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.

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  1. Research article

    Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree

    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...

    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

    BMC Cancer 2017 17:146

    Published on: 21 February 2017

  2. Research article

    Clinical performance evaluation of a sensitive, rapid low-throughput test for KRAS mutation analysis using formalin-fixed, paraffin-embedded tissue samples

    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 ...

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

    BMC Cancer 2017 17:139

    Published on: 16 February 2017

  3. Research article

    Viral E6 is overexpressed via high viral load in invasive cervical cancer with episomal HPV16

    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...

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

    BMC Cancer 2017 17:136

    Published on: 15 February 2017

  4. Case report

    First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation

    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...

    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

    BMC Cancer 2017 17:127

    Published on: 13 February 2017

  5. Research article

    microRNA-29c inhibits cell proliferation by targeting NASP in human gastric cancer

    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...

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

    BMC Cancer 2017 17:109

    Published on: 7 February 2017

  6. Research article

    MDM2 promoter polymorphism del1518 (rs3730485) and its impact on endometrial and ovarian cancer risk

    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...

    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

    BMC Cancer 2017 17:97

    Published on: 3 February 2017

  7. Case report

    Stepwise addition of genetic changes correlated with histological change from “well-differentiated” to “sarcomatoid” phenotypes: a 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...

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

    BMC Cancer 2017 17:65

    Published on: 19 January 2017

  8. Research article

    Genetic polymorphisms of SCN9A are associated with oxaliplatin-induced neuropathy

    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% ...

    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

    BMC Cancer 2017 17:63

    Published on: 19 January 2017

  9. Research article

    Genomic pathways modulated by Twist in breast cancer

    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...

    Farhad Vesuna, Yehudit Bergman and Venu Raman

    BMC Cancer 2017 17:52

    Published on: 13 January 2017

  10. Case report

    Use of liquid biopsies to monitor disease progression in a sarcoma patient: a 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 ...

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

    BMC Cancer 2017 17:29

    Published on: 6 January 2017

  11. Case report

    Case report: whole exome sequencing of primary cardiac angiosarcoma highlights potential for targeted therapies

    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...

    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

    BMC Cancer 2017 17:17

    Published on: 5 January 2017

  12. Research article

    Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil

    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 ...

    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

    BMC Cancer 2016 16:934

    Published on: 3 December 2016

  13. Research article

    A systematic comparison of copy number alterations in four types of female cancer

    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,...

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

    BMC Cancer 2016 16:913

    Published on: 22 November 2016

  14. Research article

    Global DNA methylation profiling uncovers distinct methylation patterns of protocadherin alpha4 in metastatic and non-metastatic rhabdomyosarcoma

    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...

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

    BMC Cancer 2016 16:886

    Published on: 14 November 2016

  15. Research article

    Identification of microRNA profile specific to cancer stem-like cells directly isolated from human larynx cancer specimens

    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...

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

    BMC Cancer 2016 16:853

    Published on: 5 November 2016

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