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
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.
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