Towards Assessing The Likelihood of Mutations in BRCA1/2 Genes with Interval and Dempster-Shafer Theory Based Methods (Vortrag)

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Towards Assessing The Likelihood of Mutations in BRCA1/2 Genes with Interval and Dempster-Shafer Theory Based Methods (Vortrag)
Autor Ekaterina Auer, Wolfram Luther
Tagung/Veranstaltung Eingeladener Vortrag, online
Ort Institute for Risk and Uncertainty, University of Liverpool
am 22. Januar 2022
Review
Titel Proceedings
Autor Proceedings
Verlag
Erscheinungsjahr 2022

Germline mutations in BRCA1/2 genes are considered to lead to an increased risk of hereditary breast and ovarian cancer syndrome (HBOC). Modern genetic tests reliably identify BRCA1/2 mutations but are not necessarily helpful for everyone. Therefore, a preliminary step for arriving at specific suggestions concerning individual HBOC prevention and risk mitigation is the use of risk assessment tools that compute the likelihood of a mutation, for example, the Penn II risk model (https://pennmodel2.pmacs.upenn.edu/penn2/) and many others, including easy-to-use, questionnaire-type approaches. Because there are no true standards for data acquisition on the basis of which the mentioned tools decide about the mutation risk, the modeled mutation likelihoods might vary considerably so that decision uncertainty appears. The data might be incomplete wrt. patient’s origin, age, type of cancer, family history, etc. In this contribution, we take a first step towards data fusion/cleanup and propose two models to combine data on mutation probabilities for better correlation between personal and family cancer history or between different risk factors.

Video: https://www.youtube.com/watch?v=-2MhOei33ZQ