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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. 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

    Published on:

  2. 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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  3. Donor acute lymphoblastic leukemia with recipient intact is a rare condition. We report a case of donor developing acute lymphoblastic leukemia 8 yrs after donating both bone marrow and peripheral blood hemato...

    Authors: Di Zhou, Ting Xie, Suning Chen, Yipeng Ling, Yueyi Xu, Bing Chen, Jian Ouyang and Yonggong Yang

    Citation: BMC Cancer 2020 20:195

    Content type: Case report

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  4. Altered glycosylation associated with hepatocellular carcinoma (HCC) is well documented. However, few reports have investigated the association between dedifferentiation and glycosylation. Therefore, the aim o...

    Authors: Hiroomi Takayama, Masayuki Ohta, Yukio Iwashita, Hiroki Uchida, Yuki Shitomi, Kazuhiro Yada and Masafumi Inomata

    Citation: BMC Cancer 2020 20:192

    Content type: Research article

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  5. This case represents the first report of malignant primary cardiac tumour in a patient with Lynch Syndrome associated with MSH2 pathogenic variant.

    Authors: Pasquale Paolisso, Giulia Saturi, Alberto Foà, Maristella Saponara, Margherita Nannini, Maria Abbondanza Pantaleo, Ornella Leone, Daniela Turchetti, Daniele Calistri, Carlo Savini, Davide Pacini, Carmine Pizzi and Nazzareno Galiè

    Citation: BMC Cancer 2020 20:191

    Content type: Case report

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  6. CYP2A6 is an enzyme involved in oxidation of a number of environmental chemicals, including nicotine, pro-carcinogenic nitrosamines and polycyclic aromatic hydrocarbons (PAHs). The whole gene deletion of CYP2A...

    Authors: Maidina Abudushataer, Noriko Sato, Makiko Mieno, Motoji Sawabe, Masaaki Muramatsu and Tomio Arai

    Citation: BMC Cancer 2020 20:186

    Content type: Research article

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  7. Hepatocellular carcinoma (HCC) is the second most common cause of cancer-related death in the world. N6-methyladenosine (m6A) RNA methylation is dynamically regulated by m6A RNA methylation modulators (“writer,” ...

    Authors: Nanfang Qu, Sanyu Qin, Xuemei Zhang, Xiaotong Bo, Zhengchun Liu, Chao Tan, Guiqiong Wen and Haixing Jiang

    Citation: BMC Cancer 2020 20:165

    Content type: Research article

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  8. The loss of a single copy of adenomatous polyposis coli (Apc) in leucine-rich repeats and immunoglobulin-like domains 1 (Lrig1)-expressing colonic progenitor cells induces rapid growth of adenomas in mice with hi...

    Authors: Jessica L. Preston and Nicholas Stiffler

    Citation: BMC Cancer 2020 20:126

    Content type: Research article

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  9. Colorectal cancer (CRC) is the second leading cancer killer in the US today and patients with metastatic disease have only a 14% 5-year survival. One of the most impactful recent advances in cancer therapy, im...

    Authors: Yuanyuan Shen, Yue Guan, Justin J. Hummel, Chi-Ren Shyu and Jonathan B. Mitchem

    Citation: BMC Cancer 2020 20:124

    Content type: Research article

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  10. Cancer subtyping has mainly relied on pathological and molecular means. Massively parallel sequencing-enabled subtyping requires genomic markers to be developed based on global features rather than individual ...

    Authors: Zhenggang Wu, Xi Long, Shui Ying Tsang, Taobo Hu, Jian-Feng Yang, Wai Kin Mat, Hongyang Wang and Hong Xue

    Citation: BMC Cancer 2020 20:84

    Content type: Research article

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  11. Breast cancer (BC) is known to be the most common malignancy in females whereas colorectal cancer (CRC) incidence also higher in both genders in Sri Lanka. TP53 is an important tumour suppressor gene and its soma...

    Authors: Vahinipriya Manoharan, Eric Hamilton Karunanayake, Kamani Hemamala Tennekoon, Sumadee De Silva, Ahamed Ilyas Ahamed Imthikab, Kanishka De Silva, Preethika Angunawela, Sameera Vishwakula and John Lunec

    Citation: BMC Cancer 2020 20:72

    Content type: Research article

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  12. Osteosarcoma is a primary malignant tumor originating from mesenchymal tissue, with a poor distant metastasis prognosis. The molecular mechanisms of osteosarcoma metastasis are extremely complicated.

    Authors: Mi Li, Xin Jin, Hao Li, Gang Wu, Shanshan Wang, Caihong Yang and Sisi Deng

    Citation: BMC Cancer 2020 20:65

    Content type: Research article

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  13. Glioblastoma (GBM) is a highly malignant brain neoplasm with poor survival. Despite its aggressive nature, metastatic spread of GBM is identified only rarely. While the molecular alterations associated with GB...

    Authors: Melissa Umphlett, Stephanie Shea, Jessica Tome-Garcia, Yizhou Zhang, Adilia Hormigo, Mary Fowkes, Nadejda M. Tsankova and Raymund L. Yong

    Citation: BMC Cancer 2020 20:47

    Content type: Case report

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  14. The occurrence of a mediastinal germ cell tumor (GCT) and hematological malignancy in the same patient is very rare. Due to its rarity, there have been only two reports of the concurrent cases undergoing detai...

    Authors: Keiichi Akizuki, Masaaki Sekine, Yasunori Kogure, Takuro Kameda, Kotaro Shide, Junji Koya, Ayako Kamiunten, Yoko Kubuki, Yuki Tahira, Tomonori Hidaka, Takumi Kiwaki, Hiroyuki Tanaka, Yuichiro Sato, Hiroaki Kataoka, Keisuke Kataoka and Kazuya Shimoda

    Citation: BMC Cancer 2020 20:5

    Content type: Research article

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  15. The principle of loss of iodine uptake and increased glucose metabolism according to dedifferentiation of thyroid cancer is clinically assessed by imaging. Though these biological properties are widely applied...

    Authors: Hoon Young Suh, Hongyoon Choi, Jin Chul Paeng, Gi Jeong Cheon, June-Key Chung and Keon Wook Kang

    Citation: BMC Cancer 2019 19:1260

    Content type: Research article

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  16. SPINK4 is known as a gastrointestinal peptide in the gastrointestinal tract and is abundantly expressed in human goblet cells. The clinical significance of SPINK4 in colorectal cancer (CRC) is largely unknown.

    Authors: Xiaojie Wang, Qian Yu, Waleed M. Ghareeb, Yiyi Zhang, Xingrong Lu, Ying Huang, Shenghui Huang, Yanwu Sun, Jiayi Lin, Jin Liu and Pan Chi

    Citation: BMC Cancer 2019 19:1258

    Content type: Research article

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  17. Breast cancer risk, development, and treatment are influenced by genetic variation in certain genes, namely those involved in cell proliferation, tumor suppression, and drug metabolism. In turn, the relevance ...

    Authors: Laith N. AL-Eitan, Doaa M. Rababa’h, Mansour A. Alghamdi and Rame H. Khasawneh

    Citation: BMC Cancer 2019 19:1257

    Content type: Research article

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  18. As biomarkers, DNA methylation is used to detect colorectal cancer (CRC) and make assessment of CRC prognosis. The published findings showed the association between the methylation of SFRP1, SFRP2, and WIF1, loca...

    Authors: Xinyan Liu, Jinming Fu, Haoran Bi, Anqi Ge, Tingting Xia, Yupeng Liu, Hongru Sun, Dapeng Li and Yashuang Zhao

    Citation: BMC Cancer 2019 19:1212

    Content type: Research article

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  19. The prognoses of head and neck squamous cell carcinoma (HNSCC) and esophageal squamous cell carcinoma (ESCC) are poor, especially when both tumors occur at the same time. We examined the clonal relatedness of ...

    Authors: Somkiat Sunpaweravong, Sacarin Bunbanjerdsuk, Tanjitti Pongrujikorn, Chaiwat Naktang, Patrapim Sunpaweravong, Anupong Nitiruangjaras, Tanadech Dechaphankul and Natini Jinawath

    Citation: BMC Cancer 2019 19:1174

    Content type: Research article

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  20. Genetic testing for BRCA1/2 genes is widely used as a strategy to reduce incidence and morbidity of hereditary breast and ovarian cancer (HBOC). The purpose of this study is to analyse the demographic and molecul...

    Authors: Ainara Ruiz de Sabando, Edurne Urrutia Lafuente, Fermín García-Amigot, Angel Alonso Sánchez, Lourdes Morales Garofalo, Sira Moreno, Eva Ardanaz and Maria A. Ramos-Arroyo

    Citation: BMC Cancer 2019 19:1145

    Content type: Research article

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    The Correction to this article has been published in BMC Cancer 2019 19:1227

  21. The significance of very early chimerism assessment before day + 28, which is considered the moment of engraftment, is still unclear. In this retrospective study, we evaluated the clinical impact of very early...

    Authors: Monika Lejman, Agnieszka Zaucha-Prażmo, Joanna Zawitkowska, Aleksandra Mroczkowska, Dominik Grabowski, Jerzy R. Kowalczyk and Katarzyna Drabko

    Citation: BMC Cancer 2019 19:1141

    Content type: Research article

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  22. Hepatocellular carcinoma (HCC) is the sixth-most common malignancy worldwide. Multiple previous studies have assessed the relationship between TM6SF2 gene polymorphism and the risk of developing HCC, with disc...

    Authors: Shan Tang, Jing Zhang, Ting-Ting Mei, Hai-Qing Guo, Xin-Huan Wei, Wen-Yan Zhang, Ya-Li Liu, Shan Liang, Zuo-Peng Fan, Li-Xia Ma, Wei Lin, Yi-Rong Liu, Li-Xia Qiu and Hai-Bin Yu

    Citation: BMC Cancer 2019 19:1128

    Content type: Research article

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  23. The rs2057482 polymorphism in the hypoxia inducible factor 1 subunit alpha (HIF1A) gene has been reported to be associated with a risk of several types of cancer, but this association has not yet been definitivel...

    Authors: Li-Fang Wu, Gui-Ping Xu, Qing Zhao, Li-Jing Zhou, Ding Wang and Wei-Xian Chen

    Citation: BMC Cancer 2019 19:1123

    Content type: Research article

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  24. High grade serous ovarian carcinoma (HGSOC) is the most common subtype of epithelial ovarian cancers (EOC) with poor prognosis. In most cases EOC is widely disseminated at the time of diagnosis. Despite the op...

    Authors: H. Sallinen, S. Janhonen, P. Pölönen, H. Niskanen, O. H. Liu, A. Kivelä, J. M. Hartikainen, M. Anttila, M. Heinäniemi, S. Ylä-Herttuala and M. U. Kaikkonen

    Citation: BMC Cancer 2019 19:1121

    Content type: Research article

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  25. Standardized Nucleic Acid Quantification for SEQuencing (SNAQ-SEQ) is a novel method that utilizes synthetic DNA internal standards spiked into each sample prior to next generation sequencing (NGS) library pre...

    Authors: Daniel J. Craig, Thomas Morrison, Sadik A. Khuder, Erin L. Crawford, Leihong Wu, Joshua Xu, Thomas M. Blomquist and James C. Willey

    Citation: BMC Cancer 2019 19:1081

    Content type: Technical advance

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  26. Nicotinamide adenine dinucleotide phosphate (NADPH) oxidase-derived reactive oxygen species (ROS) not only can promote cancer progression, but also they have recently emerged as mediators of the mucosal immune...

    Authors: Sang Yeon Cho, Sungha Kim, Mi-Ju Son, Gwanghun Kim, Parul Singh, Ha Neul Kim, Hei-Gwon Choi, Heon Jong Yoo, Young Bok Ko, Byung Seok Lee and Hyuk Soo Eun

    Citation: BMC Cancer 2019 19:1078

    Content type: Research article

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  27. BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesio...

    Authors: Bianca Costa Soares de Sá, Mariana Petaccia de Macedo, Giovana Tardin Torrezan, Juliana Casagrande Tavoloni Braga, Felipe Fidalgo, Luciana Facure Moredo, Rute Lellis, João Pereira Duprat and Dirce Maria Carraro

    Citation: BMC Cancer 2019 19:1077

    Content type: Case report

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  28. The single-nucleotide polymorphism SLC39A6 rs1050631 is strongly implicated in esophageal squamous cell carcinoma, leading us to question whether it may also play a role in gastric adenocarcima (GA).

    Authors: Jian Gao, Wenjun Ren, Chunhong Xiao, Lie Wang, Qiaojia Huang, Zaizhong Zhang, Yuan Dang, Pengcheng Weng, Hui Wang, Xuehong Fang, Minxian Zhuang, Liying Lin and Shaoquan Chen

    Citation: BMC Cancer 2019 19:1069

    Content type: Research article

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  29. Accumulating evidence indicates inherited risk in the aetiology of lung cancer, although smoking exposure is the major attributing factor. Family history is a simple substitute for inherited susceptibility. Pr...

    Authors: Yue I. Cheng, Yun Cui Gan, Dan Liu, Michael P. A. Davies, Wei Min Li and John K. Field

    Citation: BMC Cancer 2019 19:1068

    Content type: Research article

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  30. Long non-coding RNAs (lncRNAs) play a fundamental role in colorectal cancer (CRC) development, however, lncRNA expression profiles in CRC and its precancerous stages remain to be explored. We aimed to study wh...

    Authors: Alexandra Kalmár, Zsófia Brigitta Nagy, Orsolya Galamb, István Csabai, András Bodor, Barnabás Wichmann, Gábor Valcz, Barbara Kinga Barták, Zsolt Tulassay, Peter Igaz and Béla Molnár

    Citation: BMC Cancer 2019 19:1059

    Content type: Research article

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  31. Resistance to chemotherapy is one of the major hurdles in current cancer therapy. With the increasing occurrence of drug resistance, a paradigm shift in treatment strategy is required. Recently “medication vac...

    Authors: Divya Niveditha, Harshita Sharma, Syamantak Majumder, Sudeshna Mukherjee, Rajdeep Chowdhury and Shibasish Chowdhury

    Citation: BMC Cancer 2019 19:1045

    Content type: Research article

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  32. Understanding mechanisms underlying specific chemotherapeutic responses in subtypes of cancer may improve identification of treatment strategies most likely to benefit particular patients. For example, triple-...

    Authors: David P. Hill, Akeena Harper, Joan Malcolm, Monica S. McAndrews, Susan M. Mockus, Sara E. Patterson, Timothy Reynolds, Erich J. Baker, Carol J. Bult, Elissa J. Chesler and Judith A. Blake

    Citation: BMC Cancer 2019 19:1039

    Content type: Research article

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  33. The deregulated alternative splicing of key glycolytic enzyme, Pyruvate Kinase muscle isoenzyme (PKM) is implicated in metabolic adaptation of cancer cells. The splicing switch from normal PKM1 to cancer-speci...

    Authors: Sandhya Yadav, Somnath D. Bhagat, Amit Gupta, Atul Samaiya, Aasheesh Srivastava and Sanjeev Shukla

    Citation: BMC Cancer 2019 19:1031

    Content type: Research article

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  34. Somatic PTEN mutation occurs in a proportion of ovarian endometrioid carcinomas. However, these cancers have seldom been reported in diseases associated with germline PTEN variants, such as Cowden syndrome (CS).

    Authors: Hiroyuki Matsubayashi, Satomi Higashigawa, Yoshimi Kiyozumi, Yasue Horiuchi, Yasuyuki Hirashima, Nobuhiro Kado, Masato Abe, Takuma Ohishi, Sumiko Ohnami, Kenichi Urakami and Ken Yamaguchi

    Citation: BMC Cancer 2019 19:1014

    Content type: Case report

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  35. The expression of microRNAs (miRNAs) is a promising prognostic and diagnostic tool in hepatocellular carcinoma (HCC). Here we performed small RNA sequencing (sRNA-seq) of tissue, serum and serum exosomes to in...

    Authors: Robin Mjelle, Simona O. Dima, Nicolae Bacalbasa, Konika Chawla, Andrei Sorop, Dana Cucu, Vlad Herlea, Pål Sætrom and Irinel Popescu

    Citation: BMC Cancer 2019 19:1007

    Content type: Research article

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  36. Acute T-cell lymphoblastic leukaemia (T-ALL) is an aggressive disorder derived from immature thymocytes. The variability observed in clinical responses on this type of tumours to treatments, the high toxicity ...

    Authors: Pablo Fernández-Navarro, Pilar López-Nieva, Elena Piñeiro-Yañez, Gonzalo Carreño-Tarragona, Joaquín Martinez-López, Raúl Sánchez Pérez, Ángel Aroca, Fátima Al-Shahrour, María Ángeles Cobos-Fernández and José Fernández-Piqueras

    Citation: BMC Cancer 2019 19:1005

    Content type: Research article

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  37. To examine differences in the plasma levels of miRNA-21, − 214, −34a, and -200a in patients with persistent high-risk human papillomavirus (hr-HPV) infection or with cervical lesions of different grades.

    Authors: Hongyun Wang, Dandan Zhang, Qing Chen and Ying Hong

    Citation: BMC Cancer 2019 19:986

    Content type: Research article

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  38. Multiple myeloma (MM) cells gain protection against drugs through interaction with bone marrow stromal cells (BMSCs). This form of resistance largely accounts for resistance to therapy in MM patients which war...

    Authors: Jahangir Abdi, Nasrin Rastgoo, Yan Chen, Guo An Chen and Hong Chang

    Citation: BMC Cancer 2019 19:975

    Content type: Research article

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  39. CpG Island Methylator Phenotype (CIMP) is an epigenetic phenotype in CRC characterized by hypermethylation of CpG islands in promoter regions of tumor suppressor genes, leading to their transcriptional silenci...

    Authors: Shailesh Mahesh Advani, Pragati Shailesh Advani, Derek W. Brown, Stacia M. DeSantis, Krittiya Korphaisarn, Helena M. VonVille, Jan Bressler, David S. Lopez, Jennifer S. Davis, Carrie R. Daniel, Amir Mehrvarz Sarshekeh, Dejana Braithwaite, Michael D. Swartz and Scott Kopetz

    Citation: BMC Cancer 2019 19:964

    Content type: Research article

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  41. We aimed to investigate the correlation of Circ-SMARCA5 with disease severity and prognosis in multiple myeloma (MM), and its underlying mechanisms in regulating cell proliferation and apoptosis.

    Authors: Haiyan Liu, Yan Wu, Shunye Wang, Jie Jiang, Chenlu Zhang, Yijing Jiang, Xingfeng Wang, Lewen Hong and Hongming Huang

    Citation: BMC Cancer 2019 19:937

    Content type: Research article

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  42. Although extensive use of tyrosine kinase inhibitors has resulted in high and durable response rate and prolonged survival time in patients with BCR-ABL1 positive chronic myeloid leukemia (CML) and acute leuke...

    Authors: Zhanglin Zhang, Zhiwei Chen, Mei Jiang, Shuyuan Liu, Yang Guo, Lagen Wan and Fei Li

    Citation: BMC Cancer 2019 19:935

    Content type: Research article

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  43. Single nucleotide polymorphisms (SNPs) in genes encoding mitotic kinases could influence development and progression of gastric cancer (GC).

    Authors: Aner Mesic, Marija Rogar, Petra Hudler, Nurija Bilalovic, Izet Eminovic and Radovan Komel

    Citation: BMC Cancer 2019 19:919

    Content type: Research article

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  45. Cancer is a genetic and epigenetic disease that involves inactivation of tumor suppressor genes and activation of proto-oncogenes. All-trans retinoic acid (ATRA) is an isomer of retinoic acid involved in the o...

    Authors: Lara Lima, Thaísa Cristina Tavares de Melo, Diego Marques, Jéssica Nayara Góes de Araújo, Isabela Samária Fernandes Leite, Camila Xavier Alves, Julieta Genre and Vivian Nogueira Silbiger

    Citation: BMC Cancer 2019 19:866

    Content type: Research article

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  46. Atypical teratoid/rhabdoid tumors (AT/RTs) are highly malignant brain tumors with inactivation of the SMARCB1 gene, which play a critical role in genomic transcriptional control. In this study, we analyzed the ge...

    Authors: Ji Hoon Phi, Choong-Hyun Sun, Se-Hoon Lee, Seungmook Lee, Inho Park, Seung Ah Choi, Sung-Hye Park, Ji Yeoun Lee, Kyu-Chang Wang, Seung-Ki Kim, Hongseok Yun and Chul-Kee Park

    Citation: BMC Cancer 2019 19:848

    Content type: Research article

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  47. Blood-based methods using cell-free DNA (cfDNA) are under development as an alternative to existing screening tests. However, early-stage detection of cancer using tumor-derived cfDNA has proven challenging be...

    Authors: Nathan Wan, David Weinberg, Tzu-Yu Liu, Katherine Niehaus, Eric A. Ariazi, Daniel Delubac, Ajay Kannan, Brandon White, Mitch Bailey, Marvin Bertin, Nathan Boley, Derek Bowen, James Cregg, Adam M. Drake, Riley Ennis, Signe Fransen…

    Citation: BMC Cancer 2019 19:832

    Content type: Research article

    Published on:

  48. SMARCB1-deficient sinonasal carcinoma (SDSC) is an aggressive subtype of head and neck cancers that has a poor prognosis despite multimodal therapy. We present a unique case with next generation sequencing dat...

    Authors: Horacio Gomez-Acevedo, John D. Patterson, Sehrish Sardar, Murat Gokden, Bhaskar C. Das, David W. Ussery and Analiz Rodriguez

    Citation: BMC Cancer 2019 19:827

    Content type: Case report

    Published on:

  49. Progression of breast cancer involves both genetic and epigenetic factors. Parkin gene has been identified as a tumor suppressor gene in the pathogenesis of various cancers. Nevertheless, the putative role of Par...

    Authors: Khushnuma Wahabi, Ahmad Perwez, Shabeena Kamarudheen, Zafar Iqbal Bhat, Anurag Mehta and M. Moshahid A. Rizvi

    Citation: BMC Cancer 2019 19:820

    Content type: Research article

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  50. The aim of this study was to investigate the potential of cell-free DNA (cfDNA) as a disease biomarker in oesophageal squamous cell carcinoma (ESCC) that can be used for treatment response evaluation and early...

    Authors: Pei Meng, Jiacong Wei, Yiqun Geng, Shaobin Chen, Miente Martijn Terpstra, Qiongyi Huang, Qian Zhang, Zuoqing Su, Wanchun Yu, Min Su, Klaas Kok, Anke van den Berg and Jiang Gu

    Citation: BMC Cancer 2019 19:818

    Content type: Research article

    Published on:

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