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Numerous models have been developed to quantify the combined effect of various risk factors to predict either risk of developing breast cancer, risk of carrying a high-risk germline genetic mutation, specifically in the BRCA1 and BRCA2 genes, or the risk of both. These breast cancer risk models can be separated into those that utilize mainly hormonal and environmental factors and those that focus more on hereditary risk. Given the wide range of models from which to choose, understanding what each model predicts, the populations for which each is best suited to provide risk estimations, the current validation and comparative studies that have been performed for each model, and how to apply them practically is important for clinicians and researchers seeking to utilize risk models in their practice. This review provides a comprehensive guide for those seeking to understand and apply breast cancer risk models by summarizing the majority of existing breast cancer risk prediction models including the risk factors they incorporate, the basic methodology in their development, the information each provides, their strengths and limitations, relevant validation studies, and how to access each for clinical or investigative purposes.

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Our learning curve analysis shows that the model can achieve reasonable results even when trained on a few annotations. We developed a user-friendly interface to the database that allows physicians to easily identify patients with target characteristics and export the matching cohort. This model has the potential to reduce the effort required for analyzing large amounts of data from medical records, and to minimize the cost and time required to glean scientific insight from these data.

Background Several breast cancer risk-assessment models exist. Few studies have evaluated predictive accuracy of multiple models in large screening populations. Methods We evaluated the performance of the BRCAPRO, Gail, Claus, Breast Cancer Surveillance Consortium (BCSC), and Tyrer-Cuzick models in predicting risk of breast cancer over 6 years among 35 921 women aged 40–84 years who underwent mammography screening at Newton-Wellesley Hospital from 2007 to 2009. We assessed model discrimination using the area under the receiver operating characteristic curve (AUC) and assessed calibration by comparing the ratio of observed-to-expected (O/E) cases. We calculated the square root of the Brier score and positive and negative predictive values of each model. Results Our results confirmed the good calibration and comparable moderate discrimination of the BRCAPRO, Gail, Tyrer-Cuzick, and BCSC models. The Gail model had slightly better O/E ratio and AUC (O/E = 0.98, 95% confidence interval [CI] = 0.91 to 1.06, AUC = 0.64, 95% CI = 0.61 to 0.65) compared with BRCAPRO (O/E = 0.94, 95% CI = 0.88 to 1.02, AUC = 0.61, 95% CI = 0.59 to 0.63) and Tyrer-Cuzick (version 8, O/E = 0.84, 95% CI = 0.79 to 0.91, AUC = 0.62, 95% 0.60 to 0.64) in the full study population, and the BCSC model had the highest AUC among women with available breast density information (O/E = 0.97, 95% CI = 0.89 to 1.05, AUC = 0.64, 95% CI = 0.62 to 0.66). All models had poorer predictive accuracy for human epidermal growth factor receptor 2 positive and triple-negative breast cancers than hormone receptor positive human epidermal growth factor receptor 2 negative breast cancers. Conclusions In a large cohort of patients undergoing mammography screening, existing risk prediction models had similar, moderate predictive accuracy and good calibration overall. Models that incorporate additional genetic and nongenetic risk factors and estimate risk of tumor subtypes may further improve breast cancer risk prediction.

The rapid drop in the cost of DNA sequencing led to the availability of multi-gene panels, which test 25 or more cancer susceptibility genes for a low cost. Clinicians and genetic counselors need a tool to interpret results, understand risk of various cancers, and advise on a management strategy. This is challenging as there are multiple studies regarding each gene, and it is not possible for clinicians and genetic counselors to be aware of all publications, nor to appreciate the relative accuracy and importance of each. Through an extensive literature review, we have identified reliable studies and derived estimates of absolute risk. We have also developed a systematic mechanism and informatics tools for (1) data curation, (2) the evaluation of quality of studies, and (3) the statistical analysis necessary to obtain risk. We produced the risk prediction clinical decision support tool ASK2ME (All Syndromes Known to Man Evaluator). It provides absolute cancer risk predictions for various hereditary cancer susceptibility genes. These predictions are specific to patients' gene carrier status, age, and history of relevant prophylactic surgery. By allowing clinicians to enter patient information and receive patient-specific cancer risks, this tool aims to have a significant impact on the quality of precision cancer prevention and disease management activities relying on panel testing. It is important to note that this tool is dynamic and constantly being updated, and currently, some of its limitations include (1) for many gene-cancer associations risk estimates are based on one study rather than meta-analysis, (2) strong assumptions on prior cancers, (3) lack of uncertainty measures, and (4) risk estimates for a growing set of gene-cancer associations which are not always variant specific. All of these concerns are being addressed on an ongoing basis, aiming to make the tool even more accurate.

Three-dimensional (3D) printing technologies are increasingly used to convert medical imaging studies into tangible (physical) models of individual patient anatomy, allowing physicians, scientists, and patients an unprecedented level of interaction with medical data. To date, virtually all 3D-printable medical data sets are created using traditional image thresholding, subsequent isosurface extraction, and the generation of .stl surface mesh file formats. These existing methods, however, are highly prone to segmentation artifacts that either overor underexaggerate the features of interest, thus resulting in anatomically inaccurate 3D prints. In addition, they often omit finer detailed structures and require time-and labor-intensive processes to visually verify their accuracy. To circumvent these problems, we present a bitmap-based multimaterial 3D printing workflow for the rapid and highly accurate generation of physical models directly from volumetric data stacks. This workflow employs a thresholding-free approach that bypasses both isosurface creation and traditional mesh slicing algorithms, hence significantly improving speed and accuracy of model creation. In addition, using preprocessed binary bitmap slices as input to multimaterial 3D printers allows for the physical rendering of functional gradients native to volumetric data sets, such as stiffness and opacity, opening the door for the production of biomechanically accurate models.

Purpose Extracting information from Electronic Medical Record is a time-consuming and expensive process when done manually. Rule-based and machine learning techniques are two approaches to solving this problem. In this study, we trained a machine learning model on pathology reports to extract pertinent tumor characteristics, which enabled us to create a large database of attribute searchable pathology reports. This database can be used to identify cohorts of patients with characteristics of interest. MethodsWe collected a total of 91,505 breast pathology reports from three Partners hospitals: Massachusetts General Hospital (MGH), Brigham and Womens Hospital (BWH), and Newton-Wellesley Hospital (NWH), covering the period from 1978 to 2016. We trained our system with annotations from two datasets, consisting of 6,295 and 10,841 manually annotated reports. The system extracts 20 separate categories of information, including atypia types and various tumor characteristics such as receptors. We also report a learning curve analysis to show how much annotation our model needs to perform reasonably.Results The model accuracy was tested on 500 reports that did not overlap with the training set. The model achieved accuracy of 90% for correctly parsing all carcinoma and atypia categories for a given patient. The average accuracy for individual categories was 97%. Using this classifier, we created a database of 91,505 parsed pathology reports.Conclusions Our learning curve analysis shows that the model can achieve reasonable results even when trained on a few annotations. We developed a user-friendly interface to the database that allows physicians to easily identify patients with target characteristics and export the matching cohort. This model has the potential to reduce the effort required for analyzing large amounts of data from medical records, and to minimize the cost and time required to glean scientific insight from this data.