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1.
Sante Publique ; 26(3): 307-16, 2014.
Artículo en Francés | MEDLINE | ID: mdl-25291878

RESUMEN

BACKGROUND: Available data in the field of oncology in France are scattered due to the large number of available indicators and their sources. In order to facilitate identification and analysis of these indicators, the French National Cancer Institute (INCa) has mapped the main indicators available in oncology. METHODS: Mapping was based on the needs of various categories of potential users. Standardized interviews were conducted face-to-face or by email among representatives to determine their needs and expectations. The underlying data sources were also identified: databases, national surveys, websites. A first selection of indicators was proposed in the report entitled "La situation du cancer en France en 2009" ("The state of cancer in France in 2009") and was expanded. Data collection concerning indicators was performed among INCa correspondents for each theme. RESULTS: Several themes were defined: epidemiology, prevention and risk factors, screening, medical demography, health care offer, living conditions, costs and expenses, research. Data were classified according to: geographical coverage, age, gender, type of cancer, occupational categories. This information was collected for each indicator selected and was made available via the cancer data website (http://lesdonnees.e-cancer.fr). CONCLUSIONS: The available oncology indicators are numerous and scattered. Mapping can be a useful tool to facilitate access to these indicators. It should be regularly updated to reflect the most recent data.


Asunto(s)
Neoplasias/epidemiología , Recolección de Datos , Francia/epidemiología , Humanos
2.
Hum Mutat ; 23(6): 621-8, 2004 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-15146467

RESUMEN

Recent technological advances, such as DNA chip devices that allow automated, high-throughput genotyping, promise to considerably improve the detection capability of single-nucleotide polymorphisms (SNPs) in clinically relevant genes. We used the NanoChip(R) Molecular Biology Workstation (Nanogen, www.nanogen.com) and recently introduced microelectronic array technology to develop a detection method for the more frequent mutations involved in familial Mediterranean fever (FMF), an autosomal recessive disease that affects several ethnic groups in the Mediterranean population, whose early diagnosis is crucial if severe complications are to be prevented. We adapted the previously described Nanogen procedures to FMF mutation analysis, introducing modifications that notably improve the technique. First, as the original procedure makes use of costly dye-tagged reporter sequences, we devised a universal reporter strategy, which was first evaluated and validated on the robust, previously established factor V Leiden and factor II (prothrombin) NanoChip diagnostic assays. FMF (MEFV), factor V (F5), and factor II (F2) genotypes identified using this improved system were totally concordant with results of other genotyping methods (denaturing gradient gel electrophoresis [DGGE], SSCP, and RFLP analysis). Second, we showed that the target sequences loaded on the NanoChip cartridges can be rehybridized several times in a highly reproducible manner, allowing sequential analysis of mutations. Thus, we devised a strategy that allows us to monitor the possible interference of additional mutations or SNPs at probe or stabilizer sequences. Finally, a comparative cost per sample analysis demonstrates that the accurate and reproducible FMF mutation detection assay we developed can be readily implemented in the clinical laboratory setting at reasonable expense.


Asunto(s)
Análisis Mutacional de ADN/métodos , Fiebre Mediterránea Familiar/genética , Análisis de Secuencia por Matrices de Oligonucleótidos/métodos , Secuencia de Bases , Costos y Análisis de Costo , ADN , Análisis Mutacional de ADN/economía , Cartilla de ADN , Factor V/genética , Genes Reporteros , Genotipo , Humanos , Datos de Secuencia Molecular , Mutación , Análisis de Secuencia por Matrices de Oligonucleótidos/economía , Protrombina/genética , Reproducibilidad de los Resultados
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