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Can I read A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants on EtoBox?
A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants by Chao, Jesse T.; Hollman, Rocio; Meyers, Warren M.; Meili, Fabian; Matreyek, Kenneth A.; Dean, Pamela; Fowler, Douglas M.; Haas, Kurt; Roskelley, Calvin D.; Loewen, Christopher J.R. is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants about?
## Abstract ## As sequencing becomes more economical, we are identifying sequence variations in the population faster than ever. For disease-associated genes, it is imperative that we differentiate a sequence variant as either benign or pathogenic, such that the appropriate therapeutic interventions or surveillance can be implemented. PTEN is a frequently mutated tumor suppressor that has been linked to the PTEN hamartoma tumor syndrome. Although the domain structure of PTEN and the functional impact of a number of its most common tumor-linked mutations have been characterized, there is a lack of information about many recently identified clinical variants. To address this challenge, we developed a cell-based assay that utilizes a premalignant phenotype of normal mammary epithelial cells lacking PTEN. We measured the ability of PTEN variants to rescue the spheroid formation phenotype of PTEN−/− MCF10A cells maintained in suspension. As proof of concept, we functionalized 47 missense variants using this assay, only 19 of which have clear classifications in ClinVar. We utilized a machine learning model trained with annotated genotypic data to classify variants as benign or pathogenic
Who reads A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Chao, Jesse T.; Hollman, Rocio; Meyers, Warren M.; Meili, Fabian; Matreyek, Kenneth A.; Dean, Pamela; Fowler, Douglas M.; Haas, Kurt; Roskelley, Calvin D.; Loewen, Christopher J.R.
- Publisher
- American Association for Cancer Research; American Association for Cancer Research Inc.; American Association for Cancer Research (AACR) (ISSN 0008-5472)
- Published
- 2020
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)