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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. 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

    Published on:

  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. Sensitive and reliable molecular diagnostics is needed to guide therapeutic decisions for cancer patients. Although less material becomes available for testing, genetic markers are rapidly expanding. Simultane...

    Authors: Elisabeth M. P. Steeghs, Leonie I. Kroeze, Bastiaan B. J. Tops, Leon C. van Kempen, Arja ter Elst, Annemiek W. M. Kastner-van Raaij, Sandra J. B. Hendriks-Cornelissen, Mandy J. W. Hermsen, Erik A. M. Jansen, Petra M. Nederlof, Ed Schuuring, Marjolijn J. L. Ligtenberg and Astrid Eijkelenboom

    Citation: BMC Cancer 2020 20:291

    Content type: Technical advance

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  29. Identifying molecular differences between primary and metastatic colorectal cancers—now possible with the aid of omics technologies—can improve our understanding of the biological mechanisms of cancer progress...

    Authors: Stephany Orjuela, Mirco Menigatti, Peter Schraml, Patryk Kambakamba, Mark D. Robinson and Giancarlo Marra

    Citation: BMC Cancer 2020 20:290

    Content type: Research article

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  30. Esophageal squamous cell carcinoma (ESCC) is an aggressive cancer with one of the highest world incidences in the Eastern Cape region of South Africa. Several genome wide studies have been performed on ESCC co...

    Authors: Jacqueline Brown, Andrzej J. Stepien and Pascale Willem

    Citation: BMC Cancer 2020 20:281

    Content type: Research article

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  31. Infiltrating immune and stromal cells are vital components of the bladder cancer (BC) microenvironment, which can significantly affect BC progression and outcome. However, the contribution of each subset of tu...

    Authors: Ye Zhang, De-hua Ou, Dong-wu Zhuang, Ze-feng Zheng and Ming-en Lin

    Citation: BMC Cancer 2020 20:265

    Content type: Research article

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  32. The human pancreatic cancer cell line A818–6 can be grown in vitro either as a highly malignant, undifferentiated monolayer (ML) or as three-dimensional (3D) single layer hollow spheres (HS) simulating a benig...

    Authors: Doaa Tawfik, Angela Zaccagnino, Alexander Bernt, Monika Szczepanowski, Wolfram Klapper, Albrecht Schwab, Holger Kalthoff and Anna Trauzold

    Citation: BMC Cancer 2020 20:264

    Content type: Research article

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  33. Invasive urothelial carcinoma (iUC) is highly similar between dogs and humans in terms of pathologic presentation, molecular subtypes, response to treatment and age at onset. Thus, the dog is an established an...

    Authors: Heidi G. Parker, Deepika Dhawan, Alex C. Harris, Jose A. Ramos-Vara, Brian W. Davis, Deborah W. Knapp and Elaine A. Ostrander

    Citation: BMC Cancer 2020 20:251

    Content type: Research article

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  34. Despite conflicting results, considerable evidence suggests the association between single nucleotide polymorphisms in MTHFR, XRCC1 and OGG1 genes and, risk of developing breast cancer. Here a case-control study ...

    Authors: Matteo Floris, Daria Sanna, Paolo Castiglia, Carlo Putzu, Valeria Sanna, Antonio Pazzola, Maria Rosaria De Miglio, Francesca Sanges, Giovanna Pira, Antonio Azara, Emanuele Lampis, Antonello Serra, Ciriaco Carru, Maristella Steri, Flavia Costanza, Marco Bisail…

    Citation: BMC Cancer 2020 20:234

    Content type: Research article

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  35. Oral squamous cell carcinoma (OSCC) is an aggressive human malignancy. Because of late diagnosis and recurrence of OSCC, the treatment of patients with OSCC is often ineffective. Thus, finding novel biomarkers...

    Authors: Ratakorn Srisuttee, Areeya Arayataweegool, Patnarin Mahattanasakul, Napadon Tangjaturonrasme, Virachai Kerekhanjanarong, Somboon Keelawat, Apiwat Mutirangura and Nakarin Kitkumthorn

    Citation: BMC Cancer 2020 20:218

    Content type: Research article

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  36. Poly (ADP-ribose) polymerase (PARP) inhibitors are approved for the treatment of breast cancer susceptibility genes 1 and 2 (BRCA1/2) mutant ovarian and breast cancers, and are now being evaluated in metastatic c...

    Authors: Andrew D. Simmons, Minh Nguyen and Elias Pintus

    Citation: BMC Cancer 2020 20:215

    Content type: Case report

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  37. The incidence of breast cancer among young women (aged ≤40 years) has increased in North America and Europe. Fewer than 10% of cases among young women are attributable to inherited BRCA1 or BRCA2 mutations, sugge...

    Authors: Nicole E. Mealey, Dylan E. O’Sullivan, Joy Pader, Yibing Ruan, Edwin Wang, May Lynn Quan and Darren R. Brenner

    Citation: BMC Cancer 2020 20:212

    Content type: Research article

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  38. Acute lymphoblastic leukemia (ALL), the most common childhood malignancy, is characterized by recurring structural chromosomal alterations and genetic alterations, whose detection is critical in diagnosis, ris...

    Authors: Honghong Zhang, Hongsheng Wang, Xiaowen Qian, Shuai Gao, Jieqi Xia, Junwen Liu, Yanqin Cheng, Jie Man and Xiaowen Zhai

    Citation: BMC Cancer 2020 20:211

    Content type: Research article

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  39. Classical MPNs including ET and PMF have a chronic course and potential for leukaemic transformation. Timely diagnosis is obligatory to ensure appropriate management and positive outcomes. The aim of this stud...

    Authors: Uzma Zaidi, Gul Sufaida, Munazza Rashid, Bushra Kaleem, Sidra Maqsood, Samina Naz Mukry, Rifat Zubair Ahmed Khan, Saima Munzir, Munira Borhany and Tahir Sultan Shamsi

    Citation: BMC Cancer 2020 20:205

    Content type: Research article

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  40. Poly (ADP-ribose) polymerase inhibitors targeting BRCA1/2 mutations are available for treating patients with high-grade serous ovarian cancer. These treatments may be more appropriately directed to patients who m...

    Authors: Kyung Jin Eoh, Hye Min Kim, Jung-Yun Lee, Sunghoon Kim, Sang Wun Kim, Young Tae Kim and Eun Ji Nam

    Citation: BMC Cancer 2020 20:204

    Content type: Research article

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  41. The fine-needle aspiration (FNA) biopsy was broadly applied to clinical diagnostics evaluation for thyroid carcinomas nodule, while companioning with higher uncertainty rate (15~30%) to identify malignancy for...

    Authors: Dandan Wu, Shudong Hu, Yongzhong Hou, Yingying He and Shubai Liu

    Citation: BMC Cancer 2020 20:199

    Content type: Research article

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  42. BRCA1/2 germline mutation related cancers are candidates for new immune therapeutic interventions. This study was a hypothesis generating exploration of genomic data collected at diagnosis for 19 patients. The...

    Authors: Ewa Przybytkowski, Thomas Davis, Abdelrahman Hosny, Julia Eismann, Ursula A. Matulonis, Gerburg M. Wulf and Sheida Nabavi

    Citation: BMC Cancer 2020 20:197

    Content type: Research article

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