Article
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.
Acta neuropathologica - 1 Jun 2016
Rivera Barbara, Gayden Tenzin, Carrot-Zhang Jian, Nadaf Javad, Boshari Talia, Faury Damien, Zeinieh Michele, Blanc Romeo, Burk David L, Fahiminiya Somayyeh, Bareke Eric, Schüller Ulrich, Monoranu Camelia M, Sträter Ronald, Kerl Kornelius, Niederstadt Thomas, Kurlemann Gerhard, Ellezam Benjamin, Michalak Zuzanna, Thom Maria, Lockhart Paul J, Leventer Richard J, Ohm Milou, MacGregor Duncan, Jones David, Karamchandani Jason, Greenwood Celia M T, Berghuis Albert M, Bens Susanne, Siebert Reiner, Zakrzewska Magdalena, Liberski Pawel P, Zakrzewski Krzysztof, Sisodiya Sanjay M, Paulus Werner, Albrecht Steffen, Hasselblatt Martin, Jabado Nada, Foulkes William D, Majewski Jacek
Abstract excerpt
Dysembryoplastic neuroepithelial tumor (DNET) is a benign brain tumor associated with intractable drug-resistant epilepsy. In order to identify underlying genetic alterations and molecular mechanisms, we examined three family members affected by multinodular DNETs as well as 100 sporadic tumors from 96 patients, which had been referred to us as DNETs. We performed whole-exome sequencing on 46 tumors and targeted...
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