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    Biomedicine & Pharmacotherapy
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    Association between histone lysine methyltransferase KMT2C Ku-0059436 and T clinicopathological factors in breast cancer
    Xiaoqing Chena,b,1, Guochun Zhangb,1, Bo Chenb,1, Yulei Wangb, Liping Guoa,b, Li Caob, Chongyang Renb, Lingzhu Wenb, Ning Liaoa,b,c, a The Second School of Clinical Medicine, Southern Medical University, Guangzhou, China b Department of Breast Cancer, Guangdong provincal people’s Hospital & Guangdong, Academy of Medical Sciences, Guangzhou, China c School of Medicine, South China University of Technology, Guangzhou, China
    Breast cancer
    KMT2C mutation
    Next-generation sequencing technique 
    As an important regulator of epigenetics, histone lysine methyltransferase 2C (KMT2C), is frequently mutated in multiple human cancers and is considered to be crucial for the occurrence and development of numerous can-cers. However, the relationship between KMT2C mutation and clinicopathological characteristics in patients with breast cancer is unclear. In the present study, we performed next-generation sequencing to investigate the mutation status of KMT2C in 411 treatment-naive Chinese patients with breast cancer at Guangdong Provincial People's Hospital (GDPH), and further compared the results to those of patients with breast cancer from The Cancer Genome Atlas (TCGA, n = 981) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC, n = 1454) cohorts. The KMT2C mutation rate was 8.0% (33/411) in the GDPH cohort, whereas that in the TCGA and the METABRIC cohorts was 7.0% (69/981) and 14.5% (211/1454), respectively. Nineteen novel mutations were observed in the GDPH cohort. KMT2C mutations were found to be significantly associated with patients older than 50 years (GDPH: p = 0.007; TCGA: p = 0.005; METABRIC: p = 0.015). The KMT2C mutation rate in HR+/HER2- breast cancer patients was higher than that in the other subtypes (GDPH: p = 0.047; TCGA: p = 0.032; METABRIC: p = 0.046). In addition, KMT2C mutations in the GDPH cohort were observed in invasive lobular breast cancer (ILC) at 30.8% (4/13). Further, KMT2C mutation was not found to be an independent risk factor in the prognosis of patients with breast cancer [TCGA: hazard ratio (HR), 1.71; 95% confidence interval (CI), 0.88–3.31; p = 0.111; METABRIC: HR, 2.03; 95% CI, 0.45–3.08; p = 0.419]. This is the first study to preliminarily elucidate the role of KMT2C mutations in Chinese patients with breast cancer and further identified significant KMT2C mutation differences according to race and ethnicity. KMT2C might be a susceptibility gene of Chinese patients with ILC that would help define high-risk groups that could benefit from adapted, personalized screening strategies.
    1. Introduction
    Breast cancer is the most common cancer among women worldwide [1] and is triggered by several risk factors. Its occurrence and devel-opment are multi-factorial and hormonal-dependent processes. The availability of sophisticated high-throughput technology, together with
    well-developed bioinformatics tools, has significantly accelerated our understanding of the molecular basis of cancer. Currently, gene ex-pression profiles are being used to support cancer treatment decisions Ku-0059436 [2,3]. Cancer is a genetic disease, accompanied by gene mutations or ab-normal expression patterns. However, in recent years, increasing
    Abbreviations: ER, estrogen receptor; PR, progesterone receptor; HR, hormonal receptor; HER2, human epidermal growth factor receptor 2; HR+/HER2-, HR positive and HER2 negative; HR-/HER2+, HR negative and HER2 positive; HR+/HER2+, HR positive and HER2 positive; AR, androgen receptor; IDC, infiltrating ductal carcinoma; ILC, infiltrating lobular carcinoma; FISH, fluorescence in situ hybridization; NGS, next generation sequencing; OS, overall survival; GDPH, Guangdong Provincial People's Hospital; TCGA, The Cancer Genome Atlas; METABRIC, Molecular Taxonomy of Breast Cancer International Consortium; PH, pro-portional hazard; KMT2C, Lysine Methyltransferase 2C; MLL3, Myeloid/lymphoid or mixed-lineage leukemia protein 3; MT, mutant; WT, wild-type; NA, not ap-plicable