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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. 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

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  2. 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

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  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

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  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

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  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

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  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

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  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

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  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

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  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

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  10. 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

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  11. 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

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  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

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  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

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  14. 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

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  15. 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

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  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

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  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

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  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

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