[HTML][HTML] Finding all BRCA pathogenic mutation carriers: best practice models
N Hoogerbrugge, MCJ Jongmans - European Journal of Human …, 2016 - nature.com
… that BRCA pathogenic mutation status can … best practices for genetic counselling and
BRCA testing; it examines the challenges facing current practice and looks at adapted models …
BRCA testing; it examines the challenges facing current practice and looks at adapted models …
Optimal Selection of Individuals for BRCA Mutation Testing: A Comparison of Available Methods
PA James, R Doherty, M Harris, BN Mukesh… - Journal of Clinical …, 2006 - ascopubs.org
… BRCA2 mutation carriers were missed by all of the models … To evaluate the overall performance
of each model, receiver … for selecting BRCA1/2 mutation carriers at a range of threshold …
of each model, receiver … for selecting BRCA1/2 mutation carriers at a range of threshold …
Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of LAMBDA, BRCAPRO, Myriad II, and modified Couch models
… In practice, predictions across different models are usually compared when … these models.
In this study, we compared the performance characteristics of four mutation prediction models …
In this study, we compared the performance characteristics of four mutation prediction models …
A Pragmatic Testing-Eligibility Framework for Population Mutation Screening: The Example of BRCA1/2
AF Best, MA Tucker, MN Frone, MH Greene… - … Biomarkers & Prevention, 2019 - AACR
… of mutation carriers identified versus population members tested. We assess the fractions of
mutation carriers … may circumvent the need to calculate model-based carrier probabilities. …
mutation carriers … may circumvent the need to calculate model-based carrier probabilities. …
Validity of Models for Predicting BRCA1 and BRCA2 Mutations
G Parmigiani, S Chen, ES Iversen Jr… - Annals of internal …, 2007 - acpjournals.org
… We assessed the validity of commonly used models for estimating mutation … models. Our
main goal was to measure how well these models discriminated between mutation carriers …
main goal was to measure how well these models discriminated between mutation carriers …
Mutation prediction models in Lynch syndrome: evaluation in a clinical genetic setting
D Ramsoekh, ME van Leerdam, A Wagner… - Journal of medical …, 2009 - jmg.bmj.com
… Identification of mutation carriers can be based on a combination of clinical diagnostic …
detection of mutation carriers and therefore it is suboptimal for identification of mutation carriers. …
detection of mutation carriers and therefore it is suboptimal for identification of mutation carriers. …
[HTML][HTML] BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients …
J Norum, EM Grindedal, C Heramb, I Karsrud… - ESMO open, 2018 - Elsevier
… Identification of BRCA mutation carriers among patients with breast cancer (BC) involves
costs and gains. Testing has been performed according to international guidelines, focusing on …
costs and gains. Testing has been performed according to international guidelines, focusing on …
BRCA1 and BRCA2: the genetic testing and the current management options for mutation carriers
M Palma, E Ristori, E Ricevuto, G Giannini… - Critical Reviews in …, 2006 - Elsevier
… This model would explain the sharp reduction of breast cancer incidence at menopause in
BRCA1 mutation carrier women, which does not occur in BRCA2 mutation carriers. In a study …
BRCA1 mutation carrier women, which does not occur in BRCA2 mutation carriers. In a study …
[HTML][HTML] Evaluation of models to predict BRCA germline mutations
HH Kang, R Williams, J Leary, C Ringland, J Kirk… - British journal of …, 2006 - nature.com
… Application of these models, therefore, did not rule in BRCA mutation carrier status.
Similar trends were observed for separate BRCA1/2 performance measures except BRCA2 …
Similar trends were observed for separate BRCA1/2 performance measures except BRCA2 …
The contribution of breast cancer pathology to statistical models to predict mutation risk in BRCA carriers
AC Vargas, LD Silva, SR Lakhani - Familial cancer, 2010 - Springer
… However, all models were able to discriminate well between BRCA1/2 mutation carriers
and non mutation carriers. The areas under the Receiver Operating characteristic curves (ROC) …
and non mutation carriers. The areas under the Receiver Operating characteristic curves (ROC) …
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