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- Mehine, M, et al.
(author)
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Chromothripsis in uterine leiomyomas
- 2013
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In: The New England journal of medicine. - 1533-4406. ; 369:22, s. 2160-2161
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Journal article (other academic/artistic)
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- Mehine, M, et al.
(author)
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Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers
- 2016
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In: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 1091-6490. ; 113:5, s. 1315-1320
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Journal article (peer-reviewed)abstract
- The clinical and scientific community widely regards uterine leiomyomas as a single entity, although evidence of genetic heterogeneity exists. The aim of this study was to explore transcriptional differences between leiomyomas harboring different genetic alterations, including high mobility group AT-hook 2 rearrangements, mediator complex subunit 12 mutations, biallelic inactivation of fumarate hydratase, and collagen, type IV, alpha 5-collagen, type IV, alpha 6 deletions. The evidence presented herein strongly suggests that specific driver mutations are the major determinants of expression changes in leiomyomas. Here we highlight subtype-specific expression differences in key driver pathways and emphasize the utility of stratification in leiomyoma research. Finally, we offer a set of candidate biomarkers that will facilitate the molecular classification of leiomyomas.
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