Cytogenetics, gene fusions, and cancer.

Oncofuse: a computational framework for the prediction of the oncogenic potential of gene fusions

MOTIVATION Gene fusions resulting from chromosomal aberrations are an important cause of cancer. The complexity of genomic changes in certain cancer types has hampered the identification of gene fusions by molecular cytogenetic methods, especially in carcinomas. This is changing with the advent of next-generation sequencing, which is detecting a substantial number of new fusion transcripts in i...

Cytoplasmic Her2/neu immunohistochemical staining in breast cancer; From a molecular point of view

Diagnosis and Disease Management in CML Patients Using Conventional and Molecular Cytogenetics

Chronic Myeloid Leukemia (CML) is a hematopoietic malignancy characterized by the presence ofPhiladelphia (Ph1) chromosome that results from balanced reciprocal translocation between chromosomes9 and 22 leading in the formation of bcr/abl fusion gene. The present study was conducted to evaluate cytogenetic and molecular abnormalities in CML patients at presentation and during the co...

Origin of Chromosomal Translocations in Lymphoid Cancer

Aberrant fusions between heterologous chromosomes are among the most prevalent cytogenetic abnormalities found in cancer cells. Oncogenic chromosomal translocations provide cells with a proliferative or survival advantage. They may either initiate transformation or be acquired secondarily as a result of genomic instability. Here, we highlight recent advances toward understanding the origin of c...

Molecular pathways: targeting ETS gene fusions in cancer.

Rearrangements, or gene fusions, involving the ETS family of transcription factors are common driving events in both prostate cancer and Ewing sarcoma. These rearrangements result in pathogenic expression of the ETS genes and trigger activation of transcriptional programs enriched for invasion and other oncogenic features. Although ETS gene fusions represent intriguing therapeutic targets, tran...

Comprehensive genome and transcriptome analysis reveals genetic basis for gene fusions in cancer

Gene fusions are an important class of cancer-driving events with therapeutic and diagnostic values, yet their underlying genetic mechanisms have not been systematically characterized. Here by combining RNA and whole genome DNA sequencing data from 1188 donors across 27 cancer types we obtained a list of 3297 high-confidence tumour-specific gene fusions, 82% of which had structural variant (SV)...