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Although most of the pertinent data on the sequence-directed processes leading to genome rearrangements (GRs) have come from studies on somatic tissues, little is known about GRs in the germ line of patients with hereditary disorders. This study aims at identifying DNA motifs and higher order structures of genome architecture, which can result in losses and gains of genetic material in the germ line. We first identified candidate motifs by studying 112 pathogenic germ-line GRs in hereditary colorectal cancer patients, and subsequently created an algorithm, termed recombination type ratio, which correctly predicts the propensity of rearrangements with respect to homologous versus nonhomologous recombination events.

Original publication




Journal article


Hum Mutat

Publication Date





250 - 259


DNA signatures, genome architecture, germ-line genome rearrangements, hereditary colorectal cancer, hereditary disorders, homologous recombination, nonhomologous recombination, recombination type ratio, sequence-directed mutation, Adaptor Proteins, Signal Transducing, Adenomatous Polyposis Coli, Adenomatous Polyposis Coli Protein, Adenosine Triphosphatases, Antigens, Neoplasm, Base Sequence, Cell Adhesion Molecules, Chromosome Breakpoints, Chromosome Mapping, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Repair Enzymes, DNA-Binding Proteins, Epithelial Cell Adhesion Molecule, Homologous Recombination, Humans, Mismatch Repair Endonuclease PMS2, Molecular Sequence Annotation, MutL Protein Homolog 1, MutS Homolog 2 Protein, Nuclear Proteins, Sequence Analysis, DNA