Knowledge Synthesis of Genes and Cancer

What is Knowledge Synthesis?

An evidence-based synthesis that takes into account the amount of evidence, the extent of replication and protection from bias from meta-analyses and systematic reviews in any given subject.

A group met in Venice, Italy, on November 9-10, 2006 and developed the Venice CriteriaExternal Web Site Policy as guidelines on how to assess cumulative epidemiologic evidence in genetic associations.

CancerGEM KB

CancerGEM KB is an online resource for researchers, public health professionals, policy makers, and health care providers interested in the use of genomic information in cancer care and prevention. CancerGEM KB provides objective synthesis and timely dissemination of information on cancer human genome epidemiology (genetic associations, gene-environment interactions and gene prevalence information) and aggregated evidence on cancer genomic tests in transition to clinical and public health practice. CancerGEM KB also offers summary information on Genomic Tests through PLoS Currents Evidence on Genomic Tests, an open-access online publication featuring short summaries of evidence for the validity and utility of genetic tests.


Cancer GAMAdb

In the field of cancer, genetic association studies are among the most active and well-funded research areas and have produced hundreds of genetic associations, especially in the GWAS era. Knowledge synthesis of these discoveries is the first critical step in translating the rapidly emerging data from cancer genetic association research into potential applications for clinical practice. To facilitate the effort of translational research on cancer genetics, we have developed a continually updated database named Cancer Genome-wide Association and Meta Analyses database (Cancer GAMAdb) that contains key descriptive characteristics of each genetic association extracted from published GWAS and meta-analyses relevant to cancer risk. This valuable tool can be found at http://www.hugenavigator.net/CancerGEMKB/caIntegratorStartPage.doExternal Web Site Policy


GAPP Knowledge Base (GAPP KB)

The CDC Office of Public Health Genomics recently launched the GAPP KBExternal Web Site Policy to provide access to information on application of genomic research for use in public health and health care. GAPP KB features the following tools:

GAPPFinderExternal Web Site Policy. A continuously updated, searchable database of genetic tests in transition from research to clinical and public health practice. Curators have updated the database weekly since October 2009, using the results of customized, systematic Internet searches.

Evidence AggregatorExternal Web Site Policy. A tool for searching evidence reports, systematic reviews, recommendations, and guidelines on genetic tests and other applications of genomic technologies. This information is collected from various sources of summaries, reviews, and recommendations, such as the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) project, the Evidence for Genomic Applications journal, the Agency for Healthcare Research and Quality, and others.

Evidence for Genomic ApplicationsExternal Web Site Policy. An online, open access journal that will publish summary articles on the validity and utility of genetic tests and other applications of genomic technologies. The content of this journal is moderated by a group of experts in genetics and knowledge synthesis.


Genetic Associations in Cancer- building a Knowledge Synthesis

A Field Synopsis on Low-Penetrance Variants in DNA Repair Genes and Cancer SusceptibilityExternal Web Site Policy
Vineis et al. 2008

Editorial: Building a Knowledge Base on Genetic Variation and Cancer Risk through Field SynopsesExternal Web Site Policy

Cancer Genetics Meta-Analyses and HuGE ReviewsExternal Web Site Policy
This link takes you to all Meta-Analyses and HuGE Reviews of genetic associations in Human Cancer Epidemiology.

Cancer Related Genome Wide Association StudiesExternal Web Site Policy
This link takes you to all publications of Genome Wide Associations in Cancer.


Genomic Applications in Cancer Care and Prevention

The January 2009 issue of Genetics in Medicine's issue is dedicated to evidence based reviews and recommendations related to the use of genomic applications in practice from the EGAPP working group. The issue includes commentary, methods of the working group and three cancer-related topics reviews and recommendations.

Challenges and opportunities for evidence-based genetics practiceExternal Web Site Policy. A commentary by Reed V. Tuckston MD, FACP

The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working GroupExternal Web Site Policy. An article from the EGAPP Working Group


Evidence Reviews

Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? An evidence-based reviewExternal Web Site Policy.

EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndromeExternal Web Site Policy.


EGAPP Recommendation Statements

Recommendations from the EGAPP Working Group: can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan?External Web Site Policy

Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relativesExternal Web Site Policy.

Recommendations from the EGAPP Working Group: can tumor gene expression profiling improve outcomes in patients with breast cancer?External Web Site Policy


STrengthening the REporting of Genetic Association Studies (STREGA)

The Human Genome Epidemiology Network (HuGENet) has recently released recommendations for STrengthening the REporting of Genetic Association Studies (STREGA)External Web Site Policy. This initiative builds on the STrengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement and provides additions that are important to consider in genetic association studies to 12 of the 22 items on the STROBE checklist.

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