BMC Cancer | Genetics, genomics and epigenetics section

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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.	Research article ADAR2 editing activity in newly diagnosed versus relapsed pediatric high-grade astrocytomas Sara Tomaselli, Federica Galeano, Luca Massimi, Concezio Di Rocco, Libero Lauriola, Angela Mastronuzzi, Franco Locatelli, Angela Gallo BMC Cancer 2013, 13:255 (22 May 2013) Abstract \| Provisional PDF
	2.	Research article Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain) Pilar Blay, Iñigo Santamaría, Ana S Pitiot, María Luque, Marta G Alvarado, Ana Lastra, Yolanda Fernández, Ángeles Paredes, José MP Freije, Milagros Balbín BMC Cancer 2013, 13:243 (17 May 2013) Abstract \| Provisional PDF \| PubMed
	3.	Research article Genetic association between selected cytokine genes and glioblastoma in the Han Chinese population Tianbo Jin, Xiaolan Li, Jiayi Zhang, Hong Wang, Tingting Geng, Gang Li, Guodong Gao, Chao Chen BMC Cancer 2013, 13:236 (12 May 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	4.	Research article Genetic polymorphisms of DNA double-strand break repair pathway genes and glioma susceptibility Peng Zhao, Peng Zou, Lin Zhao, Wei Yan, Chunsheng Kang, Tao Jiang, Yongping You BMC Cancer 2013, 13:234 (10 May 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	5.	Research article Age dependence of tumor genetics in unfavorable neuroblastoma: arrayCGH profiles of 34 consecutive cases, using a Swedish 25-year neuroblastoma cohort for validation Cihan Cetinkaya, Tommy Martinsson, Johanna Sandgren, Catarina Träger, Per Kogner, Jan Dumanski, Teresita Díaz de Ståhl, Fredrik Hedborg BMC Cancer 2013, 13:231 (9 May 2013) Abstract \| Provisional PDF \| PubMed
	6.	Research article Genetic variation in TLR or NFkappaB pathways and the risk of breast cancer: a case-control study Alexa J Resler, Kathleen E Malone, Lisa G Johnson, Mari Malkki, Effie W Petersdorf, Barbara McKnight, Margaret M Madeleine BMC Cancer 2013, 13:219 (1 May 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	7.	Technical advance Quantitative threefold allele-specific PCR (QuanTAS-PCR) for highly sensitive JAK2 V617F mutant allele detection Giada V Zapparoli, Robert N Jorissen, Chelsee A Hewitt, Michelle McBean, David A Westerman, Alexander Dobrovic BMC Cancer 2013, 13:206 (24 April 2013) Abstract \| Full text \| PDF \| PubMed
	8.	Research article Impact of KRAS, BRAF and PI3KCA mutations in rectal carcinomas treated with neoadjuvant radiochemotherapy and surgery Olfa Derbel, Qing Wang, Françoise Desseigne, Michel Rivoire, Pierre Meeus, Patrice Peyrat, Mattia Stella, Isabelle Martel-Lafay, Anne-Isabelle Lemaistre, Christelle de La Fouchardière BMC Cancer 2013, 13:200 (23 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	9.	Research article Peretinoin, an acyclic retinoid, improves the hepatic gene signature of chronic hepatitis C following curative therapy of hepatocellular carcinoma Masao Honda, Taro Yamashita, Tatsuya Yamashita, Kuniaki Arai, Yoshio Sakai, Akito Sakai, Mikiko Nakamura, Eishiro Mizukoshi, Shuichi Kaneko BMC Cancer 2013, 13:191 (15 April 2013) Abstract \| Full text \| PDF \| PubMed
	10.	Case report TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient Juliana Giacomazzi, Simone Selistre, Juliana Duarte, Jorge Pinto Ribeiro, Paulo JC Vieira, Gabriel de Souza Macedo, Cristina Rossi, Mauro Czepielewski, Cristina Brinkmann Oliveira Netto, Pierre Hainaut, Patricia Ashton-Prolla BMC Cancer 2013, 13:187 (9 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	11.	Research article Expressional alterations in functional ultra-conserved non-coding rnas in response to all-trans retinoic acid - induced differentiation in neuroblastoma cells Karen M Watters, Kenneth Bryan, Niamh H Foley, Maria Meehan, Raymond L Stallings BMC Cancer 2013, 13:184 (8 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	12.	Research article Genetic variations of the A13/A14 repeat located within the EGFR 3′ untranslated region have no oncogenic effect in patients with colorectal cancer Nasrin Sarafan-Vasseur, David Sefrioui, David Tougeron, Aude Lamy, France Blanchard, Florence Le Pessot, Frédéric Di Fiore, Pierre Michel, Stéphane Bézieau, Jean-Baptiste Latouche, Thierry Frebourg, Richard Sesboüé BMC Cancer 2013, 13:183 (8 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	13.	Research article A combined blood based gene expression and plasma protein abundance signature for diagnosis of epithelial ovarian cancer - a study of the OVCAD consortium Dietmar Pils, Dan Tong, Gudrun Hager, Eva Obermayr, Stefanie Aust, Georg Heinze, Maria Kohl, Eva Schuster, Andrea Wolf, Jalid Sehouli, Ioana Braicu, Ignace Vergote, Toon Van Gorp, Sven Mahner, Nicole Concin, Paul Speiser, Robert Zeillinger BMC Cancer 2013, 13:178 (3 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	14.	Research article High resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancer Joana G Guedes, Isabel Veiga, Patrícia Rocha, Pedro Pinto, Carla Pinto, Manuela Pinheiro, Ana Peixoto, Maria Fragoso, Ana Raimundo, Paula Ferreira, Manuela Machado, Nuno Sousa, Paula Lopes, António Araújo, Joana Macedo, Fernando Alves, Camila Coutinho, Rui Henrique, Lúcio L Santos, Manuel R Teixeira BMC Cancer 2013, 13:169 (1 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	15.	Research article CD133 expression is not an independent prognostic factor in stage II and III colorectal cancer but may predict the better outcome in patients with adjuvant therapy Khalilullah Mia-Jan, So Young Jung, Ik-Yong Kim, Sung Soo Oh, EunHee Choi, Sei Jin Chang, Tae Young Kang, Mee-Yon Cho BMC Cancer 2013, 13:166 (28 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	16.	Research article Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population Maria Peña-Chilet, Maite Blanquer-Maceiras, Maider Ibarrola-Villava, Conrado Martinez-Cadenas, Manuel Martin-Gonzalez, Cristina Gomez-Fernadez, Matias Mayor, Juan Antonio Aviles, Ana Lluch, Gloria Ribas BMC Cancer 2013, 13:160 (27 March 2013) Abstract \| Provisional PDF \| PubMed
	17.	Research article Epigenetic regulation of L1CAM in endometrial carcinoma: comparison to cancer–testis (CT-X) antigens Uwe Schirmer, Heidi Fiegl, Marco Pfeifer, Alain G Zeimet, Elisabeth Müller-Holzner, Peter K Bode, Verena Tischler, Peter Altevogt BMC Cancer 2013, 13:156 (26 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	18.	Research article Insulin-like growth factor-1 genotypes and haplotypes influence the survival of prostate cancer patients with bone metastasis at initial diagnosis Norihiko Tsuchiya, Shintaro Narita, Takamitsu Inoue, Mitsuru Saito, Kazuyuki Numakura, Mingguo Huang, Shingo Hatakeyama, Shigeru Satoh, Seiichi Saito, Chikara Ohyama, Yoichi Arai, Osamu Ogawa, Tomonori Habuchi BMC Cancer 2013, 13:150 (25 March 2013) Abstract \| Full text \| PDF \| PubMed
	19.	Research article Derepression of Cancer/Testis Antigens in cancer is associated with distinct patterns of DNA Hypomethylation Robert Kim, Prakash Kulkarni, Sridhar Hannenhalli BMC Cancer 2013, 13:144 (22 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	20.	Research article Alcohol dehydrogenase, iron containing, 1 promoter hypermethylation associated with colorectal cancer differentiation Chung Hyun Tae, Kyung Ju Ryu, Seok-Hyung Kim, Hee Cheol Kim, Ho-Kyung Chun, Byung-Hoon Min, Dong Kyung Chang, Poong-Lyul Rhee, Jae J Kim, Jong Chul Rhee, Young-Ho Kim BMC Cancer 2013, 13:142 (22 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	21.	Research article A functional polymorphism T309G in MDM2 gene promoter, intensified by Helicobacter pylori lipopolysaccharide, is associated with both an increased susceptibility and poor prognosis of gastric carcinoma in Chinese patients Xiaolin Pan, Yuqin Li, Jin Feng, Xiaoyong Wang, Bo Hao, Ruihua Shi, Guoxin Zhang BMC Cancer 2013, 13:126 (18 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	22.	Research article The impact of KRAS mutations on VEGF-A production and tumour vascular network Agnès Figueras, Maria Antonia Arbos, Maria Teresa Quiles, Francesc Viñals, Josep Ramón Germà, Gabriel Capellà BMC Cancer 2013, 13:125 (18 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	23.	Research article Identification of TRPC6 as a possible candidate target gene within an amplicon at 11q21-q22.2 for migratory capacity in head and neck squamous cell carcinomas Sandra Bernaldo de Quirós, Anna Merlo, Pablo Secades, Iriana Zambrano, Ines Saenz de Santa María, Nerea Ugidos, Eloisa Jantus-Lewintre, Rafael Sirera, Carlos Suarez, María-Dolores Chiara BMC Cancer 2013, 13:116 (14 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	24.	Technical advance Detection and characterization of classical and “uncommon” exon 19 Epidermal Growth Factor Receptor mutations in lung cancer by pyrosequencing Luisella Righi, Alessandra Cuccurullo, Simona Vatrano, Susanna Cappia, Daniela Giachino, Paolo De Giuli, Mara Ardine, Silvia Novello, Marco Volante, Giorgio V Scagliotti, Mauro Papotti BMC Cancer 2013, 13:114 (13 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	25.	Research article Association of decreased mitochondrial DNA content with the progression of colorectal cancer HaiHong Cui, Ping Huang, ZhiJing Wang, YunXin Zhang, ZhenHua Zhang, Wei Xu, XiaoPeng Wang, Ying Han, XiaoMing Guo BMC Cancer 2013, 13:110 (12 March 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed