Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1166-1169 |
| Number of pages | 4 |
| Journal | Nature Genetics |
| Volume | 46 |
| Issue number | 11 |
| DOIs | |
| State | Published - Nov 5 2014 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics
Cite this
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. / Weinreb, Ilan; Piscuoglio, Salvatore; Martelotto, Luciano G.; Waggott, Daryl; Ng, Charlotte K Y; Perez-Ordonez, Bayardo; Harding, Nicholas J.; Alfaro, Javier; Chu, Kenneth C.; Viale, Agnes; Fusco, Nicola; Da Cruz Paula, Arnaud; Marchio, Caterina; Sakr, Rita A.; Lim, Raymond; Thompson, Lester D R; Chiosea, Simion I.; Seethala, Raja R.; Skalova, Alena; Stelow, Edward B.; Fonseca, Isabel; Assaad, Adel; How, Christine; Wang, Jianxin; De Borja, Richard; Chan-Seng-Yue, Michelle; Howlett, Christopher J.; Nichols, Anthony C.; Wen, Y. Hannah; Katabi, Nora; Buchner, Nicholas; Mullen, Laura; Kislinger, Thomas; Wouters, Bradly G.; Liu, Fei Fei; Norton, Larry; Mcpherson, John Douglas; Rubin, Brian P.; Clarke, Blaise A.; Weigelt, Britta; Boutros, Paul C.; Reis-Filho, Jorge S.
In: Nature Genetics, Vol. 46, No. 11, 05.11.2014, p. 1166-1169.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands
AU - Weinreb, Ilan
AU - Piscuoglio, Salvatore
AU - Martelotto, Luciano G.
AU - Waggott, Daryl
AU - Ng, Charlotte K Y
AU - Perez-Ordonez, Bayardo
AU - Harding, Nicholas J.
AU - Alfaro, Javier
AU - Chu, Kenneth C.
AU - Viale, Agnes
AU - Fusco, Nicola
AU - Da Cruz Paula, Arnaud
AU - Marchio, Caterina
AU - Sakr, Rita A.
AU - Lim, Raymond
AU - Thompson, Lester D R
AU - Chiosea, Simion I.
AU - Seethala, Raja R.
AU - Skalova, Alena
AU - Stelow, Edward B.
AU - Fonseca, Isabel
AU - Assaad, Adel
AU - How, Christine
AU - Wang, Jianxin
AU - De Borja, Richard
AU - Chan-Seng-Yue, Michelle
AU - Howlett, Christopher J.
AU - Nichols, Anthony C.
AU - Wen, Y. Hannah
AU - Katabi, Nora
AU - Buchner, Nicholas
AU - Mullen, Laura
AU - Kislinger, Thomas
AU - Wouters, Bradly G.
AU - Liu, Fei Fei
AU - Norton, Larry
AU - Mcpherson, John Douglas
AU - Rubin, Brian P.
AU - Clarke, Blaise A.
AU - Weigelt, Britta
AU - Boutros, Paul C.
AU - Reis-Filho, Jorge S.
PY - 2014/11/5
Y1 - 2014/11/5
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84908867220&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84908867220&partnerID=8YFLogxK
U2 - 10.1038/ng.3096
DO - 10.1038/ng.3096
M3 - Article
C2 - 25240283
AN - SCOPUS:84908867220
VL - 46
SP - 1166
EP - 1169
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 11
ER -