The genomic landscape and evolution of endometrial carcinoma progression and abdominopelvic metastasis

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The genomic landscape and evolution of endometrial carcinoma progression and abdominopelvic metastasis

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Title: The genomic landscape and evolution of endometrial carcinoma progression and abdominopelvic metastasis
Author: Gibson, William J.; Hoivik, Erling A.; Halle, Mari K.; Taylor-Weiner, Amaro; Cherniack, Andrew D.; Berg, Anna; Holst, Frederik; Zack, Travis I.; Werner, Henrica M. J.; Staby, Kjersti M.; Rosenberg, Mara; Stefansson, Ingunn M.; Kusonmano, Kanthida; Chevalier, Aaron; Mauland, Karen K.; Trovik, Jone; Krakstad, Camilla; Giannakis, Marios; Hodis, Eran; Woie, Kathrine; Bjorge, Line; Vintermyr, Olav K.; Wala, Jeremiah A.; Lawrence, Michael S.; Getz, Gad; Carter, Scott L.; Beroukhim, Rameen; Salvesen, Helga B.

Note: Order does not necessarily reflect citation order of authors.

Citation: Gibson, W. J., E. A. Hoivik, M. K. Halle, A. Taylor-Weiner, A. D. Cherniack, A. Berg, F. Holst, et al. 2016. “The genomic landscape and evolution of endometrial carcinoma progression and abdominopelvic metastasis.” Nature genetics 48 (8): 848-855. doi:10.1038/ng.3602. http://dx.doi.org/10.1038/ng.3602.
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Abstract: Recent studies have detailed the genomic landscape of primary endometrial cancers, but their evolution into metastases has not been characterized. We performed whole-exome sequencing of 98 tumor biopsies including complex atypical hyperplasias, primary tumors, and paired abdominopelvic metastases to survey the evolutionary landscape of endometrial cancer. We expanded and reanalyzed TCGA-data, identifying novel recurrent alterations in primary tumors, including mutations in the estrogen receptor cofactor NRIP1 in 12% of patients. We found that likely driver events tended to be shared by primary and metastatic tissue-samples, with notable exceptions such as ARID1A mutations. Phylogenetic analyses indicated that the sampled metastases typically arose from a common ancestral subclone that was not detected in the primary tumor biopsy. These data demonstrate extensive genetic heterogeneity within endometrial cancers and relative homogeneity across metastatic sites.
Published Version: doi:10.1038/ng.3602
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963271/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:29739151
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