Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: A retrospective study in a sample of Italian cancer genetics clinics
Varesco L.,Unit of Hereditary Cancer |
Viassolo V.,Unit of Hereditary Cancer |
Viel A.,Cancer Regional Center |
Gismondi V.,Unit of Hereditary Cancer |
And 18 more authors.
Breast | Year: 2013
Purpose: To evaluate in current practice the performance of BOADICEA and BRCAPRO risk models and empirical criteria based on cancer family history for the selection of individuals for BRCA genetic testing. Patients and methods: The probability of BRCA mutation according to the three tools was retrospectively estimated in 918 index cases consecutively undergone BRCA testing at 15 Italian cancer genetics clinics between 2006 and 2008. Results: 179 of 918 cases (19.5%) carried BRCA mutations. With the strict use of the criteria based on cancer family history 173 BRCA (21.9%) mutations would have been detected in 789 individuals. At the commonly used 10% threshold of BRCA mutation carrier probability, the genetic models showed a similar performance [PPV (38% and 37%), sensitivity (76% and 77%) and specificity (70% and 69%)]. Their strict use would have avoided around 60% of the tests but would have missed approximately 1 every 4 carriers. Conclusion: Our data highlight the complexity of BRCA testing referral in routine practice and question the strict use of genetic models for BRCA risk assessment. © 2013 Elsevier Ltd.
Strocchi S.,Varese Hospital |
Ghielmi M.,University of Insubria |
Basilico F.,University of Insubria |
Macchi A.,University of Insubria |
And 3 more authors.
Progress in Biomedical Optics and Imaging - Proceedings of SPIE | Year: 2016
This work quantitatively evaluates the effects induced by susceptibility characteristics of materials commonly used in dental practice on the quality of head MR images in a clinical 1.5T device. The proposed evaluation procedure measures the image artifacts induced by susceptibility in MR images by providing an index consistent with the global degradation as perceived by the experts. Susceptibility artifacts were evaluated in a near-clinical setup, using a phantom with susceptibility and geometric characteristics similar to that of a human head. We tested different dentist materials, called PAL Keramit, Ti6Al4V-ELI, Keramit NP, ILOR F, Zirconia and used different clinical MR acquisition sequences, such as "classical" SE and fast, gradient, and diffusion sequences. The evaluation is designed as a matching process between reference and artifacts affected images recording the same scene. The extent of the degradation induced by susceptibility is then measured in terms of similarity with the corresponding reference image. The matching process involves a multimodal registration task and the use an adequate similarity index psychophysically validated, based on correlation coefficient. The proposed analyses are integrated within a computer-supported procedure that interactively guides the users in the different phases of the evaluation method. 2-Dimensional and 3-dimensional indexes are used for each material and each acquisition sequence. From these, we drew a ranking of the materials, averaging the results obtained. Zirconia and ILOR F appear to be the best choice from the susceptibility artefacts point of view, followed, in order, by PAL Keramit, Ti6Al4V-ELI and Keramit NP. © 2016 SPIE.