title: [Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements].
abstract: The recent discovery of a new kind of massive chromosomal rearrangement in different cancers, named "chromothripsis" (chromo for chromosome, thripsis for shattering) has questioned the established models for a progressive development of tumors. Indeed, this phenomenon, which is characterized by the shattering of one (or a few) chromosome segments followed by a random reassembly of the fragments generated, occurs during one unique cellular event. The same phenomenon was identified in constitutional genetics in patients with various developmental pathologies, indicating that chromothripsis also occurs at the germ cell level. Diverse situations can cause chromothripsis (radiations, telomere erosion, abortive apoptosis, etc.), and two express "repair routes" are used by the cell to chaotically reorganise the chromosomal regions concerned: non-homologous end-joining and repair by replicative stress. The in-depth analysis of the DNA sequences involved in the regions of chromothripsis leads to a better understanding of the molecular basis of chromothripsis and also helps to better apprehend its unexpected role in the development of constitutional pathologies and the progression of cancers.
authors.affiliation: Laboratoire de génétique chromosomique, hôpital Arnaud de Villeneuve, CHRU de Montpellier, 371, avenue du doyen Gaston Giraud, 34295 Montpellier, France.
authors.forename: Franck
authors.initials: F
authors.lastname: Pellestor
authors.affiliation: Laboratoire de génétique chromosomique, hôpital Arnaud de Villeneuve, CHRU de Montpellier, 371, avenue du doyen Gaston Giraud, 34295 Montpellier, France.
authors.forename: Vincent
authors.initials: V
authors.lastname: Gatinois
authors.affiliation: Laboratoire de génétique chromosomique, hôpital Arnaud de Villeneuve, CHRU de Montpellier, 371, avenue du doyen Gaston Giraud, 34295 Montpellier, France.
authors.forename: Jacques
authors.initials: J
authors.lastname: Puechberty
authors.affiliation: Laboratoire de génétique chromosomique, hôpital Arnaud de Villeneuve, CHRU de Montpellier, 371, avenue du doyen Gaston Giraud, 34295 Montpellier, France.
authors.forename: David
authors.initials: D
authors.lastname: Geneviève
authors.affiliation: Laboratoire de génétique chromosomique, hôpital Arnaud de Villeneuve, CHRU de Montpellier, 371, avenue du doyen Gaston Giraud, 34295 Montpellier, France.
authors.forename: Geneviève
authors.initials: G
authors.lastname: Lefort
mesh_terms: D017209:Apoptosis / Q000235:genetics; D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis; D059766:DNA End-Joining Repair / Q000502:physiology; D053938:DNA Fragmentation; D006801:Humans; D009369:Neoplasms / Q000235:genetics