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Genetics, genomics and epigenetics

This section considers articles on all aspects of genome-scale analysis, functional genomics, genetic association studies, pharmacogenomics and epigenetics in relation to cancer biology, diagnosis and therapy.

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  1. Aggressive systemic mastocytosis (ASM) is a rare malignant disease characterized by disordered mast cell accumulation in various organs. We here describe a female ASM patient with a previous history of ovarian...

    Authors: Makiko Tsutsumi, Hiroki Miura, Hidehito Inagaki, Yasuko Shinkai, Asuka Kato, Takema Kato, Susumu Hamada-Tsutsumi, Makito Tanaka, Kazuko Kudo, Tetsushi Yoshikawa and Hiroki Kurahashi

    Citation: BMC Cancer 2020 20:1162

    Content type: Research article

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  2. Research focusing on the relationship between five types of tumor necrosis factor-alpha (TNF-α) SNPs and the risk of hepatocellular carcinoma (HCC) were still controversial. Hereby, we performed a meta-analysi...

    Authors: Citrawati Dyah Kencono Wungu, Fis Citra Ariyanto, Gwenny Ichsan Prabowo, Soetjipto and Retno Handajani

    Citation: BMC Cancer 2020 20:1134

    Content type: Research article

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  3. Hepatocellular carcinoma (HCC) and pancreatic ductal adenocarcinoma (PDAC) are malignancies with a leading lethality. With reference to interferons (IFNs) known to mediate antitumor activities, this study inve...

    Authors: Henriette Huschka and Sabine Mihm

    Citation: BMC Cancer 2020 20:1131

    Content type: Research article

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  4. Resistance to chemotherapy is the most common cause of treatment failure in acute myeloid leukemia (AML) and the drug efflux pump ABCB1 is a critical mediator. Recent studies have identified promoter transloca...

    Authors: Mark S. Williams, Naseer J. Basma, Fabio M. R. Amaral, Gillian Williams, John P. Weightman, Wolfgang Breitwieser, Louisa Nelson, Stephen S. Taylor, Daniel H. Wiseman and Tim C. P. Somervaille

    Citation: BMC Cancer 2020 20:1075

    Content type: Research article

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  5. The nuclear transport system has been proposed to be indispensable for cell proliferation and invasion in cancers. Prognostic biomarkers and molecular targets in nuclear transport systems have been developed. ...

    Authors: Zheng Zhu, Yang Lan, Lihong Wang, Jia Ge, Jiao Wang, Feng Liu, Zhicheng He, Hua Zhang, Min Luo, Dandan Lin, Yaoyao Tan, Yuanyuan Xu and Tao Luo

    Citation: BMC Cancer 2020 20:1072

    Content type: Research article

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  6. Melanoma is the most aggressive type of skin cancer and is associated with environmental and genetic risk factors. It originates in melanocytes, the pigment-producing cells. Single nucleotide polymorphisms (SN...

    Authors: Larissa B. Reis, Renato M. Bakos, Fernanda S. L. Vianna, Gabriel S. Macedo, Vanessa C. Jacovas, André M. Ribeiro-dos-Santos, Sidney Santos, Lúcio Bakos and Patricia Ashton-Prolla

    Citation: BMC Cancer 2020 20:1069

    Content type: Research article

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  7. Germline TP53 mutations are associated with Li-Fraumeni syndrome, a severe and rare hereditary cancer syndrome. Despite the rarity of germline TP53 mutations, the clinical implication for mutation carriers and th...

    Authors: Ava Kwong, Vivian Yvonne Shin, Cecilia Y. S. Ho, Chun Hang Au, Thomas P. Slavin, Jeffrey N. Weitzel, Tsun-Leung Chan and Edmond S. K. Ma

    Citation: BMC Cancer 2020 20:1053

    Content type: Research article

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  8. β-catenin activation plays a crucial role for tumourigenesis in the large intestine but except for Lynch syndrome (LS) associated cancers stabilizing mutations of β-catenin gene (CTNNB1) are rare in colorectal ca...

    Authors: Alexander Arnold, Moritz Tronser, Christine Sers, Aysel Ahadova, Volker Endris, Soulafa Mamlouk, David Horst, Markus Möbs, Philip Bischoff, Matthias Kloor and Hendrik Bläker

    Citation: BMC Cancer 2020 20:1038

    Content type: Research article

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    The Correction to this article has been published in BMC Cancer 2020 20:1151

  9. Treating patients with advanced sarcomas is challenging due to great histologic diversity among its subtypes. Leiomyosarcoma (LMS) and de-differentiated liposarcoma (DDLPS) are two common and aggressive subtyp...

    Authors: Wenshuai Liu, Hanxing Tong, Chenlu Zhang, Rongyuan Zhuang, He Guo, Chentao Lv, Hua Yang, Qiaowei Lin, Xi Guo, Zhiming Wang, Yan Wang, Feng Shen, Shengzhou Wang, Chun Dai, Guan Wang, Jun Liu…

    Citation: BMC Cancer 2020 20:1035

    Content type: Research article

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  10. Circular RNAs (circRNAs) have emerged as a novel category of non-coding RNA, which exhibit a pivotal effect on regulating gene expression and biological functions, yet how circRNAs function in osteosarcoma (OS...

    Authors: Houkun Li, Limin He, Yuan Tuo, Yansheng Huang and Bing Qian

    Citation: BMC Cancer 2020 20:1026

    Content type: Research article

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  11. Loss of the genomic stability jeopardize genome stability and promote malignancies. A fraction of ovarian cancer (OvCa) arises from pathological mutations of DNA repair genes that result in highly mutagenic ge...

    Authors: Liang Song, Zizhi Tang, Changsheng Peng, Yueming Yang, Chang Guo, Danqing Wang, Liandi Guo, Jie Chen and Cong Liu

    Citation: BMC Cancer 2020 20:1020

    Content type: Research article

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  12. Immune-related genes is closely related to the occurrence and prognosis of head and neck squamous cell carcinoma (HNSCC). At the same time, immune-related genes have great potential as prognostic markers in ma...

    Authors: Fujun Zhang, Yu Liu, Yixin Yang and Kai Yang

    Citation: BMC Cancer 2020 20:1015

    Content type: Research article

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  13. In recent years, the differences between left-sided colon cancer (LCC) and right-sided colon cancer (RCC) have received increasing attention due to the clinicopathological variation between them. However, some...

    Authors: Yimei Jiang, Xiaowei Yan, Kun Liu, Yiqing Shi, Changgang Wang, Jiele Hu, You Li, Qinghua Wu, Ming Xiang and Ren Zhao

    Citation: BMC Cancer 2020 20:1012

    Content type: Research article

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  14. Angiogenesis is important for the progression of gastric cancer (GC). Y-box binding protein 1 (YB-1) predicts advanced disease and indicates neovasculature formation in GC tissues, while the related mechanisms...

    Authors: Xiaoxia Xue, Jin Huang, Kai Yu, Xinyue Chen, Yini He, Dianjun Qi and Ying Wu

    Citation: BMC Cancer 2020 20:996

    Content type: Research article

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  15. Idiopathic pulmonary fibrosis (IPF) is associated with an increased risk for lung cancer, but the underlying mechanisms driving malignant transformation remain largely unknown. This study aimed to identify dif...

    Authors: Dong Leng, Jiawen Yi, Maodong Xiang, Hongying Zhao and Yuhui Zhang

    Citation: BMC Cancer 2020 20:986

    Content type: Research article

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  16. It is well acknowledged that cancer-related pathways play pivotal roles in the progression of pancreatic cancer (PC). Employing Integrated analysis, we aim to identify the pathway-related ceRNA network associa...

    Authors: Fuqiang Zu, Peng Liu, Huaitao Wang, Ting Zhu, Jian Sun, Weiwei Sheng and Xiaodong Tan

    Citation: BMC Cancer 2020 20:958

    Content type: Research article

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  17. Proctitis is an inflammation of the rectum and may be induced by radiation treatment for cancer. The genetic heritability of developing radiotoxicity and prior role of genetic variants as being associated with...

    Authors: Gita A. Pathak, Renato Polimanti, Talisa K. Silzer, Frank R. Wendt, Ranajit Chakraborty and Nicole R. Phillips

    Citation: BMC Cancer 2020 20:954

    Content type: Research article

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  18. Early treatment of patients at risk for developing aggressive prostate cancer is able to delay metastasis and reduce mortality; as such, up-front identification of these patients is critical. Several risk clas...

    Authors: Shivani Kamdar, Neil E. Fleshner and Bharati Bapat

    Citation: BMC Cancer 2020 20:953

    Content type: Research article

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  19. Circulating tumor (ct) DNA assays performed in clinical laboratories provide tumor biomarker testing support for biopharmaceutical clinical trials. Yet it is neither practical nor economically feasible for man...

    Authors: Suman Verma, Mathew W. Moore, Rebecca Ringler, Abhisek Ghosal, Kyle Horvath, Theodore Naef, Sheri Anvari, Philip D. Cotter and Shelly Gunn

    Citation: BMC Cancer 2020 20:945

    Content type: Technical advance

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  20. Human skin cutaneous melanoma is the most common and dangerous skin tumour, but its pathogenesis is still unclear. Although some progress has been made in genetic research, no molecular indicators related to t...

    Authors: Junyou Zhu, Jin Deng, Lijun Zhang, Jingling Zhao, Fei Zhou, Ning Liu, Ruizhao Cai, Jun Wu, Bin Shu and Shaohai Qi

    Citation: BMC Cancer 2020 20:927

    Content type: Research article

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  21. To date, the contribution of BRCA1/2 mutations in Moroccan early onset breast cancer patients remains unknown. Here we assess these genetic alterations for the first time in a cohort from North of Morocco.

    Authors: Joaira Bakkach, Mohamed Mansouri, Touria Derkaoui, Ali Loudiyi, ElMostafa El Fahime, Amina Barakat, Naima Ghailani Nourouti, Jaime Martinez De Villarreal, Carlos Cortijo Bringas and Mohcine Bennani Mechita

    Citation: BMC Cancer 2020 20:859

    Content type: Research article

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  22. Germline copy number variants (CNVs) increase risk for many diseases, yet detection of CNVs and quantifying their contribution to disease risk in large-scale studies is challenging due to biological and techni...

    Authors: Stephen Cristiano, David McKean, Jacob Carey, Paige Bracci, Paul Brennan, Michael Chou, Mengmeng Du, Steven Gallinger, Michael G. Goggins, Manal M. Hassan, Rayjean J. Hung, Robert C. Kurtz, Donghui Li, Lingeng Lu, Rachel Neale, Sara Olson…

    Citation: BMC Cancer 2020 20:856

    Content type: Research article

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  23. There are profound individual differences in clinical outcomes between colorectal cancers (CRCs) presenting with identical stage of disease. Molecular stratification, in conjunction with the traditional TNM st...

    Authors: R. R. J. Coebergh van den Braak, S. ten Hoorn, A. M. Sieuwerts, J. B. Tuynman, M. Smid, S. M. Wilting, J. W. M. Martens, C. J. A. Punt, J. A. Foekens, J. P. Medema, J. N. M. IJzermans and L. Vermeulen

    Citation: BMC Cancer 2020 20:850

    Content type: Research article

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  24. Long noncoding RNAs (lncRNA) play a role in leukemogenesis, maintenance, development, and therapeutic resistance of AML. While few studies have focused on the prognostic significance of LINC00649 in AML, which...

    Authors: Chao Guo, Ya-yue Gao, Qian-qian Ju, Chun-xia Zhang, Ming Gong and Zhen-ling Li

    Citation: BMC Cancer 2020 20:841

    Content type: Research article

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  25. Breast cancer (BC) is a malignant tumor that occurs in the epithelial tissue of the breast gland. Long non-coding RNA (lncRNA) small nucleolar RNA host gene 3 (SNHG3) has been found to promote BC cell prolifer...

    Authors: Hongnan Jiang, Xiaojun Li, Wei Wang and Honglin Dong

    Citation: BMC Cancer 2020 20:838

    Content type: Research article

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  26. Several works suggest the importance of autophagy during esophageal carcinoma development. The aim of the study is to construct a scoring system according to the expression profiles of major autophagy-related ...

    Authors: Chongxiang Chen, Siliang Chen, Huijiao Cao, Jiaojiao Wang, Tianmeng Wen, Xiaochun Hu and Huan Li

    Citation: BMC Cancer 2020 20:797

    Content type: Research article

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  27. Head and neck squamous cell carcinoma (HNSCC) is the sixth most common tumor in human. Research has shown that HPV status HNSCC is a unique prognosis factor, which may due to its immune infiltration landscape....

    Authors: Hao Zeng, Xindi Song, Jianrui Ji, Linyan Chen, Qimeng Liao and Xuelei Ma

    Citation: BMC Cancer 2020 20:796

    Content type: Research article

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  28. MEIS1 (Myeloid ecotropic viral integration site 1) as a homeobox (HOX) transcription factor plays regulatory roles in a variety of cellular processes including development, differentiation, survival, apoptosis...

    Authors: Selma Zargari, Shabnam Negahban Khameneh, Abolfazl Rad and Mohammad Mahdi Forghanifard

    Citation: BMC Cancer 2020 20:789

    Content type: Research article

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  29. The AMP-activated protein kinase (AMPK) is an evolutionarily conserved regulator of cellular energy homeostasis. As a nexus for transducing metabolic signals, AMPK cooperates with other energy-sensing pathways...

    Authors: Wai Hoong Chang and Alvina G. Lai

    Citation: BMC Cancer 2020 20:773

    Content type: Research article

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  30. Hereditary breast and ovarian cancer (HBOC) is an autosomal dominant inherited cancer susceptibility disorder. Both BRCA1 and BRCA2 genes are considered as high penetrance genes of this syndrome. The identificati...

    Authors: Fatima Zahra El Ansari, Farah Jouali, Nabila Marchoudi, Mohcine Mechita Bennani, Naima Nourouti Ghailani, Amina Barakat and Jamal Fekkak

    Citation: BMC Cancer 2020 20:747

    Content type: Research article

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  31. Lung cancer is the number one cancer killer worldwide. A major drawback in the lung cancer treatment field is the lack of realistic mouse models that replicate the complexity of human malignancy and immune con...

    Authors: Julian Ramelow, Christopher D. Brooks, Li Gao, Abeer A. Almiman, Terence M. Williams, Miguel A. Villalona-Calero and Wenrui Duan

    Citation: BMC Cancer 2020 20:738

    Content type: Research article

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  32. Previous reports indicate that the methylenetetrahydrofolate reductase (MTHFR) 677C > T polymorphism plays a role in gastric cancer. However, whether it influences the development and progression of atrophic g...

    Authors: Siya Kong, Feng Ye, Yini Dang, Yifei Hua and Guoxin Zhang

    Citation: BMC Cancer 2020 20:725

    Content type: Research article

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  33. Diffuse large B-cell lymphoma (DLBCL) is a spectrum of disease comprising more than 30% of non-Hodgkin lymphomas. Although studies have identified several molecular subgroups, the heterogeneous genetic backgro...

    Authors: Wei Zhang, Li Yang, Yu’ Qi Guan, Ke’ Feng Shen, Mei’ Lan Zhang, Hao’ Dong Cai, Jia’ Chen Wang, Ying Wang, Liang Huang, Yang Cao, Na Wang, Xiao’ Hong Tan, Ken He Young, Min Xiao and Jian’ Feng Zhou

    Citation: BMC Cancer 2020 20:714

    Content type: Research article

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  34. Studies have shown that abnormal changes of specific-gene DNA methylation in leukocytes may be associated with an elevated risk of cancer. However, associations between the methylation of the zinc-related genes,

    Authors: Anqi Ge, Song Gao, Yupeng Liu, Hui Zhang, Xuan Wang, Lei Zhang, Da Pang and Yashuang Zhao

    Citation: BMC Cancer 2020 20:713

    Content type: Research article

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  35. It has previously been shown that bevacizumab, when added to chemotherapy, improved overall survival in several cancers. In glioblastoma multiforme (GBM), bevacizumab increased progression-free survival and it...

    Authors: Chiung-Chyi Shen, Wen-Yu Cheng, Chung-Hsin Lee, Xue-Jun Dai, Ming-Tsang Chiao, Yea-Jiuen Liang, Wan-Yu Hsieh, Tsuo-Fei Mao, Guo-Shi Lin, Shou-Ren Chen, Bai-Shuan Liu and Jun-Peng Chen

    Citation: BMC Cancer 2020 20:709

    Content type: Research article

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  36. Early diagnosis and continuous monitoring are necessary for an efficient management of cervical cancers (CC). Liquid biopsy, such as detecting circulating tumor DNA (ctDNA) from blood, is a simple, non-invasiv...

    Authors: Sun-Young Lee, Dong-Kyu Chae, Sung-Hun Lee, Yohan Lim, Jahyun An, Chang Hoon Chae, Byung Chul Kim, Jong Bhak, Dan Bolser and Dong-Hyu Cho

    Citation: BMC Cancer 2020 20:694

    Content type: Research article

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  37. Differential DNA methylation panel derived from peripheral blood could serve as biomarkers of CRC susceptibility. However, most of the previous studies utilized post-diagnostic blood DNA which may be markers o...

    Authors: Justina Ucheojor Onwuka, Dapeng Li, Yupeng Liu, Hao Huang, Jing Xu, Ying Liu, Yuanyuan Zhang and Yashuang Zhao

    Citation: BMC Cancer 2020 20:692

    Content type: Research article

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  38. This study profiled the somatic genes mutations and the copy number variations (CNVs) in cerebrospinal fluid (CSF)-circulating tumor DNA (ctDNA) from patients with neoplastic meningitis (NM).

    Authors: Yue Zhao, Jun Ying He, Jun Zhao Cui, Zi-Qi Meng, Yue Li Zou, Xiao Su Guo, Xin Chen, Xueliang Wang, Li-Tian Yan, Wei Xin Han, Chunyan Li, Li Guo and Hui Bu

    Citation: BMC Cancer 2020 20:690

    Content type: Research article

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  39. Estrogen receptor (ER) positive breast cancer is often effectively treated with drugs that inhibit ER signaling, i.e., tamoxifen (TAM) and aromatase inhibitors (AIs). However, 30% of ER+ breast cancer patients...

    Authors: Maryam Soleimani Dodaran, Simone Borgoni, Emre Sofyalı, Pernette J. Verschure, Stefan Wiemann, Perry D. Moerland and Antoine H. C. van Kampen

    Citation: BMC Cancer 2020 20:676

    Content type: Research article

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  40. LncRNA MEG3 expressed abnormally in various cancers including breast cancer, but no studies reported the correlation between MEG3 SNPs and breast cancer susceptibility among Chinese women.

    Authors: Yi Zheng, Meng Wang, Shuqian Wang, Peng Xu, Yujiao Deng, Shuai Lin, Na Li, Kang Liu, Yuyao Zhu, Zhen Zhai, Ying Wu, Zhijun Dai and Gaixia Zhu

    Citation: BMC Cancer 2020 20:659

    Content type: Research article

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  41. Pancreatic ductal adenocarcinoma (PDAC) is one of the most aggressive forms of malignancies with a nearly equal incidence and mortality rates in patients. Pancreatic stellate cells (PSCs) are critical players ...

    Authors: Shatovisha Dey, Sheng Liu, Tricia D. Factora, Solaema Taleb, Primavera Riverahernandez, Lata Udari, Xiaoling Zhong, Jun Wan and Janaiah Kota

    Citation: BMC Cancer 2020 20:651

    Content type: Research article

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  42. Prostate Cancer (PCa) is the second most common cancer in men where advancements have been made for early detection using imaging techniques, however these are limited by lesion size. Immune surveillance has e...

    Authors: Ali Mehdi, David Cheishvili, Ani Arakelian, Tarek A. Bismar, Moshe Szyf and Shafaat A. Rabbani

    Citation: BMC Cancer 2020 20:588

    Content type: Research article

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  43. HOXA family genes were crucial transcription factors involving cell proliferation and apoptosis. While few studies have focused on HOXA10 in AML. We aimed to investigate the prognostic significance of HOXA10.

    Authors: Chao Guo, Qian-qian Ju, Chun-xia Zhang, Ming Gong, Zhen-ling Li and Ya-yue Gao

    Citation: BMC Cancer 2020 20:586

    Content type: Research article

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  44. 5-Fluorouracil (5-FU) and capecitabine are fluoropyrimidine derivatives that mainly metabolized with dihydropyrimidine dehydrogenase enzyme (DPD). The genetic polymorphism in the genes encoding this enzyme may...

    Authors: Reza Negarandeh, Ebrahim Salehifar, Fatemeh Saghafi, Hossein Jalali, Ghasem Janbabaei, Mohammad Javad Abdhaghighi and Anahita Nosrati

    Citation: BMC Cancer 2020 20:560

    Content type: Research article

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