title: Chromosomal distributions of breakpoints in cancer, infertility, and evolution.
abstract: We extract 11 genome-wide sets of breakpoint positions from databases on reciprocal translocations, inversions and deletions in neoplasms, reciprocal translocations and inversions in families carrying rearrangements and the human-mouse comparative map, and for each set of positions construct breakpoint distributions for the 44 autosomal arms. We identify and interpret four main types of distribution: (i) a uniform distribution associated both with families carrying translocations or inversions, and with the comparative map, (ii) telomerically skewed distributions of translocations or inversions detected consequent to births with malformations, (iii) medially clustered distributions of translocation and deletion breakpoints in tumor karyotypes, and (iv) bimodal translocation breakpoint distributions for chromosome arms containing telomeric proto-oncogenes.
authors.affiliation: Centre de Recherches Mathématiques, Université de Montréal, CP 6128 succursale Centre-Ville, Montréal, Québec, Canada H3C 3J7.
authors.forename: David
authors.initials: D
authors.lastname: Sankoff
authors.forename: Melanie
authors.initials: M
authors.lastname: Deneault
authors.forename: Pascal
authors.initials: P
authors.lastname: Turbis
authors.forename: Chris
authors.initials: C
authors.lastname: Allen
mesh_terms: D000818:Animals; D005075:Biological Evolution; D002873:Chromosome Fragility; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D016208:Databases, Factual; D006801:Humans; D007246:Infertility / Q000235:genetics*; D051379:Mice; D009369:Neoplasms / Q000235:genetics*; D014178:Translocation, Genetic