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Identification of a new prostate cancer susceptibility locus on chromosome 8q24
Nature Genetics
Advance Online Publication
September 20, 2009
CGEMS researchers announce discovery of new area on chromosome 8 that is associated with risk for prostate cancer. This publication describes a specific variant at 8q24 that is associated with prostate cancer. This study, along with additional papers published in parallel, all found this region to be associated with prostate cancer risk.
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Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer
Nature Genetics
Advance Online Publication
August 2, 2009
In the advance online publication released August 2, 2009, in Nature Genetics, researchers report the identification of new genetic variants in the gene responsible for ABO blood type that are associated with risk for pancreatic cancer. The study concluded that individuals with the variants that codes for blood types "A", "B" or "AB," were at an increased risk of pancreatic cancer, compared to those with the variant type "O." This evidence is consistent with previous findings indicating an increased risk of gastric and pancreatic cancer among individuals with blood types A, B, and AB. These latest results provide a genetic basis for those earlier observations. (subscription required)
NCI Press Release
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Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 associated with prostate cancer susceptibility
Proceedings of the National Academy of Sciences
May 12, 2009
Genome-wide association studies of prostate cancer have identified single nucleotide polymorphism (SNP) markers in a region of chromosome 10 that harbors the microseminoprotein-beta (MSMB) gene. MSMB has been previously investigated as related to prostate cancer progression. This study used next-generation sequencing technology to confirm the relationship of those SNPs to prostate cancer risk and disease progression. They also closely examined the area surrounding MSMB and identified 241 novel polymorphisms within this region, including 142 in the block of linkage disequilibrium that includes MSMB. The variants associated with prostate cancer risk also appear to be associated with decreased expression of MSMB.
NCI Press Release
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Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
Nature Genetics
Advance Online Publication
March 29, 2009
Breast cancer genome-wide association study identifies seven genetic variants associated with susceptibility to risk of disease. These variants explain only a small fraction of the familial risk of breast cancer. Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q. (subscription required)
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A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)
Nature Genetics
Advance Online Publication
March 29, 2009
In the advance online publication released March 29, 2009, in Nature Genetics, the Cancer Genetic Markers of Susceptibility (CGEMS) team reported the identification of new genetic variations in two regions of DNA — located on chromosomes 1 and 14 — that may be associated with the risk of sporadic breast cancer. This study also confirms some of the previously identified associations between specific regions in the genome and breast cancer risk. (subscription required)
NCI Press Release
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Genome-Wide and Candidate Gene Association Study of Cigarette Smoking Behaviors
PLoS ONE
Advance Online Publication
February 27, 2009
Researchers investigated the contribution of common genetic variants to seven established measures of smoking behavior. Although none of the variants achieved genome-wide significance, researchers observed between two and seven SNPs that approached significance for each of the seven measures. After adjusting for multiple tests conducted within each gene, they identified between two and five genes associated with each measure of smoking behavior.
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Variation in KLK genes, prostate-specific antigen and risk of prostate cancer
Nature Genetics
September 2008
Researchers sought to characterize the independent contribution of specific single nucleotide polymorphisms (SNPs) in the gene KLK3 to risk of prostate cancer. Despite the challenge of KLK3’s role in determining serum PSA concentrations, the researchers did not find an association with any of the SNPs in the KLK3 region in the five case-control studies that were part of this analysis.
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Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers
Human Genetics
Advance Online Publication
August 14, 2008
This study generated a detailed map of genetic variation across the region of 8q24, which should be useful for planning an approach for fine mapping of association signals in this region and investigations of the functional consequences of select common variants.
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Access to Genetic Variants Speeds Disease Research
caBIG™ Links Newsletter
Issue XI
May 2008
Researchers are now conducting genome-wide association studies (GWAS) to scan the genomes of thousands of individuals, looking for single nucleotide polymorphisms (SNPs), common genetic variations that may be associated with specific diseases. With the first public release of a whole genome association study of cancer completed in 2006 by the Cancer Genetic Markers of Susceptibility (CGEMS) project, thus far the project has analyzed more than 500,000 SNPs. Following initial association analyses such as those being conducted by CGEMS, the next step for investigators is to conduct molecular-functional studies to find out how associated genes contribute to the underlying biology of a given disease.
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More Genetic Clues for Prostate Cancer Found
NCI Cancer Bulletin
Volume 5 / Number 4
February 19, 2008
A new wave of genome scans for prostate cancer ties additional chromosome regions to the disease while also confirming previously reported associations on chromosomes 8 and 17. The results, from three genome-wide association studies published online this month in Nature Genetics, underscore the complexity of prostate cancer genetics. The first study, from NCI's Cancer Genetic Markers of Susceptibility (CGEMS) initiative, identifies regions of chromosomes 7, 10, and 11 that are associated with moderate increases in the risk of prostate cancer.
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Multiple loci identified in a genome-wide association study of prostate cancer
Nature Genetics
Vol 40, Issue 3
February 10, 2008
The prostate cancer study looks at the association between multiple loci and the susceptibility to prostate cancer, which could be used as an indicator for high risk individuals.
NCI Press Release
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Genome Scans for Cancer: What's Next?
NCI Cancer Bulletin
Volume 5 / Number 1
January 8, 2008
Scanning the human genome for genetic variants involved in common cancers began to pay dividends in 2007, and the trend is likely to continue as more large studies involving new types of cancer report their results in the coming year. For the first time, researchers have been discovering and validating genetic variants associated with common cancers such as breast, colon, and prostate.
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Genetic Breast Cancer Risk Factor Discovered
NCI Cancer Bulletin
Volume 4 / Number 18
May 29, 2007
Researchers have identified common genetic variations associated with breast cancer in several populations of women. The variants occur in a tumor suppressor gene called FGFR2 (Fibroblast Growth Factor Receptor 2), which was previously reported to be amplified or overexpressed in some breast cancers. Additional variants are likely to be found as the researchers analyze the genome data generated as part of the study, conducted under NCI's Cancer Genetic Markers of Susceptibility (CGEMS) program.
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A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer
Nature Genetics
Advance Online Publication
May 27, 2007
Researcher 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. They identified four SNPs in the gene FGFR2 that were highly associated with breast cancer and confirmed this association in 1,776 affected individuals and 2,072 controls from three additional studies.
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Genome-wide association study of prostate cancer identifies a second risk locus at 8q24
Nature Genetics
Vol 39, Issue 5
May 1, 2007
Researchers report a variation in a portion of DNA strongly predicts prostate cancer risk and that this common variation may be responsible for up to 20 percent of prostate cancer cases in white men in the United States. The region of interest is located on chromosome 8 in a segment of DNA that has few known or predicted genes for prostate cancer.
NCI Press Release
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New NCI Initiative to Identify Genetic Risks for Breast and Prostate Cancer
NCI Cancer Bulletin
Volume 3 / Number 7
February 14, 2006
NCI has launched an initiative to identify genetic alterations that make people susceptible to prostate and breast cancer, two of the most commonly diagnosed cancers in the United States. The Cancer Genetic Markers of Susceptibility (CGEMS) program is a 3-year initiative, funded for $14 million, that will conduct scans of the entire human genome (genotyping) to identify common, inherited gene mutations that increase the risks for breast and prostate cancer.
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NCI's Intramural Program: A Cornerstone for Success
NCI Cancer Bulletin
Volume 3 / Number 5
January 31, 2006
The important work of the intramural program continues. For example, the Division of Cancer Epidemiology and Genetics (DCEG) have joined forces with extramural investigators in the formation of cohort, case-control, and family-based consortia in a cost-efficient and coordinated effort to accelerate progress in the discovery of cancer susceptibility genes and their interaction with environmental factors.
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NCI Launches CGEMS Project
NCI Cancer Bulletin
Volume 2 / Number 16
April 19, 2005
NCI is launching a strategic initiative that will use the cutting-edge technology of whole genome single nucleotide polymorphism scans to help identify inherited susceptibility genes for breast and prostate cancer. The Cancer Genetic Markers of Susceptibility (C-GEMS) project is an enterprise activity in NCI's DCEG and the NCI Core Genotyping Facility, with collaboration from the Cancer Genome Anatomy Project.
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DCEG Leads NCI Enterprise Initiative in Genomics
DCEG Linkage Newsletter
November 2005
Capitalizing on the extraordinary momentum generated by advances in human genetic research, DCEG is forging ahead with one of the first major whole genome scanning projects in cancer. The Cancer Genetic Markers of Susceptibility (CGEMS) study will use the latest genetic technologies to perform dense whole genome scans to identify and validate susceptibility genes for breast and prostate cancers and to clarify gene-gene and gene-environment interactions.
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