Identification of functional cooperative mutations of SETD2 in human acute leukemia.

doi:10.1038/ng.2894

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Article

Identification of functional cooperative mutations of SETD2 in human acute leukemia.

Nature genetics - 1 Mar 2014

Zhu Xiaofan, He Fuhong, Zeng Huimin, Ling Shaoping, Chen Aili, Wang Yaqin, Yan Xiaomei, Wei Wei, Pang Yakun, Cheng Hui, Hua Chunlan, Zhang Yue, Yang Xuejing, Lu Xin, Cao Lihua, Hao Lingtong, Dong Lili, Zou Wei, Wu Jun, Li Xia, Zheng Si, Yan Jin, Zhou Jing, Zhang Lixia, Mi Shuangli, Wang Xiaojuan, Zhang Li, Zou Yao, Chen Yumei, Geng Zhe, Wang Jianmin, Zhou Jianfeng, Liu Xin, Wang Jianxiang, Yuan Weiping, Huang Gang, Cheng Tao, Wang Qian-Fei

Abstract excerpt

Acute leukemia characterized by chromosomal rearrangements requires additional molecular disruptions to develop into full-blown malignancy, yet the cooperative mechanisms remain elusive. Using whole-genome sequencing of a pair of monozygotic twins discordant for MLL (also called KMT2A) gene-rearranged leukemia, we identified a transforming MLL-NRIP3 fusion gene and biallelic mutations in SETD2 (encoding a histone...

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Identifiers

PMID: 24509477
DOI: 10.1038/ng.2894
PMCID: PMC4440318

Genes

SETD2
NRIP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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