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Cancer genetics

Genome Biology Collection

cancer genomics © Ewing et al., Genome Biology (2013)Cancer is a disease of the genome, arising from various types of genomic changes that alter the behaviour of cells. A number of genomic and post-genomic studies have been conducted to provide insight into the molecular mechanisms underlying the development of cancer. In this Genome Biology collection, we showcase recent efforts to provide a comprehensive perspective on cancer, including tumor initiation, metastasis, and drug resistance.

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  1. Intrachromosomal amplification of chromosome 21 (iAMP21) results from breakage-fusion-bridge cycles and chromothripsis is a distinct marker of a subgroup of B cell acute lymphoblastic leukemia (B-ALL) cases as...

    Authors: Jun Gu, Alexandra Reynolds, Lianghua Fang, Corrie DeGraffenreid, Kenneth Sterns, Keyur P. Patel, L. Jeffrey Medeiros, Pei Lin and Xinyan Lu

    Citation: Molecular Cytogenetics 2016 9:84

    Content type: Research

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  2. Constitutional translocations between sex chromosomes are rather rare in humans with breakpoints at Xp11 and Yq11 as the most frequent. Breakpoints on the short arm of the Y chromosome form one subgroup of t(X...

    Authors: Lenka Pavlistova, Silvia Izakova, Zuzana Zemanova, Lucie Bartuskova, Martina Langova, Pavlina Malikova and Kyra Michalova

    Citation: Molecular Cytogenetics 2016 9:67

    Content type: Case Report

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  3. Cytogenetic abnormalities are important prognostic markers in plasma cell myeloma (PCM) and detection is routinely performed by interphase fluorescence in-situ hybridization (FISH) with a panel of probes after...

    Authors: Edmond S. K. Ma, Candy L. N. Wang, Anthony T. C. Wong, Gigi Choy and Tsun Leung Chan

    Citation: Molecular Cytogenetics 2016 9:63

    Content type: Methodology

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  4. Sex chromosome loss (SCL), including loss of an X chromosome (-X) in females and loss of the Y chromosome (-Y) in males, resulting in a karyotype of 45,X, rarely occurs in patients post an allogeneic hematopoi...

    Authors: Zhenya Tang, L. Jeffrey Medeiros, C. Cameron Yin, Wei Wang, Xinyan Lu, Ken H. Young, Joseph D. Khoury and Guilin Tang

    Citation: Molecular Cytogenetics 2016 9:62

    Content type: Research

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  5. Despite progression in treatment of gastric cancer, prognosis of patients remains poor, in part due to the low rate of diagnosis during its early stages. This paradigm implies the necessity to identify molecul...

    Authors: T. M. Araújo, A. D. Seabra, E. M. Lima, P. P. Assumpção, R. C. Montenegro, S. Demachki, R. M. Burbano and A. S. Khayat

    Citation: Molecular Cytogenetics 2016 9:52

    Content type: Short report

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  6. BCR-ABL1 fusion proteins contain constitutively active tyrosine kinases that are potential candidates for targeted therapy with tyrosine kinase inhibitors such as imatinib in chronic m...

    Authors: Xiaodong Lyu, Jingke Yang, Xianwei Wang, Jieying Hu, Bing Liu, Yu Zhao, Zhen Guo, Bingshan Liu, Ruihua Fan and Yongping Song

    Citation: Molecular Cytogenetics 2016 9:47

    Content type: Case Report

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  7. Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy. Based on literature reports of limited cases, over 50 % of BPDCN have chromosomal abnormalities, but no single chromosomal...

    Authors: Zhenya Tang, Guilin Tang, Sa A. Wang, Xinyan Lu, Ken H. Young, Carlos E. Bueso-Ramos, Yesid Alvarado, L. Jeffrey Medeiros and Joseph D. Khoury

    Citation: Molecular Cytogenetics 2016 9:23

    Content type: Case Report

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  8. Wilms tumor (WT) has a not completely elucidated pathogenesis. DNA copy number alterations (CNAs) are common in cancer, and often define key pathogenic events. The aim of this work was to investigate CNAs in o...

    Authors: A. C. V. Krepischi, M. Maschietto, E. N. Ferreira, A. G. Silva, S. S. Costa, I. W. da Cunha, B. D. F. Barros, P. E. Grundy, C. Rosenberg and D. M. Carraro

    Citation: Molecular Cytogenetics 2016 9:20

    Content type: Research

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  9. Diffuse astrocytomas are characterized by their highly variable biological behavior. The possibility that tumors develop novel aberrations, with relevant biological properties, is often neglected. In this stud...

    Authors: Halka Lhotska, Zuzana Zemanova, Hana Cechova, Sarka Ransdorfova, Karla Svobodova, Filip Kramar, Zdenek Krejcik and Kyra Michalova

    Citation: Molecular Cytogenetics 2016 9:13

    Content type: Short report

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  10. Deletion of 13q14 is the most common cytogenetic change in chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) and is detected in about 50 % of patients by fluorescence in situ hybridization (FIS...

    Authors: Beata Grygalewicz, Renata Woroniecka, Jolanta Rygier, Klaudia Borkowska, Iwona Rzepecka, Martyna Łukasik, Agnieszka Budziłowska, Grzegorz Rymkiewicz, Katarzyna Błachnio, Beata Nowakowska, Magdalena Bartnik, Monika Gos and Barbara Pieńkowska-Grela

    Citation: Molecular Cytogenetics 2016 9:1

    Content type: Research

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  11. Musashi2(Msi2)-Numb pathway de-regulation is a molecular mechanism underlying the transition of chronic phase Ph + CML to deadly blast crisis, particularly in cases with a NUP98/HOXA9 fusion from a t(7;11)(p15;p1...

    Authors: Danika Di Giacomo, Valentina Pierini, Gianluca Barba, Veronica Ceccarelli, Alba Vecchini and Cristina Mecucci

    Citation: Molecular Cytogenetics 2014 7:42

    Content type: Case report

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  12. Advances in genome-wide molecular cytogenetics allow identification of novel submicroscopic DNA copy number alterations (aCNAs) and copy-neutral loss of heterozygosity (cnLOH) resulting in homozygosity for kno...

    Authors: Morteza Hemmat, Weina Chen, Arturo Anguiano, Mohammed El Naggar, Frederick K Racke, Dan Jones, Yongbao Wang, Charles M Strom, Karl Chang and Fatih Z Boyar

    Citation: Molecular Cytogenetics 2014 7:35

    Content type: Case report

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  13. Myelofibrosis occurs as primary myelofibrosis or as a late occurrence in the evolution of essential thrombocythaemia and polycythaemia vera. It is the rarest of the three classic myeloproliferative neoplasms (...

    Authors: Nisha R Singh, Christine M Morris, Mary Koleth, Kelly Wong, Christopher M Ward and William S Stevenson

    Citation: Molecular Cytogenetics 2013 6:59

    Content type: Research

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  14. An interstitial deletion of the long arms of chromosome 20, del(20)(q), is frequent in the bone marrow (BM) of patients with myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and myeloproliferativ...

    Authors: Roberto Valli, Barbara Pressato, Cristina Marletta, Lydia Mare, Giuseppe Montalbano, Francesco Lo Curto, Francesco Pasquali and Emanuela Maserati

    Citation: Molecular Cytogenetics 2013 6:56

    Content type: Research

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  15. Acute myeloid leukemia (AML) comprises a spectrum of myeloid malignancies which are often associated with distinct chromosomal abnormalities, and the analysis of such abnormalities provides us with important i...

    Authors: Christian Paar, Gabriele Herber, Daniela Voskova, Michael Fridrik, Herbert Stekel and Jörg Berg

    Citation: Molecular Cytogenetics 2013 6:40

    Content type: Case report

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  16. ETV6-ABL1 is a rare gene fusion with oncogenic properties, reported so far in 28 patients presenting a variety of haematological malignancies associated with clinical outcome, including chronic myeloid leukaemia ...

    Authors: Katya Gancheva, Andres Virchis, Julie Howard-Reeves, Nick CP Cross, Diana Brazma, Colin Grace, Paul Kotzampaltiris, Fedra Partheniou and Elisabeth Nacheva

    Citation: Molecular Cytogenetics 2013 6:39

    Content type: Case report

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  18. Acute myelogeneous leukemia (AML) is a malignancy of the hematopoietic stem cells, for which cytogenetic analysis is still one of the most important diagnostic and prognostic tools. Still, we are far away from...

    Authors: Walid Al-achkar, Abdulmunim Aljapawe, Moneeb Abdullah Kassem Othman and Abdulsamad Wafa

    Citation: Molecular Cytogenetics 2013 6:18

    Content type: Case report

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  19. The so-called Philadelphia (Ph) chromosome is present in more than 90% of chronic myeloid leukemia (CML) cases. It results in juxtaposition of the 5′ part of the BCR gene on chromosome 22 to the 3′ part of the...

    Authors: Walid Al-achkar, Abdulsamad Wafa, Faten Moassass and Moneeb Abdullah Kassem Othman

    Citation: Molecular Cytogenetics 2012 5:36

    Content type: Case report

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  20. Translocation (9;22)(q34;q11.2) resulting in BCR/ABL1 fusion at the molecular level is the hallmark of chronic myelogenous leukemia (CML). Variants of the Philadelphia translocation and complex translocations ...

    Authors: Mohamed M Elnaggar, Sally Agersborg, Trilochan Sahoo, Ati Girgin, Wanlong Ma, Ronjay Rakkhit, Isabel Zorrilla and Alexis Leal

    Citation: Molecular Cytogenetics 2012 5:23

    Content type: Case report

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  21. About 5-10 % of chronic myelogenous leukemia (CML) patients show variant Philadelphia (Ph) translocations. The formation mechanisms and clinical significance of variant Ph translocations remain unclear. We rep...

    Authors: Sho Yokota, Yuichi Nakamura and Masami Bessho

    Citation: Molecular Cytogenetics 2012 5:20

    Content type: Case report

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  22. The analysis of nucleic acids is limited by the availability of archival specimens and the quality and amount of the extracted material. Archived cytogenetic preparations are stored in many laboratories and ar...

    Authors: Ruth N MacKinnon, Carly Selan, Adrian Zordan, Meaghan Wall, Harshal Nandurkar and Lynda J Campbell

    Citation: Molecular Cytogenetics 2012 5:10

    Content type: Methodology

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  23. Myelodysplastic syndrome (MDS) represents a group of clonal hematological disorders characterized by progressive cytopenia, and reflects to defects in erythroid, myeloid and megakaryocytic maturation. MDS is m...

    Authors: Walid Al-Achkar, Abdulsamad Wafa, Elisabeth Klein and Abdulmunim Aljapawe

    Citation: Molecular Cytogenetics 2011 4:16

    Content type: Case report

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  24. To evaluate the clinical validity of genome-wide oligonucleotide array comparative genomic hybridization (aCGH) for detecting somatic abnormalities, we have applied this genomic analysis to 30 cases (13 MDS an...

    Authors: Renu Bajaj, Fang Xu, Bixia Xiang, Katherine Wilcox, Autumn J DiAdamo, Rachana Kumar, Alexandra Pietraszkiewicz, Stephanie Halene and Peining Li

    Citation: Molecular Cytogenetics 2011 4:3

    Content type: Research

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