Document Type
Article
Publication Date
5-8-2018
Abstract
Adenomyoepithelioma of the breast is a rare tumor characterized by epithelial-myoepithelial differentiation, whose genetic underpinning is largely unknown. Here we show through whole-exome and targeted massively parallel sequencing analysis that whilst estrogen receptor (ER)-positive adenomyoepitheliomas display PIK3CA or AKT1 activating mutations, ER-negative adenomyoepitheliomas harbor highly recurrent codon Q61 HRAS hotspot mutations, which co-occur with PIK3CA or PIK3R1 mutations. In two- and three-dimensional cell culture models, forced expression of HRAS
Recommended Citation
Geyer, Felipe C.; Li, Anqi; Papanastasiou, Anastasios D.; Smith, Alison; Selenica, Pier; Burke, Kathleen A.; Edelweiss, Marcia; Wen, Huei-Chi; Piscuoglio, Salvatore; Schultheis, Anne M.; Martelotto, Luciano G.; Pareja, Fresia; Kumar, Rahul; Brandes, Alissa; Fan, Dan; Basili, Thais; Da Cruz Paula, Arnaud; Lozada, John R.; Blecua, Pedro; Muenst, Simone; Jungbluth, Achim A.; Foschini, Maria P.; Wen, Hannah Y.; Brogi, Edi; Palazzo, Juan P.; Rubin, Brian P.; Ng, Charlotte K.Y.; Norton, Larry; Varga, Zsuzsanna; Ellis, Ian O.; Rakha, Emad A.; Chandarlapaty, Sarat; Weigelt, Britta; and Reis-Filho, Jorge S., "Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas." (2018). Department of Pathology, Anatomy, and Cell Biology Faculty Papers. Paper 234.
https://jdc.jefferson.edu/pacbfp/234
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
PubMed ID
29739933
Language
English
Comments
This article has been peer reviewed. It is the author’s final published version in Nature Communications, Volume 9, Issue 1, May 2018, Article number 1816.
The published version is available at https://doi.org/10.1038/s41467-018-04128-5. Copyright © Geyer et al.