RGD Reference Report - Exome sequencing identifies frequent mutation of MLL2 in non-small cell lung carcinoma from Chinese patients. - Rat Genome Database

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Exome sequencing identifies frequent mutation of MLL2 in non-small cell lung carcinoma from Chinese patients.

Authors: Yin, Shanye  Yang, Jing  Lin, Bin  Deng, Wenjun  Zhang, Yuchao  Yi, Xianfu  Shi, Yufang  Tao, Yong  Cai, Jun  Wu, Chung-I  Zhao, Guoping  Hurst, Laurence D  Zhang, Jie  Hu, Landian  Kong, Xiangyin 
Citation: Yin S, etal., Sci Rep. 2014 Aug 12;4:6036. doi: 10.1038/srep06036.
RGD ID: 150523769
Pubmed: PMID:25112956   (View Abstract at PubMed)
PMCID: PMC5381403   (View Article at PubMed Central)
DOI: DOI:10.1038/srep06036   (Journal Full-text)

Lung cancer is the most common cause of cancer mortality worldwide, with an estimated 1.4 million deaths each year. Here we report whole-exome sequencing of nine tumor/normal tissue pairs from Chinese patients with non-small cell lung carcinoma (NSCLC). This allows us to identify a number of significantly mutated genes in NSCLC, which were highly enriched in DNA damage repair, NF-κB pathway, JAK/STAT signaling and chromatin modification. Notably, we identify a histone-lysine methyltransferase gene, namely, MLL2, as one of the most significantly mutated genes in our screen. In a following validation study, we identify deleterious mutations of MLL2 in 12 out of 105 (11.4%) NSCLC patients. Additionally, reduced or lost expression of MLL2 was commonly observed in tumor tissues as compared with paired adjacent non-tumor tissues regardless of mutation status. Together, our study defines the landscape of somatic mutations in Chinese NSCLC and supports the role of MLL2 mutation in the pathogenesis of the disease.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
KMT2DHumanlung non-small cell carcinoma  IAGP DNA more ...RGD 
Kmt2dMouselung non-small cell carcinoma  ISOKMT2D (Homo sapiens)DNA more ...RGD 
Kmt2dRatlung non-small cell carcinoma  ISOKMT2D (Homo sapiens)DNA more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Kmt2d  (lysine methyltransferase 2D)

Genes (Mus musculus)
Kmt2d  (lysine (K)-specific methyltransferase 2D)

Genes (Homo sapiens)
KMT2D  (lysine methyltransferase 2D)


Additional Information