Curating the Way to Better Determinants of Genetic Risk
Cet article passe en revue les données sur les performances des tests qui, à partir du séquençage d'un panel de gènes, visent à prédire un risque de cancer du sein
A diagnosis of unilateral ductal carcinoma in situ and a family history of breast cancer motivated me to request genetic testing. I was primarily interested in my BRCA1 and BRCA2 sequences because certain variants in these genes confer a high risk of breast cancer. BRCA variants of unknown significance and pathogenic BRCA variants were not detected. A variant of unknown significance in a gene called MRE11A was determined to be present, but there is limited evidence that variants in MRE11A influence susceptibility to breast cancer, which raises the question of why MRE11A was included in the analysis...
New England Journal of Medicine , éditorial en libre accès, 2014