Two risk prediction models identify patients at risk of NODAT

2012 ◽  
Vol 8 (4) ◽  
pp. 192-192
Breast Care ◽  
2015 ◽  
Vol 10 (1) ◽  
pp. 7-12 ◽  
Author(s):  
Christoph Engel ◽  
Christine Fischer

BRCA1/2 mutation carriers have a considerably increased risk to develop breast and ovarian cancer. The personalized clinical management of carriers and other at-risk individuals depends on precise knowledge of the cancer risks. In this report, we give an overview of the present literature on empirical cancer risks, and we describe risk prediction models that are currently used for individual risk assessment in clinical practice. Cancer risks show large variability between studies. Breast cancer risks are at 40-87% for BRCA1 mutation carriers and 18-88% for BRCA2 mutation carriers. For ovarian cancer, the risk estimates are in the range of 22-65% for BRCA1 and 10-35% for BRCA2. The contralateral breast cancer risk is high (10-year risk after first cancer 27% for BRCA1 and 19% for BRCA2). Risk prediction models have been proposed to provide more individualized risk prediction, using additional knowledge on family history, mode of inheritance of major genes, and other genetic and non-genetic risk factors. User-friendly software tools have been developed that serve as basis for decision-making in family counseling units. In conclusion, further assessment of cancer risks and model validation is needed, ideally based on prospective cohort studies. To obtain such data, clinical management of carriers and other at-risk individuals should always be accompanied by standardized scientific documentation.


Cancers ◽  
2021 ◽  
Vol 13 (7) ◽  
pp. 1495
Author(s):  
Tú Nguyen-Dumont ◽  
James G. Dowty ◽  
Robert J. MacInnis ◽  
Jason A. Steen ◽  
Moeen Riaz ◽  
...  

While gene panel sequencing is becoming widely used for cancer risk prediction, its clinical utility with respect to predicting aggressive prostate cancer (PrCa) is limited by our current understanding of the genetic risk factors associated with predisposition to this potentially lethal disease phenotype. This study included 837 men diagnosed with aggressive PrCa and 7261 controls (unaffected men and men who did not meet criteria for aggressive PrCa). Rare germline pathogenic variants (including likely pathogenic variants) were identified by targeted sequencing of 26 known or putative cancer predisposition genes. We found that 85 (10%) men with aggressive PrCa and 265 (4%) controls carried a pathogenic variant (p < 0.0001). Aggressive PrCa odds ratios (ORs) were estimated using unconditional logistic regression. Increased risk of aggressive PrCa (OR (95% confidence interval)) was identified for pathogenic variants in BRCA2 (5.8 (2.7–12.4)), BRCA1 (5.5 (1.8–16.6)), and ATM (3.8 (1.6–9.1)). Our study provides further evidence that rare germline pathogenic variants in these genes are associated with increased risk of this aggressive, clinically relevant subset of PrCa. These rare genetic variants could be incorporated into risk prediction models to improve their precision to identify men at highest risk of aggressive prostate cancer and be used to identify men with newly diagnosed prostate cancer who require urgent treatment.


Author(s):  
Po-Hsiang Lin ◽  
Jer-Guang Hsieh ◽  
Hsien-Chung Yu ◽  
Jyh-Horng Jeng ◽  
Chiao-Lin Hsu ◽  
...  

Determining the target population for the screening of Barrett’s esophagus (BE), a precancerous condition of esophageal adenocarcinoma, remains a challenge in Asia. The aim of our study was to develop risk prediction models for BE using logistic regression (LR) and artificial neural network (ANN) methods. Their predictive performances were compared. We retrospectively analyzed 9646 adults aged ≥20 years undergoing upper gastrointestinal endoscopy at a health examinations center in Taiwan. Evaluated by using 10-fold cross-validation, both models exhibited good discriminative power, with comparable area under curve (AUC) for the LR and ANN models (Both AUC were 0.702). Our risk prediction models for BE were developed from individuals with or without clinical indications of upper gastrointestinal endoscopy. The models have the potential to serve as a practical tool for identifying high-risk individuals of BE among the general population for endoscopic screening.


PLoS ONE ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. e0224135 ◽  
Author(s):  
Gian Luca Di Tanna ◽  
Heidi Wirtz ◽  
Karen L. Burrows ◽  
Gary Globe

2020 ◽  
Vol 4 ◽  
pp. 239784732097863
Author(s):  
Stanley E Lazic ◽  
Dominic P Williams

Predicting the safety of a drug from preclinical data is a major challenge in drug discovery, and progressing an unsafe compound into the clinic puts patients at risk and wastes resources. In drug safety pharmacology and related fields, methods and analytical decisions known to provide poor predictions are common and include creating arbitrary thresholds, binning continuous values, giving all assays equal weight, and multiple reuse of information. In addition, the metrics used to evaluate models often omit important criteria and models’ performance on new data are often not assessed rigorously. Prediction models with these problems are unlikely to perform well, and published models suffer from many of these issues. We describe these problems in detail, demonstrate their negative consequences, and propose simple solutions that are standard in other disciplines where predictive modelling is used.


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