Azzato, Elizabeth M, Morton, Lindsay M, Bergen, Andrew W, Wang, Sophia S, Chatterjee, Nilanjan, Kvale, Paul, ...
Abstract Background To investigate the contribution of the dopamine transporter to dopaminergic reward-related behaviors and anthropometry, we evaluated associations between polymorphisms at the...
ABO Blood Group and the Risk of Pancreatic Cancer (2009)
Wolpin, Brian M., Chan, Andrew T., Hartge, Patricia, Chanock, Stephen J., Kraft, Peter, Hunter, David J., ...
Background Other than several rare, highly penetrant familial syndromes, genetic risk factors for sporadic pancreatic cancer are largely unknown. ABO blood type is an inherited characteristic that in...
Chang, Man-huei, Lindegren, Mary Lou, Butler, Mary A., Chanock, Stephen J., Dowling, Nicole F., Gallagher, Margaret, ...
Population-based allele frequencies and genotype prevalence are important for measuring the contribution of genetic variation to human disease susceptibility, progression, and outcomes....
Khoury, Muin J., Bertram, Lars, Boffetta, Paolo, Butterworth, Adam S., Chanock, Stephen J., Dolan, Siobhan M., ...
Genome-wide association studies (GWAS) have led to a rapid increase in available data on common genetic variants and phenotypes and numerous discoveries of new loci associated with susceptibility to...
Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer (2009)
Freedman, Neal D., Ahn, Jiyoung, Hou, Lifang, Lissowska, Jolanta, Zatonski, Witold, Yeager, Meredith, ...
Androgens and estrogens may play a role in gastric cancer etiology. To investigate the association of gastric cancer with single-nucleotide polymorphisms (SNPs) in six genes (COMT, CYP1B1, CYP17A1,...
Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk (2009)
Ahn, Jiyoung, Albanes, Demetrius, Berndt, Sonja I., Peters, Ulrike, Chatterjee, Nilanjan, Freedman, Neal D., ...
We systematically investigated the association of 48 SNPS in four vitamin D metabolizing genes [CYP27A1, GC, CYP27B1 and CYP24A1] with serum 25-hydroxyvitamin D [25(OH)D] and 1,25-dihydroxyvitamin D...
Lynch, Shannon M., Vrieling, Alina, Lubin, Jay H., Kraft, Peter, Mendelsohn, Julie B., Hartge, Patricia, ...
Smoking is an established risk factor for pancreatic cancer; however, detailed examination of the association of smoking intensity, smoking duration, and cumulative smoking dose with pancreatic...
A pooled investigation of Toll-like receptor gene variants and risk of non-Hodgkin lymphoma (2009)
Purdue, Mark P., Lan, Qing, Wang, Sophia S., Kricker, Anne, Menashe, Idan, Zheng, Tong-Zhang, ...
Toll-like receptors (TLRs) may influence the development of non-Hodgkin lymphoma (NHL) given their important roles in recognizing microbial pathogens and stimulating multiple immune pathways. We...
Lee, Ji-Young, Park, Ae Kyung, Lee, Kyoung-Mu, Park, Sue K., Han, Sohee, Han, Wonshik, ...
Objectives: This study was conducted to investigate the role of common variation in innate immunity-related genes as susceptibility factors to breast cancer risk in Korean women. Methods: Total 1536...
Ahn, Jiyoung, Schumacher, Fredrick R., Berndt, Sonja I., Pfeiffer, Ruth, Albanes, Demetrius, Andriole, Gerald L., ...
Twin studies suggest a heritable component to circulating sex steroid hormones and sex hormone-binding globulin (SHBG). In the NCI-Breast and Prostate Cancer Cohort Consortium, 874 SNPs in 37...
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway (2009)
Hazra, Aditi, Kraft, Peter, Lazarus, Ross, Chen, Constance, Chanock, Stephen J., Jacques, Paul, ...
Low plasma B-vitamin levels and elevated homocysteine have been associated with cancer, cardiovascular disease and neurodegenerative disorders. Common variants in FUT2 on chromosome 19q13 were...
MBL2and Hepatitis C Virus Infection among Injection Drug Users (2008)
Brown, Elizabeth E, Zhang, Mingdong, Zarin-Pass, Rebecca, Bernig, Toralf, Tseng, Fan-Chen, Xiao, Nianqing, ...
Abstract Background Genetic variations in MBL2 that reduce circulating levels and alter functional properties of the mannose binding lectin (MBL) have been associated with many autoimmune and...
Common variants near MC4R are associated with fat mass, weight and risk of obesity (2008)
Loos, Ruth J.F., Lindgren, Cecilia M., Li, Shengxu, Wheeler, Eleanor, Zhao, Jing Hua, Prokopenko, Inga, ...
To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the...
Mechanic, Leah E, Luke, Brian T, Goodman, Julie E, Chanock, Stephen J, Harris, Curtis C
Abstract Background The risk of common diseases is likely determined by the complex interplay between environmental and genetic factors, including single nucleotide polymorphisms (SNPs). Traditional...
Danforth, Kim N., Hayes, Richard B., Rodriguez, Carmen, Yu, Kai, Sakoda, Lori C., Huang, Wen-Yi, ...
Chronic inflammation has been hypothesized to increase prostate cancer risk. Prostaglandin-endoperoxide synthase 2 (PTGS2) encodes the proinflammatory cyclooxygenase 2 enzyme believed to be the...
Pooled analysis of genetic variation at chromosome 8q24 and colorectal neoplasia risk (2008)
Berndt, Sonja I., Potter, John D., Hazra, Aditi, Yeager, Meredith, Thomas, Gilles, Makar, Karen W., ...
Several different genetic variants at chromosome 8q24 have been related to prostate, breast and colorectal cancer risk with evidence of region-specific risk differentials for various tumor types. We...
Chang, Shih-Chen, Rashid, Asif, Gao, Yu-Tang, Andreotti, Gabriella, Shen, Ming-Chang, Wang, Bin-Sheng, ...
Biliary tract cancer, encompassing tumors of the gallbladder, extrahepatic bile ducts and ampulla of Vater, is a rare but highly fatal malignancy. Obesity and gallstones, both related to insulin...
Huang, Wen-Yi, Gao, Yu-Tang, Rashid, Asif, Sakoda, Lori C., Deng, Jie, Shen, Ming-Chang, ...
Base excision repair (BER) corrects DNA damage caused by oxidative stress and chronic inflammation, putative risk factors for cancer. To understand the relationship between genetic variation in BER...
Hosgood, H.Dean, Menashe, Idan, Shen, Min, Yeager, Meredith, Yuenger, Jeff, Rajaraman, Preetha, ...
Common genetic variation may play an important role in altering lung cancer risk. We conducted a pathway-based candidate gene evaluation to identify genetic variations that may be associated with...
Berndt, Sonja I., Huang, Wen-Yi, Chatterjee, Nilanjan, Yeager, Meredith, Welch, Robert, Chanock, Stephen J., ...
Transforming growth factor beta 1 (TGFB1) is a multifunctional cytokine that has been implicated in the pathogenesis of colorectal neoplasia. To investigate the association between genetic variants...
Lung Cancer Survival and Functional Polymorphisms in MBL2, an Innate-Immunity Gene (2007)
Pine, Sharon R., Mechanic, Leah E., Ambs, Stefan, Bowman, Elise D., Chanock, Stephen J., Loffredo, Christopher, ...
Background The relationship among chronic inflammation, innate immunity, and cancer is well established. Mannose-binding lectin (MBL) is a key player in innate immunity. Five polymorphisms in the...
cissequence effects on gene expression (2007)
Bergen, Andrew W, Baccarelli, Andrea, McDaniel, Timothy K, Kuhn, Kenneth, Pfeiffer, Ruth, Kakol, Jerry, ...
Abstract Background Sequence and transcriptional variability within and between individuals are typically studied independently. The joint analysis of sequence and gene expression variation...
Genetic variation in TP53 and risk of breast cancer in a population-based case control study (2007)
Sprague, Brian L., Trentham-Dietz, Amy, Garcia-Closas, Montserrat, Newcomb, Polly A., Titus-Ernstoff, Linda, Hampton, John M., ...
Whereas germ line missense mutations in the tumor suppressor gene TP53 are associated with a marked predisposition to breast cancer, single-nucleotide polymorphisms (SNPs) may play a more modest role...
Replicating genotype-phenotype associations (2007)
Chanock, Stephen J., Manolio, Teri, Boehnke, Michael, Boerwinkle, Eric, Hunter, David J., Thomas, Gilles, ...
Peer Reviewed
Hunter, David J, Kraft, Peter, Jacobs, Kevin B, Cox, David G, Yeager, Meredith, Hankinson, Susan E, ...
We conducted a genome-wide association study (GWAS) of breast cancer by genotyping 528,173 SNPs in 1,145 postmenopausal women of European ancestry with invasive breast cancer and 1,142 controls. We...
Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. (2007)
Yeager, Meredith, Orr, Nick, Hayes, Richard B., Jacobs, Kevin B., Kraft, Peter, Wacholder, Sholom, ...
Recently, common variants on human chromosome 8q24 were found to be associated with prostate cancer risk. While conducting a genome-wide association study in the Cancer Genetic Markers of...
Garcia-Closas, Montserrat, Brinton, Louise A, Lissowska, Jolanta, Richesson, Douglas, Sherman, Mark E, Szeszenia-Dabrowska, Neonila, ...
Abstract Background The sex hormone-binding globulin ( SHBG ) is a carrier protein that modulates the bio-availability of serum sex steroid hormones, which may be involved in ovarian cancer. We...
Bernig, Toralf, Boersma, Brenda J., Howe, Tiffany M., Welch, Robert, Yadavalli, Sunita, Staats, Brian, ...
Common genetic variants in cancer-related genes contribute to breast cancer. The innate immune system plays a crucial role in the immune surveillance against malignancies, thus it is plausible that...
Montserrat García-Closas, Núria Malats, Francisco X. Real, Meredith Yeager, Robert Welch, Debra Silverman, ...
Common genetic variation could alter the risk for developing bladder cancer. We conducted a large-scale evaluation of single nucleotide polymorphisms (SNPs) in candidate genes for cancer to identify...
Chanock, Stephen J, Burdett, Laurie, Yeager, Meredith, Llaca, Victor, Langerød, Anita, Presswalla, Shafaq, ...
Abstract Introduction Genomic alterations have been observed in breast carcinomas that affect the capacity of cells to regulate proliferation, signaling, and metastasis. Re-sequence studies have...
Montserrat Garcia-Closas, Nuria Malats, Francisco X Real, Meredith Yeager, Robert Welch, Debra Silverman, ...
Common genetic variation can alter the risk for developing bladder cancer. We conducted a large-scale evaluation of single nucleotide polymorphisms (SNPs) in candidate genes for cancer to identify...
Chanock, Stephen J, Burdett, Laurie, Yeager, Meredith, Llaca, Victor, Langerød, Anita, Presswalla, Shafaq, ...
INTRODUCTION: Genomic alterations have been observed in breast carcinomas that affect the capacity of cells to regulate proliferation, signaling, and metastasis. Re-sequence studies have investigated...
Variation in DNA repair genes XRCC3, XRCC4, XRCC5 and susceptibility to myeloma (2007)
Hayden, Patrick J., Tewari, Prerna, Morris, Derek W., Staines, Anthony, Crowley, Dominique, Nieters, Alexandra, ...
Cytogenetic analysis in myeloma reveals marked chromosomal instability. Both widespread genomic alterations and evidence of aberrant class switch recombination, the physiological process that...
Foster, Charles B, Aswath, Kshama, Chanock, Stephen J, McKay, Heather F, Peters, Ulrike
Abstract Background There are at least 25 human selenoproteins, each characterized by the incorporation of selenium into the primary sequence as the amino acid selenocysteine. Since many...
Association of MTHFRgene polymorphisms with breast cancer survival (2006)
Martin, Damali N, Boersma, Brenda J, Howe, Tiffany M, Goodman, Julie E, Mechanic, Leah E, Chanock, Stephen J, ...
Abstract Background Two functional single nucleotide polymorphisms (SNPs) in the 5,10-methylenetetrahydrofolate reductase ( MTHFR ) gene, C677T and A1298C, lead to decreased enzyme activity and...
Association of Breast Cancer Outcome With Status of p53 and MDM2 SNP309 (2006)
Boersma, Brenda J., Howe, Tiffany M., Goodman, Julie E., Yfantis, Harry G., Lee, Dong H., Chanock, Stephen J., ...
Background: A common single-nucleotide polymorphism (SNP) in the promoter region of the MDM2 gene, known as T-309G and referred to as SNP309 for this study, leads to increased expression of Mdm2...
Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma (2006)
Wang, Sophia S., Davis, Scott, Cerhan, James R., Hartge, Patricia, Severson, Richard K., Cozen, Wendy, ...
Evidence supporting the contribution of oxidative stress to key pathways in cancer, such as inflammation and DNA damage, continues to mount. We investigated variations within genes mediating...
Bernig, Toralf, Boersma, Brenda J., Howe, Tiffany M., Welch, Robert, Yadavalli, Sunita, Staats, Brian, ...
Common genetic variants in cancer-related genes contribute to breast cancer. Since the innate immune system plays a crucial role in the immune surveillance against malignancies, it is plausible that...
Erichsen, Hans Christian, Engel, Stephanie A. Mulherin, Eck, Peter K., Welch, Robert, Yeager, Meredith, Levine, Mark, ...
Vitamin C has been the focus of epidemiologic investigation in preterm delivery (
Packer, Bernice R., Yeager, Meredith, Burdett, Laura, Welch, Robert, Beerman, Michael, Qi, Liqun, ...
The SNP500Cancer database provides sequence and genotype assay information for candidate SNPs useful in mapping complex diseases, such as cancer. The database is an integral component of the NCI...
Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma (2006)
Wang, Sophia S., Davis, Scott, Cerhan, James R., Hartge, Patricia, Severson, Richard K., Cozen, Wendy, ...
Evidence supporting the contribution of oxidative stress to key pathways in cancer, such as inflammation and DNA damage, continues to mount. We investigated variations within genes mediating...
Genetic Variation in the HSD17B1 Gene and Risk of Prostate Cancer (2005)
Peter Kraft, Paul Pharoah, Stephen J. Chanock, Demetrius Albanes, Laurence N. Kolonel, Richard B. Hayes, ...
Steroid hormones are believed to play an important role in prostate carcinogenesis, but epidemiological evidence linking prostate cancer and steroid hormone genes has been inconclusive, in part due...
Bergen, Andrew W, Qi, Ying, Haque, Kashif A, Welch, Robert A, Chanock, Stephen J
Abstract Background Whole genome amplification (WGA) promises to eliminate practical molecular genetic analysis limitations associated with genomic DNA (gDNA) quantity. We evaluated the performance...
Erichsen, Hans Christian, Engel, Stephanie A. Mulherin, Eck, Peter K., Welch, Robert, Yeager, Meredith, Levine, Mark, ...
Vitamin C has been the focus of epidemiologic investigation in preterm delivery (
CYP1A1 Val462 and NQO1 Ser187 polymorphisms, cigarette use, and risk for colorectal adenoma (2005)
Hou, Lifang, Chatterjee, Nilanjan, Huang, Wen-Yi, Baccarelli, Andrea, Yadavalli, Sunita, Yeager, Meredith, ...
Cigarette use is a risk factor for colorectal adenoma, a known precursor of colorectal cancer. Polymorphic variants in NQO1 and CYP1A1 influence the activation of carcinogenic substances in tobacco...
CYP1A1 Val462 and NQO1 Ser187 polymorphisms, cigarette use, and risk for colorectal adenoma (2005)
Hou, Lifang, Chatterjee, Nilanjan, Huang, Wen-Yi, Baccarelli, Andrea, Yadavalli, Sunita, Yeager, Meredith, ...
Cigarette use is a risk factor for colorectal adenoma, a known precursor of colorectal cancer. Polymorphic variants in NQO1 and CYP1A1 influence the activation of carcinogenic substances in tobacco...
Erichsen, Hans Christian, Engel, Stephanie A. Mulherin, Eck, Peter K., Welch, Robert, Yeager, Meredith, Levine, Mark, ...
Vitamin C has been the focus of epidemiologic investigation in preterm delivery (
Arachidonate lipoxygenase (ALOX) and cyclooxygenase (COX) polymorphisms and colon cancer risk (2004)
Goodman, Julie E., Bowman, Elise D., Chanock, Stephen J., Alberg, Anthony J., Harris, Curtis C.
In human colon, arachidonic acid is metabolized primarily by cyclooxygenase (COX) and arachidonate lipoxygenase (ALOX) to bioactive lipids, which are implicated in colon cancer risk. Several...
Packer, Bernice R., Yeager, Meredith, Staats, Brian, Welch, Robert, Crenshaw, Andrew, Kiley, Maureen, ...
The SNP500Cancer Database provides sequence and genotype assay information for candidate single nucleotide polymorphisms (SNPs) useful in mapping complex diseases, such as cancer. The database is an...
Arachidonate lipoxygenase (ALOX) and cyclooxygenase (COX) polymorphisms and colon cancer risk (2004)
Goodman, Julie E., Bowman, Elise D., Chanock, Stephen J., Alberg, Anthony J., Harris, Curtis C.
In the human colon, arachidonic acid is metabolized primarily by cyclooxygenase (COX) and arachidonate lipoxygenase (ALOX) to bioactive lipids, which are implicated in colon cancer risk. Several...
Performance of high-throughput DNA quantification methods (2003)
Haque, Kashif A, Pfeiffer, Ruth M, Beerman, Michael B, Struewing, Jeff P, Chanock, Stephen J, Bergen, Andrew W
Abstract Background The accuracy and precision of estimates of DNA concentration are critical factors for efficient use of DNA samples in high-throughput genotype and sequence analyses. We evaluated...
Müller, Frank-Michael C., Kasai, Miki, Francesconi, Andrea, Brillante, Beth, Roden, Maureen, Peter, Joanne, ...
We report transmission of an azole-resistant, isogenic strain of Candida albicans in a human immunodeficiency virus (HIV)-infected family of two children with symptomatic oropharyngeal candidiasis...
Letterio, John J., Lehrnbecher, Thomas, Pollack, Greg, Walsh, Thomas J., Chanock, Stephen J.
Candida albicans is an opportunistic fungal pathogen and a major cause of morbidity and mortality in patients with compromised immune function. The cytokine response to tissue invasion by C. albicans...
Müller, Frank-Michael C., Werner, Katherine E., Kasai, Miki, Francesconi, Andrea, Chanock, Stephen J., Walsh, Thomas J.
Current methods of DNA extraction from different fungal pathogens are often time-consuming and require the use of toxic chemicals. DNA isolation from some fungal organisms is difficult due to cell...
Vázquez, Nancy, Walsh, Thomas J., Friedman, Daphne, Chanock, Stephen J., Lyman, Caron A.
Interleukin-15 (IL-15) is a newly described cytokine that shares biological activities with IL-2. We report here results demonstrating the ability of IL-15 to enhance superoxide production and...
Performance of high-throughput DNA quantification methods
Haque, Kashif A, Pfeiffer, Ruth M, Beerman, Michael B, Struewing, Jeff P, Chanock, Stephen J, Bergen, Andrew W
Widespread purifying selection at polymorphic sites in human protein-coding loci
Hughes, Austin L., Packer, Bernice, Welch, Robert, Bergen, Andrew W., Chanock, Stephen J., Yeager, Meredith
Estimation of gene diversity (heterozygosity) at 1,442 single-nucleotide polymorphism (SNP) loci in an ethnically diverse sample of humans revealed consistently reduced gene diversities at SNP loci...
Packer, Bernice R., Yeager, Meredith, Staats, Brian, Welch, Robert, Crenshaw, Andrew, Kiley, Maureen, ...
The SNP500Cancer Database provides sequence and genotype assay information for candidate single nucleotide polymorphisms (SNPs) useful in mapping complex diseases, such as cancer. The database is an...
Hughes, Austin L., Packer, Bernice, Welch, Robert, Bergen, Andrew W., Chanock, Stephen J., Yeager, Meredith
In order to develop new strategies of searching for genetic associations with complex human diseases, we analyzed 2784 single nucleotide polymorphisms (SNPs) in 396 protein-coding genes involved in...
Effects of DNA mass on multiple displacement whole genome amplification and genotyping performance
Bergen, Andrew W, Qi, Ying, Haque, Kashif A, Welch, Robert A, Chanock, Stephen J
Forrest, Matthew S., Lan, Qing, Hubbard, Alan E., Zhang, Luoping, Vermeulen, Roel, Zhao, Xin, ...
Benzene is an industrial chemical and component of gasoline that is an established cause of leukemia. To better understand the risk benzene poses, we examined the effect of benzene exposure on...
Genetic Variation in the HSD17B1 Gene and Risk of Prostate Cancer
Kraft, Peter, Pharoah, Paul, Chanock, Stephen J, Albanes, Demetrius, Kolonel, Laurence N, Hayes, Richard B, ...
Steroid hormones are believed to play an important role in prostate carcinogenesis, but epidemiological evidence linking prostate cancer and steroid hormone genes has been inconclusive, in part due...
Packer, Bernice R., Yeager, Meredith, Burdett, Laura, Welch, Robert, Beerman, Michael, Qi, Liqun, ...
The SNP500Cancer database provides sequence and genotype assay information for candidate SNPs useful in mapping complex diseases, such as cancer. The database is an integral component of the NCI...
Association of MTHFR gene polymorphisms with breast cancer survival
Martin, Damali N, Boersma, Brenda J, Howe, Tiffany M, Goodman, Julie E, Mechanic, Leah E, Chanock, Stephen J, ...
Müller, Frank-Michael C., Kasai, Miki, Francesconi, Andrea, Brillante, Beth, Roden, Maureen, Peter, Joanne, ...
We report transmission of an azole-resistant, isogenic strain of Candida albicans in a human immunodeficiency virus (HIV)-infected family of two children with symptomatic oropharyngeal candidiasis...
Letterio, John J., Lehrnbecher, Thomas, Pollack, Greg, Walsh, Thomas J., Chanock, Stephen J.
Candida albicans is an opportunistic fungal pathogen and a major cause of morbidity and mortality in patients with compromised immune function. The cytokine response to tissue invasion by C. albicans...
Müller, Frank-Michael C., Werner, Katherine E., Kasai, Miki, Francesconi, Andrea, Chanock, Stephen J., Walsh, Thomas J.
Current methods of DNA extraction from different fungal pathogens are often time-consuming and require the use of toxic chemicals. DNA isolation from some fungal organisms is difficult due to cell...
Vázquez, Nancy, Walsh, Thomas J., Friedman, Daphne, Chanock, Stephen J., Lyman, Caron A.
Interleukin-15 (IL-15) is a newly described cytokine that shares biological activities with IL-2. We report here results demonstrating the ability of IL-15 to enhance superoxide production and...
Performance of high-throughput DNA quantification methods
Haque, Kashif A, Pfeiffer, Ruth M, Beerman, Michael B, Struewing, Jeff P, Chanock, Stephen J, Bergen, Andrew W
Widespread purifying selection at polymorphic sites in human protein-coding loci
Hughes, Austin L., Packer, Bernice, Welch, Robert, Bergen, Andrew W., Chanock, Stephen J., Yeager, Meredith
Estimation of gene diversity (heterozygosity) at 1,442 single-nucleotide polymorphism (SNP) loci in an ethnically diverse sample of humans revealed consistently reduced gene diversities at SNP loci...
Packer, Bernice R., Yeager, Meredith, Staats, Brian, Welch, Robert, Crenshaw, Andrew, Kiley, Maureen, ...
The SNP500Cancer Database provides sequence and genotype assay information for candidate single nucleotide polymorphisms (SNPs) useful in mapping complex diseases, such as cancer. The database is an...
Hughes, Austin L., Packer, Bernice, Welch, Robert, Bergen, Andrew W., Chanock, Stephen J., Yeager, Meredith
To develop new strategies for searching for genetic associations with complex human diseases, we analyzed 2784 single-nucleotide polymorphisms (SNPs) in 396 protein-coding genes involved in...
Effects of DNA mass on multiple displacement whole genome amplification and genotyping performance
Bergen, Andrew W, Qi, Ying, Haque, Kashif A, Welch, Robert A, Chanock, Stephen J
Forrest, Matthew S., Lan, Qing, Hubbard, Alan E., Zhang, Luoping, Vermeulen, Roel, Zhao, Xin, ...
Benzene is an industrial chemical and component of gasoline that is an established cause of leukemia. To better understand the risk benzene poses, we examined the effect of benzene exposure on...
Genetic Variation in the HSD17B1 Gene and Risk of Prostate Cancer
Kraft, Peter, Pharoah, Paul, Chanock, Stephen J, Albanes, Demetrius, Kolonel, Laurence N, Hayes, Richard B, ...
Steroid hormones are believed to play an important role in prostate carcinogenesis, but epidemiological evidence linking prostate cancer and steroid hormone genes has been inconclusive, in part due...
Packer, Bernice R., Yeager, Meredith, Burdett, Laura, Welch, Robert, Beerman, Michael, Qi, Liqun, ...
The SNP500Cancer database provides sequence and genotype assay information for candidate SNPs useful in mapping complex diseases, such as cancer. The database is an integral component of the NCI...
Association of MTHFR gene polymorphisms with breast cancer survival
Martin, Damali N, Boersma, Brenda J, Howe, Tiffany M, Goodman, Julie E, Mechanic, Leah E, Chanock, Stephen J, ...
García-Closas, Montserrat, Malats, Núria, Real, Francisco X, Yeager, Meredith, Welch, Robert, Silverman, Debra, ...
Common genetic variation could alter the risk for developing bladder cancer. We conducted a large-scale evaluation of single nucleotide polymorphisms (SNPs) in candidate genes for cancer to identify...
Chanock, Stephen J, Burdett, Laurie, Yeager, Meredith, Llaca, Victor, Langerød, Anita, Presswalla, Shafaq, ...
Garcia-Closas, Montserrat, Brinton, Louise A, Lissowska, Jolanta, Richesson, Douglas, Sherman, Mark E, Szeszenia-Dabrowska, Neonila, ...
Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes
Hill, Deirdre A., Wang, Sophia S., Cerhan, James R., Davis, Scott, Cozen, Wendy, Severson, Richard K., ...
Chromosomal translocations, insertions, and deletions are common early events in non-Hodgkin lymphoma (NHL) carcinogenesis, and implicated in their formation are endogenous processes involved in...
cis sequence effects on gene expression
Bergen, Andrew W, Baccarelli, Andrea, McDaniel, Timothy K, Kuhn, Kenneth, Pfeiffer, Ruth, Kakol, Jerry, ...
Garcia-Closas, Montserrat, Hall, Per, Nevanlinna, Heli, Pooley, Karen, Morrison, Jonathan, Richesson, Douglas A., ...
A three-stage genome-wide association study recently identified single nucleotide polymorphisms (SNPs) in five loci (fibroblast growth receptor 2 (FGFR2), trinucleotide repeat containing 9 (TNRC9),...
SNPs Meet CNVs in Genome-Wide Association Studies: HGV2007 Meeting Report
Estivill, Xavier, Cox, Nancy J., Chanock, Stephen J., Kwok, Pui-Yan, Scherer, Stephen W., Brookes, Anthony J.
Polymorphism Interaction Analysis (PIA): a method for investigating complex gene-gene interactions
Mechanic, Leah E, Luke, Brian T, Goodman, Julie E, Chanock, Stephen J, Harris, Curtis C
MBL2 and Hepatitis C Virus Infection among Injection Drug Users
Brown, Elizabeth E, Zhang, Mingdong, Zarin-Pass, Rebecca, Bernig, Toralf, Tseng, Fan-Chen, Xiao, Nianqing, ...
Perforin gene mutations in patients with acquired aplastic anemia
Solomou, Elena E., Gibellini, Federica, Stewart, Brian, Malide, Daniela, Berg, Maria, Visconte, Valeria, ...
Perforin is a cytolytic protein expressed mainly in activated cytotoxic lymphocytes and natural killer cells. Inherited perforin mutations account for 20% to 40% of familial hemophagocytic...
Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival
Cerhan, James R., Wang, Sophia, Maurer, Matthew J., Ansell, Stephen M., Geyer, Susan M., Cozen, Wendy, ...
Recent gene-expression data have suggested that host immune genetic signatures may predict outcomes in patients with follicular lymphoma. We evaluated the hypothesis that germ line common variation...
Genomic and functional analysis of the sodium-dependent vitamin C transporter SLC23A1–SVCT1
Eck, Peter, Erichsen, Hans Christian, Taylor, James G., Corpe, Christopher, Chanock, Stephen J., Levine, Mark
Transcriptional Networks Inferred from Molecular Signatures of Breast Cancer
Tongbai, Ron, Idelman, Gila, Nordgard, Silje H., Cui, Wenwu, Jacobs, Jonathan L., Haggerty, Cynthia M., ...
Global genomic approaches in cancer research have provided new and innovative strategies for the identification of signatures that differentiate various types of human cancers. Computational analysis...
Mutations in the SBDS gene in acquired aplastic anemia
Calado, Rodrigo T., Graf, Solomon A., Wilkerson, Keisha L., Kajigaya, Sachiko, Ancliff, Philip J., Dror, Yigal, ...
Shwachman-Diamond syndrome (SDS; OMIM 260400), an inherited bone marrow failure syndrome, is caused by mutations in both alleles of the SBDS gene, which encodes a protein of unknown function. Here we...
Alter, Blanche P., Baerlocher, Gabriela M., Savage, Sharon A., Chanock, Stephen J., Weksler, Babette B., Willner, Judith P., ...
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which the known susceptibility genes (DKC1, TERC, and TERT) belong to the telomere maintenance pathway; patients with DC...
Yeager, Meredith, Xiao, Nianqing, Hayes, Richard B., Bouffard, Pascal, Desany, Brian, Burdett, Laura, ...
Recently, genome-wide association studies have identified loci across a segment of chromosome 8q24 (128,100,000–128,700,000) associated with the risk of breast, colon and prostate cancers. At least...
SLC6A3 and body mass index in the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial
Azzato, Elizabeth M, Morton, Lindsay M, Bergen, Andrew W, Wang, Sophia S, Chatterjee, Nilanjan, Kvale, Paul, ...
Chang, Shih-Chen, Rashid, Asif, Gao, Yu-Tang, Andreotti, Gabriella, Shen, Ming-Chang, Wang, Bin-Sheng, ...
Biliary tract cancer, encompassing tumors of the gallbladder, extrahepatic bile ducts and ampulla of Vater, is a rare but highly fatal malignancy. Obesity and gallstones, both related to insulin...
Chang, Man-huei, Lindegren, Mary Lou, Butler, Mary A., Chanock, Stephen J., Dowling, Nicole F., Gallagher, Margaret, ...
Population-based allele frequencies and genotype prevalence are important for measuring the contribution of genetic variation to human disease susceptibility, progression, and outcomes....
Wang, Sophia S., Purdue, Mark P., Cerhan, James R., Zheng, Tongzhang, Menashe, Idan, Armstrong, Bruce K., ...
Phase I Metabolic Genes and Risk of Lung Cancer: Multiple Polymorphisms and mRNA Expression
Rotunno, Melissa, Yu, Kai, Lubin, Jay H., Consonni, Dario, Pesatori, Angela C., Goldstein, Alisa M., ...
Polymorphisms in genes coding for enzymes that activate tobacco lung carcinogens may generate inter-individual differences in lung cancer risk. Previous studies had limited sample sizes, poor...
Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia
Calado, Rodrigo T., Regal, Joshua A., Hills, Mark, Yewdell, William T., Dalmazzo, Leandro F., Zago, Marco A., ...
Loss-of-function mutations in telomerase complex genes can cause bone marrow failure, dyskeratosis congenita, and acquired aplastic anemia, both diseases that predispose to acute myeloid leukemia....
Lou, Hong, Yeager, Meredith, Li, Hongchuan, Bosquet, Jesus Gonzalez, Hayes, Richard B., Orr, Nick, ...
Two recent genome-wide association studies have independently identified a prostate cancer susceptibility locus on chromosome 10q11.2. The most significant single-nucleotide polymorphism (SNP) marker...
Lindgren, Cecilia M., Heid, Iris M., Randall, Joshua C., Lamina, Claudia, Steinthorsdottir, Valgerdur, Qi, Lu, ...
To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist...
Khoury, Muin J., Bertram, Lars, Boffetta, Paolo, Butterworth, Adam S., Chanock, Stephen J., Dolan, Siobhan M., ...
Genome-wide association studies (GWAS) have led to a rapid increase in available data on common genetic variants and phenotypes and numerous discoveries of new loci associated with susceptibility to...
Lindgren, Cecilia M., Heid, Iris M., Randall, Joshua C., Lamina, Claudia, Steinthorsdottir, Valgerdur, Qi, Lu, ...
Gathany, Allison H., Hartge, Patricia, Davis, Scott, Cerhan, James R., Severson, Richard K., Cozen, Wendy, ...
Habermann, Thomas M., Wang, Sophia S., Maurer, Matthew J., Morton, Lindsay M., Lynch, Charles F., Ansell, Stephen M., ...
To evaluate the hypothesis that host germ line variation in immune genes is associated with overall survival in diffuse large B-cell lymphoma (DLBCL), we genotyped 73 single nucleotide polymorphisms...
Hosgood, H.Dean, Menashe, Idan, Shen, Min, Yeager, Meredith, Yuenger, Jeff, Rajaraman, Preetha, ...
Common genetic variation may play an important role in altering lung cancer risk. We conducted a pathway-based candidate gene evaluation to identify genetic variations that may be associated with...
VI, James G. Taylor, Cheuk, Adam T., Tsang, Patricia S., Chung, Joon-Yong, Song, Young K., Desai, Krupa, ...
Rhabdomyosarcoma (RMS) is a childhood cancer originating from skeletal muscle, and patient survival is poor in the presence of metastatic disease. Few determinants that regulate metastasis...
A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations
Calado, Rodrigo T., Regal, Joshua A., Kleiner, David E., Schrump, David S., Peterson, Nathan R., Pons, Veronica, ...
Yeager, Meredith, Deng, Zuoming, Boland, Joseph, Matthews, Casey, Bacior, Jennifer, Lonsberry, Victor, ...
Genome-wide association studies of prostate cancer have identified single nucleotide polymorphism (SNP) markers in a region of chromosome 10q11.2, harboring the microseminoprotein-β (MSMB) gene....