Skip to content


Genetics, genomics and epigenetics

Section edited by Ian Cree

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.

Page 5 of 14

  1. Content type: Research article

    Knowledge of the genotype of melanoma is important to guide patient management. Identification of mutations in BRAF and c-KIT lead directly to targeted treatment, but it is also helpful to know if there are dr...

    Authors: Anne Reiman, Hugh Kikuchi, Daniela Scocchia, Peter Smith, Yee Wah Tsang, David Snead and Ian A Cree

    Citation: BMC Cancer 2017 17:150

    Published on:

  2. Content type: Research article

    Genetic testing for BRCA1 and BRCA2 has led to the accurate identification of individuals at higher risk of cancer and the development of new therapies. Approximately 10-20% of the genetic testing for BRCA1 and B...

    Authors: Kah Nyin Lai, Weang Kee Ho, In Nee Kang, Peter Choon Eng Kang, Sze Yee Phuah, Shivaani Mariapun, Cheng-Har Yip, Nur Aishah Mohd Taib and Soo-Hwang Teo

    Citation: BMC Cancer 2017 17:149

    Published on:

  3. Content type: Research article

    DICER1 syndrome is a pediatric cancer predisposition condition causing a variety of tumor types in children and young adults. In this report we studied a family with two relatives presenting a variety of neopl...

    Authors: Lorena Fernández-Martínez, José Antonio Villegas, Íñigo Santamaría, Ana S. Pitiot, Marta G. Alvarado, Soledad Fernández, Héctor Torres, Ángeles Paredes, Pilar Blay and Milagros Balbín

    Citation: BMC Cancer 2017 17:146

    Published on:

  4. Content type: Research article

    Testing for KRAS mutations in metastatic colorectal cancer (mCRC) on formalin-fixed, paraffin embedded (FFPE) tumor tissue has become standard of care. Different molecular methods exist to determine hotspot KRAS ...

    Authors: Christine Weyn, Sofie Van Raemdonck, Robina Dendooven, Vincent Maes, Karen Zwaenepoel, Suzan Lambin and Patrick Pauwels

    Citation: BMC Cancer 2017 17:139

    Published on:

  5. Content type: Research article

    The integration of HR-HPV genome into host DNA is regarded as a key step for the development of cervical cancer. However, HR-HPV genome indeed exists as episome except for integrant. It may be alternative mech...

    Authors: Die Hong, Jia Liu, Ying Hu, Xiaonan Lu, Baohua Li, Yang Li, Dongxiao Hu, Weiguo Lu, Xing Xie and Xiaodong Cheng

    Citation: BMC Cancer 2017 17:136

    Published on:

  6. Content type: Case report

    Neurofibromatosis type 2 (NF2) is a rare autosomal dominant nervous system tumor predisposition disorder caused by constitutive inactivation of one of the two copies of NF2. Meningiomas affect about one half of N...

    Authors: Ramita Dewan, Alexander Pemov, Amalia S. Dutra, Evgenia D. Pak, Nancy A. Edwards, Abhik Ray-Chaudhury, Nancy F. Hansen, Settara C. Chandrasekharappa, James C. Mullikin, Ashok R. Asthagiri, John D. Heiss, Douglas R. Stewart and Anand V. Germanwala

    Citation: BMC Cancer 2017 17:127

    Published on:

  7. Content type: Research article

    Gastric cancer is one of the most common malignancies worldwide. Recent studies have shown that microRNAs play crucial roles in regulating cellular proliferation process in gastric cancer. MicroRNA-29c (miR-29...

    Authors: Beiqin Yu, Xuehua Chen, Jianfang Li, Qinlong Gu, Zhenggang Zhu, Chen Li, Liping Su and Bingya Liu

    Citation: BMC Cancer 2017 17:109

    Published on:

  8. Content type: Research article

    The del1518 (rs3730485) polymorphism is an in/del variant in the MDM2 promoter P1. The variant is in complete linkage disequilibrium with MDM2 SNP309 (rs2279744) and has previously been found associated with an i...

    Authors: Liv B. Gansmo, Merete Bjørnslett, Mari Kyllesø Halle, Helga B. Salvesen, Pål Romundstad, Kristian Hveem, Lars Vatten, Anne Dørum, Per E. Lønning and Stian Knappskog

    Citation: BMC Cancer 2017 17:97

    Published on:

  9. Content type: Research article

    The insulin-like growth factor (IGF) system plays an important role in the development and progression of cancer. However, little is known about the expression of the IGF system components and their clinicopat...

    Authors: Xinwei Feng, Jianhua Lin, Shan Xing, Wanli Liu and Ge Zhang

    Citation: BMC Cancer 2017 17:90

    Published on:

  10. Content type: Case report

    Sarcomatoid cancer is defined by the World Health Organization as a category of non-small cell lung cancers with sarcoma or sarcoma-like differentiation. They are characterized by poor prognosis and resistance...

    Authors: Taichiro Goto, Yosuke Hirotsu, Hitoshi Mochizuki, Takahiro Nakagomi, Toshio Oyama, Kenji Amemiya and Masao Omata

    Citation: BMC Cancer 2017 17:65

    Published on:

  11. Content type: Research article

    Oxaliplatin is a chemotherapy agent active against digestive tumors. Peripheral neuropathy is one of the most important dose-limiting toxicity of this drug. It occurs in around 60–80% of the patients, and 15% ...

    Authors: María Sereno, Gerardo Gutiérrez-Gutiérrez, Juan Moreno Rubio, María Apellániz-Ruiz, Lara Sánchez-Barroso, Enrique Casado, Sandra Falagan, Miriam López-Gómez, María Merino, César Gómez-Raposo, Nuria Rodriguez-Salas, Francisco Zambrana Tébar and Cristina Rodríguez-Antona

    Citation: BMC Cancer 2017 17:63

    Published on:

  12. Content type: Research article

    The basic helix-loop-helix transcription factor TWIST1 (Twist) is involved in embryonic cell lineage determination and mesodermal differentiation. There is evidence to indicate that Twist expression plays a ro...

    Authors: Farhad Vesuna, Yehudit Bergman and Venu Raman

    Citation: BMC Cancer 2017 17:52

    Published on:

  13. Content type: Case report

    Many patients experience local recurrence or metastases after receiving potentially curative treatment, and early detection of these events is important for disease control. Recent technological advances make ...

    Authors: Heidi M. Namløs, Olga Zaikova, Bodil Bjerkehagen, Daniel Vodák, Eivind Hovig, Ola Myklebost, Kjetil Boye and Leonardo A. Meza-Zepeda

    Citation: BMC Cancer 2017 17:29

    Published on:

  14. Content type: Research article

    Human chromosomes are capped and stabilized by telomeres. Telomere length regulates a ‘cellular mitotic clock’ that defines the number of cell divisions and hence, cellular life span. This study aimed to synth...

    Authors: Cho Naing, Kyan Aung, Pei Kuan Lai and Joon Wah Mak

    Citation: BMC Cancer 2017 17:24

    Published on:

  15. Content type: Case report

    Primary cardiac angiosarcomas are rare, but they are the most aggressive type of primary cardiac neoplasms. When patients do present, it is with advanced pulmonary and/or cardiac symptoms. Therefore, many time...

    Authors: Leah Zhrebker, Irene Cherni, Lara M. Gross, Margaret M. Hinshelwood, Merrick Reese, Jessica Aldrich, Joseph M. Guileyardo, William C. Roberts, David Craig, Daniel D. Von Hoff, Robert G. Mennel and John D. Carpten

    Citation: BMC Cancer 2017 17:17

    Published on:

  16. Content type: Research article

    Approximately 8–15% epithelial ovarian cancer patients are BRCA1 or BRCA2 germline mutation carriers. Brazilian inhabitants may have peculiar genetic characteristics associated with ethnic diversity, and studies ...

    Authors: Simone Maistro, Natalia Teixeira, Giselly Encinas, Maria Lucia Hirata Katayama, Vivian Dionisio Tavares Niewiadonski, Larissa Garcia Cabral, Roberto Marques Ribeiro, Nelson Gaburo Junior, Ana Carolina Ribeiro Chaves de Gouvêa, Dirce Maria Carraro, Ester Cerdeira Sabino, Maria del Pilar Estevez Diz, Roger Chammas, Geertruida Hendrika de Bock and Maria Aparecida Azevedo Koike Folgueira

    Citation: BMC Cancer 2016 16:934

    Published on:

  17. Content type: Research article

    Detection and localization of genomic alterations and breakpoints are crucial in cancer research. The purpose of this study was to investigate, in a methodological and biological perspective, different female,...

    Authors: Fatemeh Kaveh, Lars O. Baumbusch, Daniel Nebdal, Anne-Lise Børresen-Dale, Ole Christian Lingjærde, Hege Edvardsen, Vessela N. Kristensen and Hiroko K. Solvang

    Citation: BMC Cancer 2016 16:913

    Published on:

    The Correction to this article has been published in BMC Cancer 2018 18:80

  18. Content type: Research article

    Rhabdomyosarcoma (RMS), which can be classified as embryonal RMS (ERMS) and alveolar RMS (ARMS), represents the most frequent soft tissue sarcoma in the pediatric population; the latter shows greater aggressiv...

    Authors: L. Tombolan, E. Poli, P. Martini, A. Zin, C. Millino, B. Pacchioni, B. Celegato, G. Bisogno, C. Romualdi, A. Rosolen and G. Lanfranchi

    Citation: BMC Cancer 2016 16:886

    Published on:

  19. Content type: Research article

    Emerging evidences proposed that microRNAs are associated with regulation of distinct physio-pathological processes including development of normal stem cells and carcinogenesis. In this study we aimed to inve...

    Authors: Omer Faruk Karatas, Ilknur Suer, Betul Yuceturk, Mehmet Yilmaz, Buge Oz, Gulgun Guven, Harun Cansiz, Chad J. Creighton, Michael Ittmann and Mustafa Ozen

    Citation: BMC Cancer 2016 16:853

    Published on:

  20. Content type: Research article

    There are several indications that the composition of the tumor stroma can contribute to the malignancy of a tumor. Here we utilized expression data sets to identify metagenes that may serve as surrogate marke...

    Authors: Sofia Winslow, Kajsa Ericson Lindquist, Anders Edsjö and Christer Larsson

    Citation: BMC Cancer 2016 16:841

    Published on:

  21. Content type: Research article

    Human epidermal growth factor receptor (HER)-2 is a driver gene in non-small cell lung cancer (NSCLC). The present study evaluated the mutation rate of HER-2 within the wild-type epidermal growth factor receptor ...

    Authors: Xuefei Li, Chao Zhao, Chunxia Su, Shengxiang Ren, Xiaoxia Chen and Caicun Zhou

    Citation: BMC Cancer 2016 16:828

    Published on:

  22. Content type: Research article

    Triple-negative breast cancer (TNBC) with a BRCA1-like molecular signature has been demonstrated to remarkably respond to platinum-based chemotherapy and might be suited for a future treatment with poly(ADP-ri...

    Authors: Eva Gross, Harm van Tinteren, Zhou Li, Sandra Raab, Christina Meul, Stefanie Avril, Nadja Laddach, Michaela Aubele, Corinna Propping, Apostolos Gkazepis, Manfred Schmitt, Alfons Meindl, Petra M. Nederlof, Marion Kiechle and Esther H. Lips

    Citation: BMC Cancer 2016 16:811

    Published on:

  23. Content type: Research article

    Genes in inflammatory pathways play a pivotal role in the development of colorectal cancer. We conducted a two-stage case-control study and aimed at screening the colorectal cancer-associated genetic variation...

    Authors: Chunxiao Xu, Dan Zhou, Feixia Pan, Yi Liu, Dandan zhang, Aifen Lin, Xiaoping Miao, Yaqin Ni, Duo Lv, Shuai Zhang, Xiaobo Li, Yimin Zhu and Maode Lai

    Citation: BMC Cancer 2016 16:807

    Published on:

  24. Content type: Research article

    This study addresses involvement of major 5-fluorouracil (5-FU) pathway genes in the prognosis of colorectal carcinoma patients.

    Authors: T. Kunicka, P. Prochazka, I. Krus, P. Bendova, M. Protivova, S. Susova, V. Hlavac, V. Liska, P. Novak, M. Schneiderova, P. Pitule, J. Bruha, O. Vycital, P. Vodicka and P. Soucek

    Citation: BMC Cancer 2016 16:795

    Published on:

  25. Content type: Research article

    The extracellular matrix (ECM), one of the key components of tumor microenvironment, has a tremendous impact on cancer development and highly influences tumor cell features. ECM affects vital cellular function...

    Authors: Vaidotas Stankevicius, Gintautas Vasauskas, Danute Bulotiene, Stase Butkyte, Sonata Jarmalaite, Ricardas Rotomskis and Kestutis Suziedelis

    Citation: BMC Cancer 2016 16:789

    Published on:

  26. Content type: Research article

    Single nucleotide polymorphisms (SNPs) involved in the estrogen pathway and SNPs in the estrogen receptor alpha gene (ESR1 6q25) have been linked to breast cancer development, and mammographic density is an estab...

    Authors: F. N. Fjeldheim, H. Frydenberg, V. G. Flote, A. McTiernan, A-S Furberg, P. T. Ellison, E. S. Barrett, T. Wilsgaard, G. Jasienska, G. Ursin, E. A. Wist and I. Thune

    Citation: BMC Cancer 2016 16:776

    Published on:

  27. Content type: Research article

    Non-muscle-invasive bladder cancer (NMIBC) is a high incidence form of bladder cancer (BCa), where genetic and epigenetic alterations occur frequently. We assessed the performance of associating a FGFR3 mutation ...

    Authors: Jean-Pierre Roperch, Bernard Grandchamp, François Desgrandchamps, Pierre Mongiat-Artus, Vincent Ravery, Idir Ouzaid, Morgan Roupret, Véronique Phe, Calin Ciofu, Florence Tubach, Olivier Cussenot and Roberto Incitti

    Citation: BMC Cancer 2016 16:704

    Published on:

  28. Content type: Research article

    In breast cancer, the epithelial to mesenchyme transition (EMT) is associated to tumour dissemination, drug resistance and high relapse risks. It is partly controlled by epigenetic modifications such as histon...

    Authors: Jean-Marc Gregoire, Laurence Fleury, Clara Salazar-Cardozo, Frédéric Alby, Véronique Masson, Paola Barbara Arimondo and Frédéric Ausseil

    Citation: BMC Cancer 2016 16:700

    Published on:

  29. Content type: Research article

    Oral tongue squamous cell carcinoma (OTSCC) is one of the most aggressive forms of head and neck/oral cancer (HNOC), and is a complex disease with extensive genetic and epigenetic defects, including microRNA d...

    Authors: Qianting He, Zujian Chen, Qian Dong, Leitao Zhang, Dan Chen, Aditi Patel, Ajay Koya, Xianghong Luan, Robert J. Cabay, Yang Dai, Anxun Wang and Xiaofeng Zhou

    Citation: BMC Cancer 2016 16:685

    Published on:

  30. Content type: Research article

    Vitamin D receptor (VDR) gene polymorphisms affect the risk of prostate cancer. However, studies investigating the relationship between VDR gene polymorphisms (Cdx2 and ApaI) and prostate cancer risk are equivoca...

    Authors: Kewei Wang, Guosheng Wu, Jinping Li and Wentao Song

    Citation: BMC Cancer 2016 16:674

    Published on:

  31. Content type: Research article

    Nasopharyngeal carcinoma (NPC) is a type of head-neck cancer with a distinguishable geographic and racial distribution worldwide. Increasing evidence supports that the accumulation of additional genetic and ep...

    Authors: Pei-Yu Huang, Ting-Ting Zeng, Xiaojiao Ban, Meng-Qing Li, Bao-Zhu Zhang, Ying-Hui Zhu, Wen-Feng Hua, Hai-Qiang Mai, Li Zhang, Xin-Yuan Guan and Yan Li

    Citation: BMC Cancer 2016 16:669

    Published on:

  32. Content type: Research article

    Traditional prognostic indicators of breast cancer, i.e. lymph node diffusion, tumor size, grading and estrogen receptor expression, are inadequate predictors of metastatic relapse. Thus, additional prognostic...

    Authors: Emanuela Guerra, Alessia Cimadamore, Pasquale Simeone, Giovanna Vacca, Rossano Lattanzio, Gerardo Botti, Valentina Gatta, Marco D’Aurora, Barbara Simionati, Mauro Piantelli and Saverio Alberti

    Citation: BMC Cancer 2016 16:649

    Published on:

  33. Content type: Research article

    Cancer is increasingly understood to arise in the context of dynamically evolving genomes with continuously generated variants subject to selective pressures. Diverse mutations have been identified in papillar...

    Authors: Jill C. Rubinstein, Taylor C. Brown, Emily R. Christison-Lagay, Yawei Zhang, John W. Kunstman, C. Christofer Juhlin, Carol Nelson-Williams, Gerald Goh, Courtney E. Quinn, Glenda G. Callender, Robert Udelsman, Richard P. Lifton, Reju Korah and Tobias Carling

    Citation: BMC Cancer 2016 16:646

    Published on:

  34. Content type: Research article

    Pancreatic cancer is poorly characterized at genetic and non-genetic levels. The current study evaluates in a large cohort of patients the prognostic relevance of molecular subtypes and key transcription facto...

    Authors: Rekin’s Janky, Maria Mercedes Binda, Joke Allemeersch, Anke Van den broeck, Olivier Govaere, Johannes V. Swinnen, Tania Roskams, Stein Aerts and Baki Topal

    Citation: BMC Cancer 2016 16:632

    Published on:

  35. Content type: Case report

    Melanotic neuroectodermal tumor of infancy (MNTI) is exceptionally rare and occurs predominantly in the head and neck (92.8 % cases). The patient reported here is only the eighth case of MNTI presenting in an ...

    Authors: David J. Barnes, Edward Hookway, Nick Athanasou, Takeshi Kashima, Udo Oppermann, Simon Hughes, Daniel Swan, Dietrich Lueerssen, John Anson and A. Bassim Hassan

    Citation: BMC Cancer 2016 16:629

    Published on:

  36. Content type: Research article

    The single hotspot mutation AKT1 [G49A:E17K] has been described in several cancers, with the highest incidence observed in breast cancer. However, its precise role in disease etiology remains unknown.

    Authors: Marion Rudolph, Tobias Anzeneder, Anke Schulz, Georg Beckmann, Annette T. Byrne, Michael Jeffers, Carol Pena, Oliver Politz, Karl Köchert, Richardus Vonk and Joachim Reischl

    Citation: BMC Cancer 2016 16:622

    Published on:

  37. Content type: Research article

    The minor allele of two caspase 8 polymorphisms, namely CASP8 -652 6N InsDel (rs3834129) and CASP8 Asp302His (rs1045485), were repeatedly associated with reduced breast cancer susceptibility. Contrarily, the pres...

    Authors: J. D. Kuhlmann, A. Bankfalvi, K. W. Schmid, R. Callies, R. Kimmig, P. Wimberger, W. Siffert and H. S. Bachmann

    Citation: BMC Cancer 2016 16:618

    Published on:

  38. Content type: Research article

    The screening of ROS proto-oncogene 1, receptor tyrosine kinase(ROS1) fusion rearrangement might be potentially beneficial for an effective therapy against non-small cell lung cancer (NSCLC). However, the thre...

    Authors: Jieyu Wu, Yunen Lin, Xinming He, Haihong Yang, Ping He, Xinge Fu, Guangqiu Li and Xia Gu

    Citation: BMC Cancer 2016 16:599

    Published on:

  39. Content type: Research article

    KRAS mutation testing is mandatory in the management of metastatic colorectal cancer prior to treatment with anti-EGFR antibodies as patients whose tumors express mutant KRAS do not benefit from these agents. Alt...

    Authors: Elisabeth Mack, Kathleen Stabla, Jorge Riera-Knorrenschild, Roland Moll, Andreas Neubauer and Cornelia Brendel

    Citation: BMC Cancer 2016 16:585

    Published on:

  40. Content type: Research article

    In South and Southeast Asian, the majority of buccal squamous cell carcinoma (BSCC) can arise from oral submucous fibrosis (OSF). BSCCs develop in OSF that are often not completely resected, causing local rela...

    Authors: Wen Liu, Lijuan Zeng, Ning Li, Fei Wang, Canhua Jiang, Feng Guo, Xinqun Chen, Tong Su, Chunjiao Xu, Shanshan Zhang and Changyun Fang

    Citation: BMC Cancer 2016 16:584

    Published on:

  41. Content type: Research article

    Long noncoding RNAs (lncRNAs) play crucial roles in tumorigenesis, and lncRNA taurine-upregulated gene 1 (TUG1) has been proven to be associated with several human cancers. However, the mechanisms of TUG1-involve...

    Authors: Pei-Chin Lin, Hsien-Da Huang, Chun-Chi Chang, Ya-Sian Chang, Ju-Chen Yen, Chien-Chih Lee, Wen-Hsin Chang, Ta-Chih Liu and Jan-Gowth Chang

    Citation: BMC Cancer 2016 16:583

    Published on:

  42. Content type: Technical advance

    Imatinib-resistant chronic myeloid leukemia (CML) patients receiving second-line tyrosine kinase inhibitor (TKI) therapy with dasatinib or nilotinib have a higher risk of disease relapse and progression and no...

    Authors: Simona Soverini, Caterina De Benedittis, Fausto Castagnetti, Gabriele Gugliotta, Manuela Mancini, Luana Bavaro, Katerina Machova Polakova, Jana Linhartova, Alessandra Iurlo, Domenico Russo, Fabrizio Pane, Giuseppe Saglio, Gianantonio Rosti, Michele Cavo, Michele Baccarani and Giovanni Martinelli

    Citation: BMC Cancer 2016 16:572

    Published on:

  43. Content type: Research article

    SLC52A3 was recently identified as a susceptibility gene for esophageal squamous cell carcinoma (ESCC). However, associations between the single nucleotide polymorphisms (SNPs) rs13042...

    Authors: Hua-Zhen Tan, Zhi-Yong Wu, Jian-Yi Wu, Lin Long, Ji-Wei Jiao, Yu-Hui Peng, Yi-Wei Xu, Shan-Shan Li, Wei Wang, Jian-Jun Zhang, En-Min Li and Li-Yan Xu

    Citation: BMC Cancer 2016 16:560

    Published on:

  44. Content type: Research article

    Long-term prognostic significance of loss of heterozygosity on chromosome 9p21 for localized renal cell carcinoma following surgery remains unreported. The study assessed the frequency of deletions of differen...

    Authors: Ismail El-Mokadem, Alison Lim, Thomas Kidd, Katherine Garret, Norman Pratt, David Batty, Stewart Fleming and Ghulam Nabi

    Citation: BMC Cancer 2016 16:546

    Published on:

  45. Content type: Research article

    Despite the clinical significance of liver metastases, the difference between molecular and cellular changes in primary colorectal cancers (CRC) and matched liver metastases is poorly understood.

    Authors: Ja-Rang Lee, Chae Hwa Kwon, Yuri Choi, Hye Ji Park, Hyun Sung Kim, Hong-Jae Jo, Nahmgun Oh and Do Youn Park

    Citation: BMC Cancer 2016 16:539

    Published on:

  46. Content type: Research article

    Colorectal cancer (CRC) is closely linked to Wnt signalling, with 94 % of cases exhibiting a Wnt related mutation. ROR2 is a receptor tyrosine kinase that is thought to repress β-catenin dependent Wnt signalli...

    Authors: Sean S. Q. Ma, Sameer Srivastava, Estelle Llamosas, Nicholas J. Hawkins, Luke B. Hesson, Robyn L. Ward and Caroline E. Ford

    Citation: BMC Cancer 2016 16:508

    Published on:

  47. Content type: Research article

    We aimed to evaluate the correlation between p16ink4a-overexpression and high risk (hr)HPV-DNA in vulvar squamous cell carcinoma (vSCC) tumors as well as the impact of both biomarkers on the prognosis of vSCC pat...

    Authors: Jacek J. Sznurkowski, Anton Żawrocki and Wojciech Biernat

    Citation: BMC Cancer 2016 16:465

    Published on: