Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: Proposed guidelines for improving data collection, distribution, and integration
✍ Scribed by M. Olivier; A. Petitjean; J. Teague; S. Forbes; J.K. Dunnick; J.T. den Dunnen; A. Langerød; J.M. Wilkinson; M. Vihinen; R.G.H. Cotton; P. Hainaut
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 197 KB
- Volume
- 30
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Study design (consecutive series, case-control, prospective, clinical trial, etc.); * Nature and number of tumor samples analyzed; * Geographic location or name of hospital(s) where samples have been obtained; * Mutation detection method; * Gene portion that has been screened for mutations; * Quality control procedure (mutation must be confirmed by repeating sequencing on a new PCR product); * Assessment of somatic origin (mutation searched or not in blood or normal tissue); * Mutation description: DNA or RNA position and nucleotide change (nomenclature should be compliant to HGVS standards, see Table 2); * Sample: topography, morphology, nature, and source; * Provide a detailed description of mutations using HGVS nomenclature standards. * Provide related annotations on tumor sample and patient, using annotations and nomenclatures recommended in this work (Table 2). * Provide unique identifiers for tumor samples. * Clearly identify mutations that have been previously published to avoid redundancies in databases; * Provide detailed list of mutations with related annotations on tumors and patients as supplementary material.