Article
Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas.
Nature communications - 8 May 2018
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, Rubin Brian P, Ng Charlotte K Y, Norton Larry, Varga Zsuzsanna, Ellis Ian O, Rakha Emad A, Chandarlapaty Sarat, Weigelt Britta, Reis-Filho Jorge S
Abstract excerpt
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...
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