Research Topics
Genomes and Genes
Species | Stephen ChanockSummaryAffiliation: National Institutes of Health Country: USA Publications
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Detail Information
Publications
Patterns of low-affinity immunoglobulin receptor polymorphisms in stroke and homozygous sickle cell diseaseJames G Taylor
Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Gaithersburg, Maryland 20877, USA
Am J Hematol 69:109-14. 2002..0053), suggesting that these two loci could be linked in this population. We conclude that polymorphisms of the low-affinity Fcgamma receptors are not associated with stroke in SS disease...
Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell diseaseJames G Taylor
Section on Genomic Variation, Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Gaithersburg, MD 20877, USA
Blood 100:4303-9. 2002..35, 95% confidence interval [CI] 0.15-0.83, P =.04). Further study is required to confirm the importance of this variant in VCAM1 as a clinically useful modifier of outcome in SS disease...
Genetic variants in caspase genes and susceptibility to non-Hodgkin lymphomaQing Lan
Occupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute NIH, DHHS, Bethesda, MD 20892 7240, USA
Carcinogenesis 28:823-7. 2007..The striking protective associations observed for polymorphisms in all four genes for NHL and/or one or more subtypes suggest that genetic variation in CASP genes may play an important role in the etiology of NHL...
Cis sequence effects on gene expressionAndrew W Bergen
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD USA
BMC Genomics 8:296. 2007....
Genotype frequency and F ST analysis of polymorphisms in immunoregulatory genes in Chinese and Caucasian populationsQing Lan
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA
Immunogenetics 59:839-52. 2007..25). These results suggest that there is substantial genetic diversity in immune genes and exploration of SNP associations with immune-related diseases that vary in incidence across these two populations may be warranted...
Toward mapping the biology of the genomeStephen Chanock
Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Advanced Technology Center, Bethesda, Maryland 20892 4605, USA
Genome Res 22:1612-5. 2012..The success of these papers should not only be measured by the scope of the scientific insights and tools but also by their ability to attract new talent to mine existing and future data...
Phred-Phrap package to analyses tools: a pipeline to facilitate population genetics re-sequencing studiesMoara Machado
Departamento de Biologia Geral, Instituto de Ciencias Biologicas, Universidade Federal de Minas Gerais, Av Antonio Carlos 6627, Pampulha, Caixa Postal 486, Belo Horizonte, MG, CEP 31270 910, Brazil
Investig Genet 2:3. 2011..abstract:..
Genetic variation in PRL and PRLR, and relationships with serum prolactin levels and breast cancer risk: results from a population-based case-control study in PolandSarah J Nyante
Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Rockville, MD 20852, USA
Breast Cancer Res 13:R42. 2011..Thus, we examined the relationship between single nucleotide polymorphisms (SNPs) in PRL and PRLR, serum prolactin levels and breast cancer risk in a population-based case-control study...
A comprehensive analysis of the androgen receptor gene and risk of breast cancer: results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3)David G Cox
Program in Molecular and Genetic Epidemiology, Epidemiology Department, Harvard School of Public Health, 677 Huntington Avenue, Boston, MA 02115, USA
Breast Cancer Res 8:R54. 2006..Here, we report on the results of a large and comprehensive study of the association between genetic variation in the AR gene and risk of breast cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3)...
Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic densityMargarethe Biong
Department of Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Montebello 0310, Oslo, Norway
BMC Med Genomics 3:9. 2010..The associations between genetic polymorphisms in genes from the IGF pathway on mammographic density and circulating levels of IGF1, its binding protein IGFBP3, and their ratio in postmenopausal women are reported here...
MBL2 and hepatitis C virus infection among injection drug usersElizabeth E Brown
Division of Cancer Epidemiology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
BMC Infect Dis 8:57. 2008..We examined whether MBL2 variants influence the outcome of hepatitis C virus (HCV) infection...
High-throughput single nucleotide polymorphism genotyping using nanofluidic Dynamic ArraysJun Wang
Fluidigm Corporation, South San Francisco, CA, USA
BMC Genomics 10:561. 2009..This is also important for those who work on high throughput genotyping in non-model systems where off-the-shelf assays are not available and a flexible platform is needed...
Polymorphism analysis of six selenoprotein genes: support for a selective sweep at the glutathione peroxidase 1 locus (3p21) in Asian populationsCharles B Foster
Section of Pediatric Infectious Diseases, Division of Pediatrics, Desk A120, The Children s Hospital, The Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA
BMC Genet 7:56. 2006....
Genetic polymorphisms of the GNRH1 and GNRHR genes and risk of breast cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3)Federico Canzian
German Cancer Research Center DKFZ, Heidelberg, Germany
BMC Cancer 9:257. 2009..We studied the association between breast cancer risk and polymorphisms in genes that code for GNRH1 and its receptor (GNRHR) in the large National Cancer Institute Breast and Prostate Cancer Cohort Consortium (NCI-BPC3)...
Association of MTHFR gene polymorphisms with breast cancer survivalDamali N Martin
Laboratory of Human Carcinogenesis, Center of Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
BMC Cancer 6:257. 2006..We investigated whether these MTHFR SNPs were associated with breast cancer survival in African-American and Caucasian women...
Effects of DNA mass on multiple displacement whole genome amplification and genotyping performanceAndrew W Bergen
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
BMC Biotechnol 5:24. 2005..A total of N = 6,880 STR and N = 56,448 SNP genotype attempts provided adequate power to detect differences in STR and SNP genotyping performance between gDNA and wgaDNA, and among wgaDNA produced from a range of gDNA templates inputs...
Performance of high-throughput DNA quantification methodsKashif A Haque
Core Genotyping Facility, SAIC Frederick, Inc, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
BMC Biotechnol 3:20. 2003..The effects of manual and robotic laboratory sample handling procedures on the estimates of DNA concentration were assessed using variance components analyses...
A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array dataJuan R Gonzalez
Center for Research in Environmental Epidemiology, Doctor Aiguader 88, Barcelona 08003, Spain
BMC Bioinformatics 12:166. 2011....
Polymorphism Interaction Analysis (PIA): a method for investigating complex gene-gene interactionsLeah E Mechanic
Laboratory of Human Carcinogenesis, National Cancer Institute, NIH, Bethesda, MD, USA
BMC Bioinformatics 9:146. 2008..Investigating associations for each individual SNP or interactions between SNPs using traditional approaches is inefficient and prone to false positives...
High marks for GWASStephen Chanock
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD, USA
Nat Genet 41:765-6. 2009..These studies are notable for the high effect sizes detected and the biological plausibility of the candidate genes...
Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomasStephen J Chanock
Section of Genomic Variation, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892 4605, USA
Breast Cancer Res 9:R5. 2007....
Replicating genotype-phenotype associationsStephen J Chanock
Division of Cancer Epidemiology and Genetics, Bethesda, Maryland 20892-4605, USA
Nature 447:655-60. 2007
Genetic variation in the nucleotide excision repair pathway and bladder cancer riskMontserrat Garcia-Closas
Hormonal and Reproductive Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Room 7076, 6120 Executive Boulevard, MSC 7234, Rockville, MD 20852 7234, USA
Cancer Epidemiol Biomarkers Prev 15:536-42. 2006..A detailed characterization of genetic variation in key NER genes is warranted and might ultimately help identify multiple susceptibility variants that could be responsible for substantial joint increases in risk...
One-carbon metabolism gene polymorphisms and risk of non-Hodgkin lymphoma in AustraliaKyoung Mu Lee
Occupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, 6120 Executive Blvd EPS 8118, Bethesda, MD 20892 7240, USA
Hum Genet 122:525-33. 2007..01). In conclusion, the results of this study suggest that genetic polymorphisms of one-carbon metabolism genes such as MTHFR and TYMS may influence susceptibility to NHL...
Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancerYawei Zhang
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Rockville, Maryland, USA
Cancer Epidemiol Biomarkers Prev 15:353-8. 2006..6; 95% CI, 1.1-2.4; P = 0.02). In conclusion, our results do not support that the polymorphisms evaluated in six BER pathway genes play a major role in breast carcinogenesis, particularly in Caucasian populations...
Smoky coal exposure, NBS1 polymorphisms, p53 protein accumulation, and lung cancer risk in Xuan Wei, ChinaQing Lan
Occupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, MSC 7240, 6120 Executive Blvd, EPS 8109, Bethesda, MD 20892 7240, USA
Lung Cancer 49:317-23. 2005..However, additional studies in other populations with substantial environmental exposures to PAHs are needed to confirm our findings...
Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genesJonine D Figueroa
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Bethesda, MD, USA
Carcinogenesis 29:1955-62. 2008..These results indicate that genetic variation in carcinogen-metabolizing genes, particularly AKR1C3, could be associated with bladder cancer risk...
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinomaMaria Teresa Landi
Division of Cancer Epidemiology, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Am J Hum Genet 85:679-91. 2009..In conclusion, a lung cancer GWAS identified a distinct hereditary contribution to adenocarcinoma...
Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, ChinaMin Shen
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, MSC 7240, 6120 Executive Blvd, Bethesda, Maryland 20892 7240, USA
Environ Mol Mutagen 50:285-90. 2009..Integrin/receptor and complement pathways as well as IgE regulation are particularly noteworthy...
Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphomaQing Lan
Occupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, EPS 8109, Bethesda, MD 20892 7240, USA
Hum Genet 121:161-8. 2007..013), but was also associated with non-significant increased risks for each of the common B-cell histologies. These results suggest that SNPs in genes related to the oxidative stress pathway may be associated with increased risk of NHL...
Genetic variation in the base excision repair pathway and bladder cancer riskJonine D Figueroa
Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, Bethesda, MD, USA
Hum Genet 121:233-42. 2007..24 (1.02-1.51) and 1.30 (1.04-1.62), respectively. In summary, data from this large case-control study suggested bladder cancer risk associations with selected BER SNPs, which need to be confirmed in other study populations...
Polymorphisms in genes involved in DNA double-strand break repair pathway and susceptibility to benzene-induced hematotoxicityMin Shen
Division of Cancer Epidemiology and Genetics, NCI, NIH, DHHS, Bethesda, MD 20892, USA
Carcinogenesis 27:2083-9. 2006..The effect of BRCA2 Ex11 +1487 A > G polymorphism was limited to granulocytes. These results suggest that genetic polymorphisms in WRN, TP53 and BRCA2 that maintain genomic stability impact benzene-induced hematotoxicity...
Genetic variation in tumor necrosis factor and lymphotoxin-alpha (TNF-LTA) and breast cancer riskMia M Gaudet
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
Hum Genet 121:483-90. 2007..Additional studies are required to replicate these findings and to determine whether rs361525 is a causative SNP or is a marker of a causative SNP...
Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer riskJonine D Figueroa
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Bethesda, MD, USA
Carcinogenesis 28:1788-93. 2007..17 (1.00-1.36). Results from this study provide evidence for associations between variants in genes in the DSBR pathway and bladder cancers risk that warrant replication in other study populations...
Common genetic variation in TP53 is associated with lung cancer risk and prognosis in African Americans and somatic mutations in lung tumorsLeah E Mechanic
Laboratory of Human Carcinogenesis, National Cancer Institute, Center for Cancer Research, Bethesda, Maryland 20892 4258, USA
Cancer Epidemiol Biomarkers Prev 16:214-22. 2007..In conclusion, common genetic variation in TP53 could modulate lung cancer pathways, as suggested by the association with lung cancer in African Americans and somatic TP53 mutation frequency in lung tumors...
Polymorphisms in folate metabolic genes and lung cancer risk in Xuan Wei, ChinaMin Shen
Occupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, MSC 7240, 6120 Executive Blvd, Bethesda, MD 20892 7240, USA
Lung Cancer 49:299-309. 2005..002 and P=0.07, respectively). In summary, three genetic variants in folate metabolism genes are associated with an increased risk of lung cancer in Xuan Wei, China...
Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in menJacqueline M Major
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD, USA
J Nutr 142:866-71. 2012..g., α-tocopherol) under supplementation conditions improves our understanding of the biological determinants of these nutritional exposures and their associations with cancer etiology...
Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in ConnecticutMin Shen
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892, USA
Hum Genet 119:659-68. 2006..Further work is needed to extend these findings by carrying out extended haplotype analyses of these and related genes and to replicate the observations in other studies...
Polymorphisms in the DNA nucleotide excision repair genes and lung cancer risk in Xuan Wei, ChinaMin Shen
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 7240, USA
Int J Cancer 116:768-73. 2005..However, due to the small sample size, additional studies are needed to evaluate these associations within Xuan Wei and in other populations with substantial environmental exposure to PAHs...
Apolipoprotein E/C1 locus variants modify renal cell carcinoma riskLee E Moore
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20852, USA
Cancer Res 69:8001-8. 2009..In two large case-control studies, our findings further define a functional region of interest at the APOE locus that increases RCC susceptibility...
Common genetic variation in TP53 and its flanking genes, WDR79 and ATP1B2, and susceptibility to breast cancerMontserrat Garcia-Closas
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA
Int J Cancer 121:2532-8. 2007..However, data suggested that common variation in TP53 or WDR79 could be associated with ER negative breast cancers...
Polymorphisms in DNA repair genes and risk of non-Hodgkin's lymphoma in New South Wales, AustraliaMin Shen
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20892 7240, USA
Haematologica 92:1180-5. 2007..We investigated whether putatively functional single-nucleotide polymorphisms (SNP) in DNA repair genes influence susceptibility to NHL in a population-based case-control study conducted in Australia...
Genomic DNA hypomethylation as a biomarker for bladder cancer susceptibility in the Spanish Bladder Cancer Study: a case-control studyLee E Moore
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Rockville, MD, USA
Lancet Oncol 9:359-66. 2008..DNA hypomethylation has been suggested to cause genomic instability and increase cancer risk. We aimed to test the hypothesis that DNA hypomethylation is associated with increased risk of bladder cancer...
A report of cytokine polymorphisms and COPD risk in Xuan Wei, ChinaMin Shen
Occupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, MSC 7240, 6120 Executive Blvd, Bethesda, MD 20892 7240, USA
Int J Hyg Environ Health 211:352-6. 2008..However, in view of our relatively small sample size, this study should be replicated in other populations with substantial exposure to indoor air pollutants such as polycyclic aromatic hydrocarbons (PAH) and particulate matter...
Genetic variants in DNA repair genes and the risk of cutaneous malignant melanoma in melanoma-prone families with/without CDKN2A mutationsXueying Sharon Liang
Division of Cancer Epidemiology and Genetics, NCI NIH, Bethesda, MD, USA
Int J Cancer 130:2062-6. 2012..Our finding suggests that polymorphisms in DNA repair genes, POLN and PRKDC, were associated with increased melanoma risk in melanoma families with and without CDKN2A mutations...
Polymorphisms in immunoregulatory genes, smoky coal exposure and lung cancer risk in Xuan Wei, ChinaKyoung Mu Lee
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892 7240, USA
Carcinogenesis 28:1437-41. 2007..11, 95% CI = 0.03-0.44; P(interaction) = 0.03). In conclusion, genetic variation in immunoregulatory genes may play an important role in the development of lung cancer in this population...
PTEN identified as important risk factor of chronic obstructive pulmonary diseaseH Dean Hosgood
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Respir Med 103:1866-70. 2009..However, due to the small sample size, additional studies are needed to evaluate these associations within Xuanwei and other populations with coal smoke exposures...
Comprehensive assessment of genetic variation of catechol-O-methyltransferase and breast cancer riskMia M Gaudet
Division of Cancer Epidemiology, National Cancer Institute, 6120 Executive Boulevard, EPS 7055, Rockville, MD 20852, USA
Cancer Res 66:9781-5. 2006..The suggestion of increased risk associated with a haplotype in the 3' UTR of COMT needs to be confirmed in independent study populations...
Genetic variation in metabolic genes, occupational solvent exposure, and risk of non-hodgkin lymphomaKathryn Hughes Barry
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
Am J Epidemiol 173:404-13. 2011..77, 95% CI: 1.06, 2.97; P(interaction) = 0.06). In contrast, no effect was observed among AG/GG women. Additional studies with larger sample size are needed to replicate these findings...
Common single nucleotide polymorphisms in immunoregulatory genes and multiple myeloma risk among women in ConnecticutKyoung Mu Lee
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA
Am J Hematol 85:560-3. 2010..Additional studies are needed to replicate these findings and, more generally, to explore the manner in which genes and receptors may influence the pathogenesis of this poorly understood malignancy...
Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutationsXiaohong Rose Yang
Division of Cancer Epidemiology and Genetics, NCI NIH DHHS, Bethesda, MD, USA
Fam Cancer 9:625-33. 2010..These genetic variants may, at least partially, exert their effects through nevi and tanning ability...
Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancerLee E Moore
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD, USA
Int J Cancer 120:2452-8. 2007..Additional work is needed to comprehensively evaluate genomic variation in CTH and related genes in the trans-sulfuration pathway and bladder cancer risk...
Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, ChinaGabriella Andreotti
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, 6120 Executive Boulevard, EPS 8011, MSC 7240, Bethesda, MD 20892, USA
Cancer Epidemiol Biomarkers Prev 17:525-34. 2008..5-fold risk of bile duct cancer. Our findings suggest that gene variants in the lipid metabolism pathway contribute to the risk of biliary tract stones and cancers, particularly of the bile duct...
Inflammation-related gene polymorphisms and colorectal adenomaMarc J Gunter
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland, USA
Cancer Epidemiol Biomarkers Prev 15:1126-31. 2006..7; 95% CI, 0.3-1.5; P(interaction) = 0.01). These exploratory data provide evidence that polymorphic variation in genes that regulate inflammation could alter risk for colorectal adenoma...
Green tea consumption, genetic susceptibility, PAH-rich smoky coal, and the risk of lung cancerMatthew R Bonner
Division of Cancer Epidemiology and Genetics, Occupational and Environmental Epidemiology Branch, National Cancer Institute, NIH, DHHS, 6120 Executive Blvd, EPS 8121, MSC 7240, Bethesda, MD 20892 7240, USA
Mutat Res 582:53-60. 2005..The chemopreventive effects of green tea in this population may be restricted to individuals who are particularly susceptible to oxidative stress and oxidative DNA damage...
HSD17B1 genetic variants and hormone receptor-defined breast cancerMia M Gaudet
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA
Cancer Epidemiol Biomarkers Prev 17:2766-72. 2008..Associations between HSD17B1 genotypes and risk for ER- breast cancer were inconsistent across studies and should be studied further...
Common genetic variation in GATA-binding protein 3 and differential susceptibility to breast cancer by estrogen receptor alpha tumor statusMontserrat Garcia-Closas
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, 6120 Executive Boulevard, Room 7076, MSC 7234, Rockville, MD 20852 7234, USA
Cancer Epidemiol Biomarkers Prev 16:2269-75. 2007..These differential associations are consistent with markedly different levels of GATA3 protein by ER status. Additional epidemiologic studies are needed to clarify these intriguing relationships...
Genetic variation of Cytochrome P450 1B1 (CYP1B1) and risk of breast cancer among Polish womenMia M Gaudet
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Bethesda, Maryland 20852, USA
Pharmacogenet Genomics 16:547-53. 2006..The present study provides strong evidence against the existence of a substantial overall association between common genetic variation in CYP1B1 and breast cancer risk...
Genetic variation in hormone metabolizing genes and risk of testicular germ cell tumorsJonine D Figueroa
Department of Health and Human Services, National Cancer Institute, Bethesda, MD, USA
Cancer Causes Control 19:917-29. 2008..02. Caution in interpretation is warranted until findings are replicated in other studies; however, the results suggest that genetic variation in CYP1A1 may be associated with nonseminoma...
Occupational trichloroethylene exposure and renal carcinoma risk: evidence of genetic susceptibility by reductive metabolism gene variantsLee E Moore
Division of Cancer Epidemiology and Genetics, NIH, National Cancer Institute, NIH, Bethesda, Maryland 20852, USA
Cancer Res 70:6527-36. 2010....
Genetic variation in CYP17 and endometrial cancer riskMia M Gaudet
National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Hum Genet 123:155-62. 2008..Further evaluation in consortia is necessary to confirm potential weak associations between common variation in CYP17 and endometrial cancer risk and to address the concern of publication bias...
Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicityQing Lan
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Carcinogenesis 30:50-8. 2009..Our findings suggest that SNPs involved in DNA repair and genomic maintenance, with particular clustering in the homologous DNA recombination pathway, play an important role in benzene-induced hematotoxicity...
Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in ChinaSue K Park
Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, EPS 5024, MSC 7234, Bethesda, MD 20892 7234, USA
Carcinogenesis 30:606-14. 2009..1-4.9; P-interaction = 0.05) was statistically significant. Our findings suggest that common variants in hormone-related genes contribute to the risk of biliary tract cancers and stones, possibly by modulating hormone metabolism...
Genetic variation in N-acetyltransferases 1 and 2, cigarette smoking, and risk of non-Hodgkin lymphomaBriseis A Kilfoy
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD, USA
Cancer Causes Control 21:127-33. 2010..We conclude that these findings require replication in larger studies and ultimately in pooled analyses...
Genetic variation in sodium-dependent vitamin C transporters SLC23A1 and SLC23A2 and risk of advanced colorectal adenomaHans Christian Erichsen
Section on Genomic Variation, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892 4605, USA
Nutr Cancer 60:652-9. 2008..49, 95% confidence interval = 0.25-0.95 for haplotype G-C vs. haplotype C-C). The findings should be confirmed in follow-up studies, and further investigation is required to probe the functional basis of this finding...
Genetic background comparison using distance-based regression, with applications in population stratification evaluation and adjustmentQizhai Li
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
Genet Epidemiol 33:432-41. 2009....
Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expressionMelissa Rotunno
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS ONE 4:e5652. 2009..Our findings emphasize the necessity of post-GWAS fine mapping and SNP functional assessment to further elucidate cancer risk associations...
Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphomaQing Lan
Occupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH DHHS, MSC 7240, 6120 Executive Blvd, EPS 8109, Bethesda, MD 20892 7240, USA
Blood 107:4101-8. 2006..84; 95% CI = 1.79-8.22; P < .001). Further, the IL10 and IL4 SNP associations remained significant after adjusting for multiple comparisons. These results suggest that SNPs in Th2 cytokine genes may be associated with risk of NHL...
Caspase polymorphisms and genetic susceptibility to multiple myelomaH Dean Hosgood
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 7240, USA
Hematol Oncol 26:148-51. 2008..The protective associations observed in two key caspase genes suggest that genetic variation in CASP genes may play an important role in the aetiology of multiple myeloma...
Polymorphisms in the DNA base excision repair genes APEX1 and XRCC1 and lung cancer risk in Xuan Wei, ChinaMin Shen
Occupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland 20892 7240, USA
Anticancer Res 25:537-42. 2005..34; 95% CI: 1.16-9.67). We found genetic variants in APEX1 and XRCC1 may alter the risk of lung cancer in a special population in China...
Genetic variation in the androgen receptor gene and endometrial cancer riskHannah P Yang
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD, USA
Cancer Epidemiol Biomarkers Prev 18:585-9. 2009..Results from our study, taken together with previously published studies, provide little evidence of a consistent association between common genetic variation in AR and endometrial cancer risk...
Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphomaJoanne S Colt
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892 7240, USA
Blood 113:1899-905. 2009..This shows that the relation between organochlorine exposure and NHL risk may be modified by particular variants in immune genes and provides one of the first examples of a potential gene-environment interaction for NHL...
Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analysesMontserrat Garcia-Closas
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, 6120 Executive Boulevard, Room 7076, Rockville, MD 20952 7234, USA
Hum Genet 119:376-88. 2006..Evaluation of potential underlying gene-gene interactions or associations in population subgroups will require even larger sample sizes...
Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, ChinaGabriella Andreotti
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, DHHS, 6120 Executive Blvd, EPS 8011, MSC 7240, Bethesda, MD, 20892, USA
Eur J Epidemiol 24:763-74. 2009..These findings provide insight into the role of lipid metabolism genes, as well as the mechanisms by which these genes may be linked with disease...
Genome-wide and candidate gene association study of cigarette smoking behaviorsNeil Caporaso
Division of Cancer Epidemiology and Genetics, NCI, Bethesda, Maryland, United States of America
PLoS ONE 4:e4653. 2009..4x10(-5)), our analysis provides independent replication of the association between the chr15q25.1 region and smoking intensity and data for multiple other loci associated with smoking behavior that merit further follow-up...
Application of a novel score test for genetic association incorporating gene-gene interaction suggests functionality for prostate cancer susceptibility regionsJulia Ciampa
Epidemiology and Biostatistics Program, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD 20852, USA
Hum Hered 72:182-93. 2011..We use our method in applications designed to detect interactions that generate hypotheses about the functionality of prostate cancer (PRCA) susceptibility regions...
Analysis of SNPs and haplotypes in vitamin D pathway genes and renal cancer riskSara Karami
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health NIH, Department of Health and Human Services DHHS, Bethesda, Maryland, USA
PLoS ONE 4:e7013. 2009..This study comprehensively evaluated genetic variation across eight vitamin D pathway genes in relation to RCC risk. We found increased risk associated with VDR and RXRA. Replication studies are warranted to confirm these findings...
Childhood exposure to secondhand smoke and functional mannose binding lectin polymorphisms are associated with increased lung cancer riskSusan E Olivo-Marston
Cancer Prevention Fellowship Program, Office of Preventive Oncology, Division of Cancer Prevention, Laboratory of Human Carcinogenesis, CCR, NCI, NIH, Bethesda, MD 20892 4258, USA
Cancer Epidemiol Biomarkers Prev 18:3375-83. 2009....
Genetic polymorphisms in folate metabolism and the risk of stomach cancerFang Fang Zhang
Division of Cancer Epidemiology and Genetics, Advanced Technology Center, National Cancer Institute, Gaithersburg, Maryland, USA
Cancer Epidemiol Biomarkers Prev 16:115-21. 2007..Our study did not identify strong genetic determinants in the folate metabolism pathway for stomach cancer risk...
A single nucleotide polymorphism tags variation in the arylamine N-acetyltransferase 2 phenotype in populations of European backgroundMontserrat Garcia-Closas
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Bethesda, MD, USA
Pharmacogenet Genomics 21:231-6. 2011..Further studies are required to determine the functional implications of rs1495741 and the structure and evolution of the haplotype on which it resides...
NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analysesMontserrat Garcia-Closas
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Bethesda, MD 20852 7234, USA
Lancet 366:649-59. 2005..Associations between polymorphisms in other NAT and GST genes and bladder-cancer risk have been inconsistent...
GSTM1, GSTT1, and GSTP1 polymorphisms and risk of advanced colorectal adenomaLee E Moore
National Cancer Institute, 6120 Executive Boulevard, EPS 7034, Bethesda, MD 20892 7240, USA
Cancer Epidemiol Biomarkers Prev 14:1823-7. 2005..These findings only became apparent using a newly developed assay able to distinguish heterozygous from wild-type individuals. Our data provide evidence that phenotypic differences between these two groups exist...
Association of breast cancer outcome with status of p53 and MDM2 SNP309Brenda J Boersma
Laboratory of Human Carcinogenesis, National Cancer Institute, Bldg 37 Rm 3050B, Bethesda, MD 20892 4258, USA
J Natl Cancer Inst 98:911-9. 2006..We investigated whether genetic variants in MDM2 were associated with breast cancer incidence and survival and whether the variant status could interact with the tumor p53 status to modify breast cancer survival...
Polymorphisms in cytokine and cellular adhesion molecule genes and susceptibility to hematotoxicity among workers exposed to benzeneQing Lan
Division of Cancer Epidemiology, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, MD 20892 7240, USA
Cancer Res 65:9574-81. 2005..041) and increased (P = 0.076) CFU-GEMM progenitor cell colony formation in 29 benzene-exposed workers. This is the first report to provide evidence that SNPs in genes that regulate hematopoiesis influence benzene-induced hematotoxicity...
Genetic variation in cell cycle and apoptosis related genes and multiple myeloma riskH Dean Hosgood
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, United States
Leuk Res 33:1609-14. 2009..005). Haplotype analyses supported the SNP findings. These findings suggest that genetic variation in cell cycle and apoptosis genes may play a key role in multiple myeloma and warrant further investigation through replication studies...
Comprehensive analysis of 5-aminolevulinic acid dehydrogenase (ALAD) variants and renal cell carcinoma risk among individuals exposed to leadDana M Van Bemmel
Cancer Prevention Fellowship Program, Office of the Director, National Cancer Institute, Bethesda, Maryland, United States of America
PLoS ONE 6:e20432. 2011..Epidemiologic studies are reporting associations between lead exposure and human cancers. A polymorphism in the 5-aminolevulinic acid dehydratase (ALAD) gene affects lead toxicokinetics and may modify the adverse effects of lead...
Lung cancer survival and functional polymorphisms in MBL2, an innate-immunity geneSharon R Pine
Laboratory of Human Carcinogenesis, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 4258, USA
J Natl Cancer Inst 99:1401-9. 2007..e., LYB, LYC, HYD, and LXA) or higher (i.e., HYA and LYA) serum MBL concentrations. We investigated whether survival of patients with lung cancer was associated with these polymorphisms...
Arachidonate lipoxygenase (ALOX) and cyclooxygenase (COX) polymorphisms and colon cancer riskJulie E Goodman
Laboratory of Human Carcinogensis, Cancer Prevention Fellowship Program, Division of Cancer Prevention, National Cancer Institute, Bethesda, MD 20892, USA
Carcinogenesis 25:2467-72. 2004..We have shown for the first time that a haplotype containing ALOX5 G-1752A and G-1699A in a negative regulatory region of the promoter may influence colon cancer risk in Caucasians...
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)Gilles Thomas
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
Nat Genet 41:579-84. 2009..1 (rs999737; P = 1.74 x 10(-7)) localizes to RAD51L1, a gene in the homologous recombination DNA repair pathway. We also confirmed associations with loci on chromosomes 2q35, 5p12, 5q11.2, 8q24, 10q26 and 16q12.1...
A mitochondrial target sequence polymorphism in manganese superoxide dismutase predicts inferior survival in breast cancer patients treated with cyclophosphamideSharon A Glynn
Laboratory of Human Carcinogenesis, Center for Cancer Research, Office of Preventive Oncology, National Cancer Institute, NIH, Bethesda, Maryland 20892 4258, USA
Clin Cancer Res 15:4165-73. 2009..We hypothesized that this single-nucleotide polymorphism affects breast cancer survival of patients receiving chemotherapy...
Multiple loci identified in a genome-wide association study of prostate cancerGilles Thomas
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892, USA
Nat Genet 40:310-5. 2008..Our findings point to multiple loci with moderate effects associated with susceptibility to prostate cancer that, taken together, in the future may predict high risk in select individuals...
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemiaHiroki Yamaguchi
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892 1202, USA
N Engl J Med 352:1413-24. 2005..We investigated whether mutations in genes for other components of telomerase also occur in aplastic anemia...
Selected base excision repair gene polymorphisms and susceptibility to biliary tract cancer and biliary stones: a population-based case-control study in ChinaWen Yi Huang
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Carcinogenesis 29:100-5. 2008..This study suggests that genetic variants in XRCC1 and APEX1 may alter susceptibility to biliary tract cancer and stones. Further studies are required to confirm the reported associations...
Estimation of effect size distribution from genome-wide association studies and implications for future discoveriesJu Hyun Park
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services, Rockville, Maryland, USA
Nat Genet 42:570-5. 2010..However, for BPC cancers, which have modest familial aggregation, our analysis suggests that risk models based on common variants alone will have modest discriminatory power (63.5% area under curve), even with new discoveries...
Association between genetic variants in the 8q24 cancer risk regions and circulating levels of androgens and sex hormone-binding globulinLisa W Chu
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD, USA
Cancer Epidemiol Biomarkers Prev 19:1848-54. 2010..Genome-wide association studies have identified multiple independent regions on chromosome 8q24 that are associated with cancers of the prostate, breast, colon, and bladder...
Common variants in genes that mediate immunity and risk of multiple myelomaElizabeth E Brown
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD, USA
Int J Cancer 120:2715-22. 2007..Our findings provide preliminary evidence that common genetic variants in specific immune-mediated pathways could influence the risk of MM...
The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancerDenise L Stredrick
Laboratory of Population Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892 5060, USA
Hum Mutat 27:538-44. 2006..S49C, may be breast cancer susceptibility alleles. Because of their low frequency, even larger sample sizes are required to more firmly establish these associations...
Polymorphism of genes related to insulin sensitivity and the risk of biliary tract cancer and biliary stone: a population-based case-control study in Shanghai, ChinaShih Chen Chang
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, DHHS, Bethesda, MD 20892, USA
Carcinogenesis 29:944-8. 2008..Results from this population-based study suggest that certain genetic variants involved in the regulation of obesity-related insulin sensitivity may increase susceptibility to bile duct cancer and gallstones...
Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 associated with prostate cancer susceptibilityHong Lou
Laboratory of Experimental Immunology, Cancer and Inflammation Program, National Cancer Institute, Frederick, MD 21702, USA
Proc Natl Acad Sci U S A 106:7933-8. 2009..Further investigation is warranted to determine whether rs10993994 alone or in combination with additional variants contributes to prostate cancer susceptibility...
Cytokine gene polymorphisms as risk and severity factors for juvenile dermatomyositisGulnara Mamyrova
National Institute of Environmental Health Sciences, NIH, Bethesda, Maryland 20892 1301, USA
Arthritis Rheum 58:3941-50. 2008....
Population genetics and comparative genetics of CLDN1, a gene involved in hepatitis C virus entryVincent Bekker
Section on Genomic Variation, Pediatric Oncology Branch, Center for Cancer Research, NCI, NIH, Bethesda, MD, USA
Hum Hered 67:206-16. 2009..The pattern of linkage disequilibrium was determined for each group and there is substantial difference for common SNPS (>5%) between populations as well as genes, further supporting the absence of signatures of recent selection...
