Publication Date:
2014-10-30
Description:
Nature Genetics 46, 1166 (2014). doi:10.1038/ng.3096 Authors: Ilan Weinreb, Salvatore Piscuoglio, Luciano G Martelotto, Daryl Waggott, Charlotte K Y Ng, Bayardo Perez-Ordonez, Nicholas J Harding, Javier Alfaro, Kenneth C Chu, Agnes Viale, Nicola Fusco, Arnaud da Cruz Paula, Caterina Marchio, Rita A Sakr, Raymond Lim, Lester D R Thompson, Simion I Chiosea, Raja R Seethala, Alena Skalova, Edward B Stelow, Isabel Fonseca, Adel Assaad, Christine How, Jianxin Wang, Richard de Borja, Michelle Chan-Seng-Yue, Christopher J Howlett, Anthony C Nichols, Y Hannah Wen, Nora Katabi, Nicholas Buchner, Laura Mullen, Thomas Kislinger, Bradly G Wouters, Fei-Fei Liu, Larry Norton, John D McPherson, Brian P Rubin, Blaise A Clarke, Britta Weigelt, Paul C Boutros & Jorge S Reis-Filho Polymorphous low-grade adenocarcinoma (PLGA) is the second most frequent type of malignant tumor of the minor salivary glands. We identified PRKD1 hotspot mutations encoding p.Glu710Asp in 72.9% of PLGAs but not in other salivary gland tumors. Functional studies demonstrated that this kinase-activating alteration likely constitutes a driver of PLGA.
Print ISSN:
1061-4036
Electronic ISSN:
1546-1718
Topics:
Biology
,
Medicine
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