Article
Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma.
Cancer research - 15 May 2014
Seki Masafumi, Yoshida Kenichi, Shiraishi Yuichi, Shimamura Teppei, Sato Yusuke, Nishimura Riki, Okuno Yusuke, Chiba Kenichi, Tanaka Hiroko, Kato Keisuke, Kato Motohiro, Hanada Ryoji, Nomura Yuko, Park Myoung-Ja, Ishida Toshiaki, Oka Akira, Igarashi Takashi, Miyano Satoru, Hayashi Yasuhide, Ogawa Seishi, Takita Junko
Abstract excerpt
Pleuropulmonary blastoma (PPB) is a rare pediatric malignancy whose pathogens are poorly understood. Recent reports suggest that germline mutations in the microRNA-processing enzyme DICER1 may contribute to PPB development. To investigate the genetic basis of this cancer, we performed whole-exome sequencing or targeted deep sequencing of multiple cases of PPB. We found biallelic DICER1 mutations to be very...
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