Somatic SETBP1 mutations in myeloid malignancies.

doi:10.1038/ng.2696

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Article

Somatic SETBP1 mutations in myeloid malignancies.

Nature genetics - 1 Aug 2013

Makishima Hideki, Yoshida Kenichi, Nguyen Nhu, Przychodzen Bartlomiej, Sanada Masashi, Okuno Yusuke, Ng Kwok Peng, Gudmundsson Kristbjorn O, Vishwakarma Bandana A, Jerez Andres, Gomez-Segui Ines, Takahashi Mariko, Shiraishi Yuichi, Nagata Yasunobu, Guinta Kathryn, Mori Hiraku, Sekeres Mikkael A, Chiba Kenichi, Tanaka Hiroko, Muramatsu Hideki, Sakaguchi Hirotoshi, Paquette Ronald L, McDevitt Michael A, Kojima Seiji, Saunthararajah Yogen, Miyano Satoru, Shih Lee-Yung, Du Yang, Ogawa Seishi, Maciejewski Jaroslaw P

Abstract excerpt

Here we report whole-exome sequencing of individuals with various myeloid malignancies and identify recurrent somatic mutations in SETBP1, consistent with a recent report on atypical chronic myeloid leukemia (aCML). Closely positioned somatic SETBP1 mutations encoding changes in Asp868, Ser869, Gly870, Ile871 and Asp880, which match germline mutations in Schinzel-Giedion syndrome (SGS), were detected in 17% of...

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Identifiers

PMID: 23832012
DOI: 10.1038/ng.2696
PMCID: PMC3729750

Genes

SETBP1

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