Authors
Felipe C. Geyer, Memorial Sloan Kettering Cancer Center; Instituto Israelita de Ensino e Pesquisa; Instituto Do Cancer Do Estado de São Paulo
Anqi Li, Memorial Sloan Kettering Cancer Center; Fudan University Shanghai Cancer Center
Anastasios D. Papanastasiou, Memorial Sloan Kettering Cancer Center; Patras General Hospital
Alison Smith, Memorial Sloan Kettering Cancer Center
Pier Selenica, Memorial Sloan Kettering Cancer Center
Kathleen A. Burke, Memorial Sloan Kettering Cancer Center
Marcia Edelweiss, Memorial Sloan Kettering Cancer Center
Huei-Chi Wen, Memorial Sloan Kettering Cancer Center
Salvatore Piscuoglio, Memorial Sloan Kettering Cancer Center; University Hospital Basel
Anne M. Schultheis, Memorial Sloan Kettering Cancer Center
Luciano G. Martelotto, Memorial Sloan Kettering Cancer Center
Fresia Pareja, Memorial Sloan Kettering Cancer Center
Rahul Kumar, Memorial Sloan Kettering Cancer Center
Alissa Brandes, Memorial Sloan Kettering Cancer Center
Dan Fan, Memorial Sloan Kettering Cancer Center; Central South University
Thais Basili, Memorial Sloan Kettering Cancer Center
Arnaud Da Cruz Paula, Memorial Sloan Kettering Cancer Center
John R. Lozada, Memorial Sloan Kettering Cancer Center
Pedro Blecua, Memorial Sloan Kettering Cancer Center
Simone Muenst, University Hospital Basel
Achim A. Jungbluth, Memorial Sloan Kettering Cancer Center
Maria P. Foschini, University of Bologna
Hannah Y. Wen, Memorial Sloan Kettering Cancer Center
Edi Brogi, Memorial Sloan Kettering Cancer Center
Juan P. Palazzo, Thomas Jefferson UniversityFollow
Brian P. Rubin, Cleveland Clinic
Charlotte K.Y. Ng, Memorial Sloan Kettering Cancer Center; University Hospital Basel; University of Basel
Larry Norton, Memorial Sloan Kettering Cancer Center
Zsuzsanna Varga, University Hospital Zurich
Ian O. Ellis, University of Nottingham
Emad A. Rakha, University of Nottingham
Sarat Chandarlapaty, Memorial Sloan Kettering Cancer Center
Britta Weigelt, Memorial Sloan Kettering Cancer Center
Jorge S. Reis-Filho, Memorial Sloan Kettering Cancer Center
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
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.