Article
The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation.
PLoS genetics - 1 Jul 2014
Brohl Andrew S, Solomon David A, Chang Wendy, Wang Jianjun, Song Young, Sindiri Sivasish, Patidar Rajesh, Hurd Laura, Chen Li, Shern Jack F, Liao Hongling, Wen Xinyu, Gerard Julia, Kim Jung-Sik, Lopez Guerrero Jose Antonio, Machado Isidro, Wai Daniel H, Picci Piero, Triche Timothy, Horvai Andrew E, Miettinen Markku, Wei Jun S, Catchpool Daniel, Llombart-Bosch Antonio, Waldman Todd, Khan Javed
Abstract excerpt
The Ewing sarcoma family of tumors (EFT) is a group of highly malignant small round blue cell tumors occurring in children and young adults. We report here the largest genomic survey to date of 101 EFT (65 tumors and 36 cell lines). Using a combination of whole genome sequencing and targeted sequencing approaches, we discover that EFT has a very low mutational burden (0.15 mutations/Mb) but frequent deleterious...
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