Nature Communications (May 2018)
Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas
- Felipe C. Geyer,
- Anqi Li,
- Anastasios D. Papanastasiou,
- Alison Smith,
- Pier Selenica,
- Kathleen A. Burke,
- Marcia Edelweiss,
- Huei-Chi Wen,
- Salvatore Piscuoglio,
- Anne M. Schultheis,
- Luciano G. Martelotto,
- Fresia Pareja,
- Rahul Kumar,
- Alissa Brandes,
- Dan Fan,
- Thais Basili,
- Arnaud Da Cruz Paula,
- John R. Lozada,
- Pedro Blecua,
- Simone Muenst,
- Achim A. Jungbluth,
- Maria P. Foschini,
- Hannah Y. Wen,
- Edi Brogi,
- Juan Palazzo,
- Brian P. Rubin,
- Charlotte K. Y. Ng,
- Larry Norton,
- Zsuzsanna Varga,
- Ian O. Ellis,
- Emad A. Rakha,
- Sarat Chandarlapaty,
- Britta Weigelt,
- Jorge S. Reis-Filho
Affiliations
- Felipe C. Geyer
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Anqi Li
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Anastasios D. Papanastasiou
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Alison Smith
- Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center
- Pier Selenica
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Kathleen A. Burke
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Marcia Edelweiss
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Huei-Chi Wen
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Salvatore Piscuoglio
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Anne M. Schultheis
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Luciano G. Martelotto
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Fresia Pareja
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Rahul Kumar
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Alissa Brandes
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Dan Fan
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Thais Basili
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Arnaud Da Cruz Paula
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- John R. Lozada
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Pedro Blecua
- Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center
- Simone Muenst
- Institute of Pathology and Medical Genetics, University Hospital Basel
- Achim A. Jungbluth
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Maria P. Foschini
- Department of Biomedical and Neuromotor Sciences, University of Bologna, Section of Bellaria Hospital
- Hannah Y. Wen
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Edi Brogi
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Juan Palazzo
- Department of Pathology, Thomas Jefferson University Hospital
- Brian P. Rubin
- Department of Pathology, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic
- Charlotte K. Y. Ng
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Larry Norton
- Department of Medicine, Memorial Sloan Kettering Cancer Center
- Zsuzsanna Varga
- Institute of Surgical Pathology, University Hospital Zurich
- Ian O. Ellis
- Department of Pathology, University of Nottingham
- Emad A. Rakha
- Department of Pathology, University of Nottingham
- Sarat Chandarlapaty
- Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center
- Britta Weigelt
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Jorge S. Reis-Filho
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- DOI
- https://doi.org/10.1038/s41467-018-04128-5
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 16
Abstract
Adenomyoepithelioma is a rare tumor of the breast with an unknown genetic basis. Here the authors perform a genomic analysis of adenomyoepitheliomas revealing that their repertoire of somatic mutations vary according to the estrogen receptor (ER) status, and that ER-negative tumors harbor recurrent mutations in HRAS and PI3K pathway genes.
