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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. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. Trichilemmal carcinoma (TC) is an extremely rare hair follicle tumor. We aimed to explore the genetic abnormalities involved in TC to gain insight into its molecular pathogenesis.

    Authors: Jeong Hyun Ha, Cheol Lee, Kyu Sang Lee, Chang-sik Pak, Choong-Hyun Sun, Youngil Koh and Hak Chang

    Citation: BMC Cancer 2020 20:516

    Content type: Research article

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  26. Stomach cancer (SC) is a type of cancer, which is derived from the stomach mucous membrane. As there are non-specific symptoms or no noticeable symptoms observed at the early stage, newly diagnosed SC cases us...

    Authors: Erli Gu, Wei Song, Ajing Liu and Hong Wang

    Citation: BMC Cancer 2020 20:490

    Content type: Database

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  27. MassARRAY (Agena Bioscience™) combines competitive PCR with MALDI-TOF mass spectrometry (MS) analysis that gives highly accurate, sensitive, and high-throughput methods for the quantitative analysis of variati...

    Authors: Ruchi Shah, Varun Sharma, Amrita Bhat, Hemender Singh, Indu Sharma, Sonali Verma, Gh. Rasool Bhat, Bhanu Sharma, Divya Bakshi, Rakesh Kumar and Nazir Ahmed Dar

    Citation: BMC Cancer 2020 20:497

    Content type: Research article

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  28. The CYP19A1 gene, which encodes the enzyme responsible for androgen aromatization into estrogens, may play an important role in breast cancer aggressiveness. However, no study has evaluated CYP19A1 gene expressio...

    Authors: Maria da Conceição Barros-Oliveira, Danylo Rafhael Costa-Silva, Larysse Cardoso Campos-Verdes, Renato de Oliveira Pereira, Rozirene Araújo Silva, Paulo de Tarso Moura-Borges, Emerson Brandão Sousa, André Luiz Pinho-Sobral, Pedro Vitor Lopes-Costa, Alesse Ribeiro dos Santos, Ione Maria Ribeiro Soares-Lopes, Jackeline Lopes Viana, Mariella de Almeida Melo, Fidelis Manes Neto, Eid Gonçalves Coelho, Maria do Socorro Pires e Cruz…

    Citation: BMC Cancer 2020 20:480

    Content type: Research article

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  29. Acute myeloid leukemia (AML) is a heterogenic lethal disorder characterized by the accumulation of abnormal myeloid progenitor cells in the bone marrow which results in hematopoietic failure. Despite various e...

    Authors: Paulina Gil-Kulik, Ewa Dudzińska, Elżbieta Radzikowska-Büchner, Joanna Wawer, Mariusz Jojczuk, Adam Nogalski, Genowefa Anna Wawer, Marcin Feldo, Wojciech Kocki, Maria Cioch, Anna Bogucka-Kocka, Mansur Rahnama and Janusz Kocki

    Citation: BMC Cancer 2020 20:435

    Content type: Research article

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  30. KRAS mutations have been characterized as the major predictive biomarkers for resistance to cetuximab treatment. However, studies indicate that not all KRAS mutations are associated with equivalent treatment o...

    Authors: Hangyu Zhang, Liyun Yuan, Lulu Liu, Cong Yan, Jinming Cheng, Qihan Fu, Zhou Tong, Weiqin Jiang, Yi Zheng, Peng Zhao, Guoqing Zhang and Weijia Fang

    Citation: BMC Cancer 2020 20:416

    Content type: Research article

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  31. A major impediment in the treatment of ovarian cancer is the relapse of chemotherapy-resistant tumors, which occurs in approximately 25% of patients. A better understanding of the biological mechanisms underly...

    Authors: Jihoon Choi, Danai G. Topouza, Anastasiya Tarnouskaya, Sean Nesdoly, Madhuri Koti and Qing Ling Duan

    Citation: BMC Cancer 2020 20:413

    Content type: Research article

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  32. Single nucleotide polymorphisms (SNPs) in DNA repair genes have a potential clinical value in predicting treatment outcomes. In the current study, we examined the association of SNPs in the genes XRCC1-rs25487...

    Authors: Hamideh Salimzadeh, Elinor Bexe Lindskog, Bengt Gustavsson, Yvonne Wettergren and David Ljungman

    Citation: BMC Cancer 2020 20:409

    Content type: Research article

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  33. Recent genome-wide association studies (GWASs) have suggested several susceptibility loci of hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC) by statistical analysis at individual single-nucleoti...

    Authors: Deke Jiang, Jiaen Deng, Changzheng Dong, Xiaopin Ma, Qianyi Xiao, Bin Zhou, Chou Yang, Lin Wei, Carly Conran, S. Lilly Zheng, Irene Oi-lin Ng, Long Yu, Jianfeng Xu, Pak C. Sham, Xiaolong Qi, Jinlin Hou…

    Citation: BMC Cancer 2020 20:403

    Content type: Research article

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  34. Mucinous adenocarcinoma (MAC) is a distinct type of colorectal cancer (CRC) associated with poor response to treatment and poorer prognosis. MAC is diagnosed by WHO definition when the extracellular mucin is m...

    Authors: Xiaodong Li, Katherine Sun, Xiaoyan Liao, Haijuan Gao, Hongfa Zhu and Ruliang Xu

    Citation: BMC Cancer 2020 20:400

    Content type: Research article

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  35. Pathogenic variants that occur in the familial breast cancer genes (BRCA1/2) lead to truncated ineffective proteins in the majority of cases. These variants are mostly represented by small deletions/insertions, n...

    Authors: Nerina C. van der Merwe, Jaco Oosthuizen, Magdalena Theron, George Chong and William D. Foulkes

    Citation: BMC Cancer 2020 20:391

    Content type: Research article

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  36. Osteosarcoma (OS) is the most frequent primary malignancy of bone with a high incidence in adolescence. This study aimed to construct a publicly available, integrated database of human OS, named HOsDb.

    Authors: Yifu Sun, Lishan Wang, Changkuan Li, Rui Gu, Weidong Zang, Wei Song and Peng Xia

    Citation: BMC Cancer 2020 20:390

    Content type: Database

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  37. To assess metastatic breast cancer (MBC) patient psychological factors, perceptions, and comprehension of tumor genomic testing.

    Authors: Elizabeth J. Adams, Sarah Asad, Raquel Reinbolt, Katharine A. Collier, Mahmoud Abdel-Rasoul, Susan Gillespie, James L. Chen, Mathew A. Cherian, Anne M. Noonan, Sagar Sardesai, Jeffrey VanDeusen, Robert Wesolowski, Nicole Williams, Charles L. Shapiro, Erin R. Macrae, Robert Pilarski…

    Citation: BMC Cancer 2020 20:389

    Content type: Research article

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  38. Familial cases of appendiceal mucinous tumours (AMTs) are extremely rare and the underlying genetic aetiology uncertain. We identified potential predisposing germline genetic variants in a father and daughter ...

    Authors: Mei Sim Lung, Catherine A. Mitchell, Maria A. Doyle, Andrew C. Lynch, Kylie L. Gorringe, David D. L. Bowtell, Ian G. Campbell and Alison H. Trainer

    Citation: BMC Cancer 2020 20:369

    Content type: Research article

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  39. Antigen-processing machinery molecules play crucial roles in infectious diseases and cancers. Studies have shown that polymorphisms in endoplasmic reticulum aminopeptidase (ERAP) genes can influence the enzyma...

    Authors: Chuanyin Li, Yaheng Li, Zhiling Yan, Shuying Dai, Shuyuan Liu, Xia Wang, Jun Wang, Xinwen Zhang, Li Shi and Yufeng Yao

    Citation: BMC Cancer 2020 20:341

    Content type: Research article

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  40. Cervical cancer is caused by high-risk Human Papillomavirus (hr-HPV) infection associated with cofactors that has been analyzed as predictors of the remission or persistence of cytological abnormalities remiss...

    Authors: Nayara Nascimento Toledo Silva, Ana Carolina Silva Santos, Verlândia Mendes Nogueira, Cláudia Martins Carneiro and Angélica Alves Lima

    Citation: BMC Cancer 2020 20:323

    Content type: Research article

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  41. RIPK1 (receptor-interacting protein kinase-1) plays a role in cancer development, whereas no clear studies focused on the cervical cancer. The objective of this study was to evaluate the relationship between RIPK...

    Authors: Zulipiyamu Tuoheti, Lili Han, Sulaiya Husaiyin, Xiaoxi Liu, Chunhua Ma and Mayinuer Niyazi

    Citation: BMC Cancer 2020 20:299

    Content type: Research article

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  42. To screen and analyze differentially expressed genes in pancreatic carcinoma tissues taken from Mongolian and Han patients by Affymetrix Genechip. Methods: Pancreatic ductal cell carcinoma tissues were collect...

    Authors: Jiasheng Xu, Kaili Liao, Zhonghua Fu and Zhenfang Xiong

    Citation: BMC Cancer 2020 20:298

    Content type: Research article

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