title: Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer.
abstract: Lynch syndrome and familial colorectal cancer type X, FCCTX, represent the two predominant colorectal cancer syndromes. Whereas Lynch syndrome is clinically and genetically well defined, the genetic cause of FCCTX is unknown and genomic differences between Lynch syndrome and FCCTX tumours are largely unknown. We applied array-based comparative genomic hybridisation to 23 colorectal cancers from FCCTX with comparison to 23 Lynch syndrome tumours and to 45 sporadic colorectal cancers. FCCTX tumours showed genomic complexity with frequent gains on chromosomes 20q, 19 and 17 and losses of 18, 8p and 15. Gain of genetic material in two separate regions encompassing, 20q12-13.12 and 20q13.2-13.32, was identified in 65% of the FCCTX tumours. Gain of material on chromosome 20q and loss on chromosome 18 significantly discriminated colorectal cancers associated with FCCTX from Lynch syndrome, which likely signifies different preferred tumourigenic pathways.
authors.affiliation: The Danish HNPCC Register, Clinical Research Centre and Department of Gastroenterology, Copenhagen University Hospital, Hvidovre, Denmark. 2xtherkild@gmail.com
authors.forename: Christina
authors.initials: C
authors.lastname: Therkildsen
authors.forename: Göran
authors.initials: G
authors.lastname: Jönsson
authors.forename: Mev
authors.initials: M
authors.lastname: Dominguez-Valentin
authors.forename: Anja
authors.initials: A
authors.lastname: Nissen
authors.forename: Eva
authors.initials: E
authors.lastname: Rambech
authors.forename: Britta
authors.initials: B
authors.lastname: Halvarsson
authors.forename: Inge
authors.initials: I
authors.lastname: Bernstein
authors.forename: Ke
authors.initials: K
authors.lastname: Borg
authors.forename: Mef
authors.initials: M
authors.lastname: Nilbert
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods; D056915:DNA Copy Number Variations; D003937:Diagnosis, Differential; D005192:Family Health; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008297:Male; D008875:Middle Aged; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity