of cytochrome P450 2A13 in human non-small cell lung cancer
and its clinical significance. J Biomed Res, 2013,27(3):202-207
Li Sun , Xiaoli Fan
Department of Histology and Embryology, College of Basic Medicine of Guilin
Medicial University, Guilin, Guangxi 541004, China.
Abstract: Lung cancer is one of the most important causes of cancer-related mortality
worldwide. Human cytochrome P450 2A13 enzyme (CYP2A13) is predominantly
expressed in the respiratory tract and could catalyze various carcinogens. In this study,
we quantified CYP2A13 expression in non-small cell lung cancer (NSCLC) tissues
and examined the relation between CYP2A13 and clinicopathologic factors.
Thirty-five paired lung cancer and normal tissues were studied for the expression of
the CYP2A13 gene by using real-time PCR and Western blot-ting assays. We also
investigated the relationship between CYP2A13 expression and clinicopathologic
factors such as age, gender, histology and lymph node status in tumor tissues. SPSS
(17.0) statistical software was applied for data analysis. The real-time PCR results
showed that there was no significant difference in the CYP2A13 mRNA transcript
levels between tumor and paired normal tissues in the 35 samples and in 12 paired
squamous cell car-cinomas. In adenocarcinoma, the expression of CYP2A13 mRNA
in tumor tissues was 12.5% of that in adjacent tissues (P < 0.05) and it was not
associated with age, gender, histology and lymph node status of the patients. The
amounts of CYP2A13 proteins detected by Western blotting assays correlated well
with those of the correspond-ing mRNAs. In conclusion, the expression of CYP2A13
was downregulated in lung adenocarcinoma. CYP2A13 may be involved in the
development and progression of lung adenocarcinoma.
http://www.jbr-pub.org/ch/reader/view_abstract.aspx?file_no=JBR130306&flag=1
6. Genome-wide analysis of runs of homozygosity identifies new susceptibility
regions of lung cancer in Han Chinese. J Biomed Res, 2013,27(3):208-214
Cheng Wanga, Zhengfeng Xub, Guangfu Jina,c,d, Zhibin Hua,c,d, Juncheng Daia,
Hongxia Maa, Yue Jianga, Lingmin Hua, Minjie Chua, Songyu Caoa, Hongbing
Shena,c,d
a
Department of Epidemiology and Biostatistics and Ministry of Education (MOE)
Key Lab for Modern Toxicology, School of Public Health, Nanjing Medical
University, Nanjing, Jiangsu 210029, China;
b
Center of Prenatal Diagnosis, Nanjing Maternal and Child Health Hospital of
Nanjing Medical University, Nanjing, Jiangsu 210004, China;
c
State Key Laboratory of Reproductive Medicine, Nanjing Medical University,
Nanjing, Jiangsu 210029, China;
d
Section of Clinical Epidemiology, Jiangsu Key Laboratory of Cancer Biomarkers,
Prevention and Treatment, Cancer Center, Nanjing Medical University, Nanjing,
Jiangsu 210029, China.
Abstract: Runs of homozygosity (ROHs) are a class of important but poorly studied
genomic variations and may be in-volved in individual susceptibility to diseases. To
better understand ROH and its relationship with lung cancer, we performed a
genome-wide ROH analysis of a subset of a previous genome-wide case-control study
(1,473 cases and 1,962 controls) in a Han Chinese population. ROHs were classified
into two classes, based on lengths, intermedi-ate and long ROHs, to evaluate their
association with lung cancer risk using existing genome-wide single nucleotide
polymorphism (SNP) data. We found that the overall level of intermediate ROHs was
significantly associated with a decreased risk of lung cancer (odds ratio = 0.63; 95%
confidence interval: 0.51-0.77; P = 4.78×10-6 ), while the long ROHs seemed to be a
risk factor of lung cancer. We also identified one ROH region at 14q23.1 that was
con-sistently associated with lung cancer risk in the study. These results indicated that
ROHs may be a new class of variation which may be associated with lung cancer risk,
and genetic variants at 14q23.1 may be involved in the development of lung cancer.
http://www.jbr-pub.org/ch/reader/view_abstract.aspx?file_no=JBR130307&flag=1
7. Genetic variants in pseudogene E2F3P1 confer risk for HBV-related
hepatocellular carcinoma in a Chinese population. J Biomed Res,
2013,27(3):215-219
Li Liua,b, Yao Liuc, Jibin Liub, Xiangjun Zhaid, Juan Wenc, Kaipeng Xiec, Hongbing
Shenc, Zhibin Huc, Zhining Fana
a
Institute of Digestive Endoscopy and Medical Center for Digestive Diseases, the
Second Affiliated Hospital, Nanjing Medical University, Nanjing, Jiangsu 210011,
China;
b
Department of Hepatobiliary Surgery, Nantong Tumor Hospital, Nantong, Nantong,
Jiangsu 226361, China;
c
MOE Key Laboratory of Modern Toxicology, Jiangsu Key Laboratory of Cancer
Biomarkers, Prevention, and Treatment, and State Key Laboratory of Reproductive
Medicine, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu
210029, China;
d
Department of Infection Diseases, Jiangsu Province Center for Disease Prevention
and Control, Nanjing, Jiangsu 210009, China.
Abstract: Recent studies showed that pseudogenes can regulate the expression of their
coding gene partners by competing for miRNAs. The E2F family plays a crucial role
in the control of cell cycle checkpoint. E2F3P1 is a pseudogene of E2F3. Few studies
focused on genetic variations on pseudogenes. In this study, we performed a
case-control study to assess the association between single nucleotide polymorphisms
(SNPs) in E2F3P1 and hepatocellular carcinoma (HCC) risk in 1050 hepatitis B virus
(HBV)-positive HCC cases and 1050 chronic HBV carriers. Logistic regres-sion
analysis was applied to estimate odds ratios (ORs) and 95% confidence intervals (CIs)
for the associations between genotypes and HCC risk. We found that the variant
CT/TT genotypes of rs1838149 were associated with a significantly decreased risk of
HCC (adjusted OR = 0.66, 95% CIs = 0.51-0.86, P = 0.002) compared to those with
wildtype CC homozygote. Furthermore, the AA genotype of rs9909601 had an
increased HCC risk with an adjusted OR of 1.41 (95% CIs = 1.07-1.86), and the A
allele of rs9909601 was significantly associated with HCC risk com-pared to those
with the G allele (adjusted OR = 1.17, 95% CIs = 1.03-1.33, P = 0.017). These results
indicate that genetic variations in the pseudogene E2F3P1 may confer HCC risk.
http://www.jbr-pub.org/ch/reader/view_abstract.aspx?file_no=JBR130308&flag=1
8. Prognostic value of MET, cyclin D1 and MET gene copy number in
non-small cell lung cancer. J Biomed Res, 2013,27(3):220-230
Wenze Sun, Liping Song , Ting Ai, Yingbing Zhang, Ying Gao, Jie Cui
Department of Radiation Oncology, the First Affiliated Hospital of Medical College,
Xi'an Jiaotong University, Xi'an, Shaanxi 710061, China.
Abstract: The aim of this study was to analyze the correlation of the expression of
MET and cyclin D1 and MET gene copy number in non-small cell lung cancer
(NSCLC) tissues and patient clinicopathologic characteristics and sur-vival. Sixty-one
NSCLC tissue specimens were included in the study. The expression of MET and
cyclin D1 was evaluated by immunohistochemistry and MET gene copy number was
assessed by quantitative real-time polymer-ase chain reaction (Q-PCR). Positive
expression of MET and cyclin D1 protein and increased MET gene copy number
occurred in 59.0%, 59.0% and 18.0% of 61 NSCLC tissues, respectively.
MET-positivity correlated with poor differentiation (P = 0.009). Increased MET gene
copy number was significantly associated with lymph node metastasis (P = 0.004) and
advanced tumor stage (P = 0.048), while the expression of cyclin D1 was not
associ-ated with any clinicopathologic parameters. There was a significant correlation
between the expression of MET and MET gene copy number (P = 0.002).
Additionally, the expression of cyclin D1 had a significant association with the
expression of MET as well as MET gene copy number (P = 0.002 and P = 0.017,
respectively). MET-positivity and increased MET gene copy number were
significantly associated with poor overall survival (P = 0.003 and P < 0.001,
respectively) in univariate analysis. Multivariate Cox proportional hazard analysis
confirmed that the expression of MET and MET gene copy number were prognostic
indicators of NSCLC (P = 0.003 and P = 0.001, respectively). The overexpression of
MET and the increased MET gene copy number might be adverse prognostic factors
for NSCLC patients. The activation of the MET/cyclin D1 signaling pathway may
contribute to carcino-genesis and the development of NSCLC, and may represent a
target for therapy.
http://www.jbr-pub.org/ch/reader/view_abstract.aspx?file_no=JBR130309&flag=1