Cytogenetic biomarkers for human cancer

Abstract

Human cancer cytogenetics is the study of chromosomal rearrangements and numerical abnormalities in malignant tissue. Since the 1960s and the discovery of the Philadelphia chromosome, hundreds of common and characteristic chromosomal aberrations have been observed in various neoplasias. Because these cytogenetic aberrations provide diagnostic, prognostic, and treatment-related information for the associated cancers, they are considered biomarkers for disease. Here we describe many of the best-known chromosome rearrangements and variant rearrangements in hematologic disease and solid tumors, indicate the genes and underlying molecular mechanisms known to be involved in development and progression of disease, and describe the newer molecular cytogenetic technologies and how they are currently being used in cancer diagnostics. We also highlight many important pit-falls in obtaining, transporting, and analyzing neoplastic samples which can compromise cytogenetic studies and preclude its use as a diagnostic tool.

Micronuclei in breast aspirates. Is scoring them helpful?

“…[1] These aberrations are not always shared by cells of the same tumor and may not necessarily linked to a particular tumor type. [2] It was Theodor Boveri who first observed that cells with supernumerary centromeres missegregated their chromosomes through the assembly of multipolar spindles and hypothesized that those abnormal chromosomes might contribute towards carcinogenesis. [3] Micronuclei has been used as a measurement and bio monitoring of genotoxicity of various carcinogens, heavy metal poisoning, antineoplastic drugs, pollutants etc., In last few decades it has been used as a biomarker of chromosomal damage, genome instability and cancer risk.…”

A Novel Three-Colour Fluorescence in Situ Hybridization Approach for the Detection of t(7;12)(q36;p13) in Acute Myeloid Leukaemia Reveals New Cryptic Three Way Translocation t(7;12;16)

“…Chromosomal abnormalities are a hallmark of cancer, with numerous examples of non-random translocations found in leukaemia [1,2]. Recurrent chromosomal abnormalities are used in the clinical practice for their diagnostic and prognostic value, their association with specific subtypes and subsequently as parameters on which to base therapy decisions.…”

Cdk1 Targets Srs2 to Complete Synthesis-Dependent Strand Annealing and to Promote Recombinational Repair

“…Homologous recombination (HR) is a fundamental DNA repair pathway and its deregulation is responsible for a variety of genomic rearrangements, including chromosome loss, DNA translocations and inversions, which are typical of the genetic alterations seen in tumor cells (reviewed in [1]). The mechanisms and proteins involved in HR have been well conserved throughout evolution and much of our knowledge on HR comes from studies conducted in the yeast Saccharomyces cerevisiae (reviewed in [2]–[5]).…”