A Story of Swapped Ends

  title={A Story of Swapped Ends},
  author={Janet D. Rowley},
  pages={1412 - 1413}
  • J. Rowley
  • Published 21 June 2013
  • Medicine
  • Science
Forty years ago, a chromosomal translocation was discovered to cause leukemia and revealed cancer as a genetic disease. [Also see Book Review by Nadkarni] It was dubbed the “Philadelphia chromosome,” named after the city where the abnormal chromosome was first described in 1960 (1). Peter Nowell, of the University of Pennsylvania, and David Hungerford, at the Fox Chase Cancer Center, had taken a close look at patients with chronic myeloid leukemia (CML) and found that regardless of sex, they… 
Pathological role of a point mutation (T315I) in BCR‐ABL1 protein—A computational insight
It is found that due to mutation at 315th position (threonine to isoleucine), original structures deviated from normal, and attained a flexible conformation, paving a clear path toward designing new inhibitors against resistant BCR‐ABL1 protein.
Two-phased evolution: Genome chaos-mediated information creation and maintenance.
Janet Rowley 1925–2013: a rock star of haematology and genetics
  • P. Hokland
  • Medicine
    British journal of haematology
  • 2014
Her work provided the first indications of the crucial link between chromosomal abnormalities and cancer, ultimately leading to the development of targeted therapy with the revolutionary introduction of Imatinib for the therapy of chronic myeloid leukaemia (CML).
Correlative-causative structures and the 'pericause': an analysis of causation and a model based on cellular biology
A simple formalization of the general structure of cause and correlation is presented and the context in which a causal structure could take shape, termed the 'pericause', is proposed as a tractable and uninvestigated concept which could theoretically play a crucial role in determining the effects of a cause.
Whole-transcriptome sequencing identifies a distinct subtype of acute lymphoblastic leukemia with predominant genomic abnormalities of EP300 and CREBBP.
The results indicate that gene fusion is a common class of genomic abnormalities in childhood ALL and that recurrent translocations involving EP300 and CREBBP may cause epigenetic deregulation with potential for therapeutic targeting.
Genomic Inverse PCR for Exploration of Ligated Breakpoints (GIPFEL), a New Method to Detect Translocations in Leukemia
A novel method “Genomic inverse PCR for exploration of ligated breakpoints” (GIPFEL) that allows the sensitive detection of recurrent chromosomal translocations and makes it particularly attractive for prospective studies.
JAK2 Variant Signaling: Genetic, Hematologic and Immune Implication in Chronic Myeloproliferative Neoplasms
The aim of this review is to describe the main genetic, hematological and immunological findings that are linked to JAK2 variant signaling in chronic myeloproliferative neoplasms.
A cell competition–based small molecule screen identifies a novel compound that induces dual c-Myc depletion and p53 activation
A novel compound is identified that dually targets c-Myc and p53 in a wide variety of cancers, and with particularly strong activity against LSCs.
A cell competition-based drug screen identifies a novel compound that induces dual c-Myc depletion and p53 activation
A novel compound is identified that dually targets c-Myc and p53 in a wide variety of cancers, and with particularly strong activity against leukemic stem cells.
The promise of omics-based approaches to cancer prevention.
How the knowledge gained through large-scale omics-oriented approaches, with a focus on variations at the level of nucleic acids, can inform the field of chemoprevention is emphasized.


The impact of translocations and gene fusions on cancer causation
An analysis of available data shows that gene fusions occur in all malignancies, and that they account for 20% of human cancer morbidity, with the advent of new and powerful investigative tools that enable the detection of cytogenetically cryptic rearrangements.
A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia
Positive hybridization is found when the 22q−(the Philadelphia chromosome), and not the 9q+ derivative of the translocation, is present in the cell hybrids, and this finding is a direct demonstration of a reciprocal exchange between the two chromosomes and suggests a role for the c-abl gene in the generation of CML.
Localization of the c-abl oncogene adjacent to a translocation break point in chronic myelocytic leukaemia
The human c-abl oncogene maps within the region (q34-qter) of chromosome 9 which is translocated to chromosome 22, the Philadelphia (Ph′) chromosome, in chronic myelocytic leukaemia (CML). The
A New Consistent Chromosomal Abnormality in Chronic Myelogenous Leukaemia identified by Quinacrine Fluorescence and Giemsa Staining
An unsuspected abnormality in all cells from the nine patients with chronic myelogenous leukaemia has been detected with quinacrine fluorescence and various Giemsa staining techniques, suggesting that there may be a hitherto undetected translocation between the long arm of 22 and thelong arm of 9, producing the 9q+ chromosome.
Chromosomal localization of human cellular homologues of two viral oncogenes
It is shown that the human equivalents of c-fes and c-abl are localized on human chromosomes 15 and 9, respectively, and this findings exclude the possibility that these transformation-related genes are clustered at a single locus within the human genome.
Clinical implications of cytogenetic variants in chronic myelocytic leukemia (CML).
The development of other chromosomal abnormalities in Ph1 positive patients presaged the terminal stage of the disease.
Translocation of the c-myc gene into the immunoglobulin heavy chain locus in human Burkitt lymphoma and murine plasmacytoma cells.
  • R. Taub, I. Kirsch, P. Leder
  • Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1982
It is shown that transformation of human Burkitt lymphomas and murine plasmacytomas is frequently accompanied by the somatic rearrangement of a cellular analogue of an avian retrovirus transforming gene, c-myc, which provides a molecular basis for considering the role that specific translocations might play in malignant transformation.
Fused transcript of abl and bcr genes in chronic myelogenous leukaemia
Characterization of an 8-kilobase RNA specific to chronic myelogenous leukaemia shows it to be a fused transcript of the two genes, which is probably involved in the malignant process.
Cancer Genome Landscapes
This work has revealed the genomic landscapes of common forms of human cancer, which consists of a small number of “mountains” (genes altered in a high percentage of tumors) and a much larger number of "hills" (Genes altered infrequently).