{"title":"Genetic testing for familial cancer. The French National Report (year 2003).","authors":"François Eisinger","doi":"10.1159/000111640","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Since 2002, hereditary cancer gene testing has been funded at the national level in France. Here we report on the impact of this funding on the number of tests carried out and specify the genes/syndromes on which these tests focus.</p><p><strong>Methods: </strong>All French laboratory facilities funded had to submit a report on their activities to the French Health Ministry in March 2004.</p><p><strong>Results: </strong>Funding has led to an increase of >344% in the number of tests carried out between the years 2000 and 2003. For every 100,000 inhabitants, 16.02 cases with a familial cancer syndrome (index cases subjected to 'diagnostic genetic testing') and 4.44 relatives of an index case with a proven mutation were tested. The overall mutation detection rate was 15.2% in the case of breast cancer genes and 17.2% in that of mismatch repair genes.</p><p><strong>Conclusion: </strong>In France, the current mutation detection rate is high in comparison with the 10% benchmark level. A further increase can be expected to occur in the number of tests carried out in the future.</p>","PeriodicalId":80975,"journal":{"name":"Community genetics","volume":"11 1","pages":"63-7"},"PeriodicalIF":0.0000,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000111640","citationCount":"13","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Community genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000111640","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2008/1/15 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 13
Abstract
Background: Since 2002, hereditary cancer gene testing has been funded at the national level in France. Here we report on the impact of this funding on the number of tests carried out and specify the genes/syndromes on which these tests focus.
Methods: All French laboratory facilities funded had to submit a report on their activities to the French Health Ministry in March 2004.
Results: Funding has led to an increase of >344% in the number of tests carried out between the years 2000 and 2003. For every 100,000 inhabitants, 16.02 cases with a familial cancer syndrome (index cases subjected to 'diagnostic genetic testing') and 4.44 relatives of an index case with a proven mutation were tested. The overall mutation detection rate was 15.2% in the case of breast cancer genes and 17.2% in that of mismatch repair genes.
Conclusion: In France, the current mutation detection rate is high in comparison with the 10% benchmark level. A further increase can be expected to occur in the number of tests carried out in the future.
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