title: Genetics, cytogenetics, and epigenetics of colorectal cancer.
abstract: Most of the colorectal cancer (CRC) cases are sporadic, only 25% of the patients have a family history of the disease, and major genes causing syndromes predisposing to CRC only account for 5-6% of the total cases. The following subtypes can be recognized: MIN (microsatellite instability), CIN (chromosomal instability), and CIMP (CpG island methylator phenotype). CIN occurs in 80-85% of CRC. Chromosomal instability proceeds through two major mechanisms, missegregation that results in aneuploidy through the gain or loss of whole chromosomes, and unbalanced structural rearrangements that lead to the loss and/or gain of chromosomal regions. The loss of heterozygosity that occur in the first phases of the CRC cancerogenesis (in particular for the genes on 18q) as well as the alteration of methylation pattern of multiple key genes can drive the development of colorectal cancer by facilitating the acquisition of multiple tumor-associated mutations and the instability phenotype.
authors.affiliation: Department of Human and Environmental Sciences, University of Pisa, Street S. Giuseppe 22, 56126 Pisa, Italy. l.migliore@geog.unipi.it
authors.forename: Lucia
authors.initials: L
authors.lastname: Migliore
authors.forename: Francesca
authors.initials: F
authors.lastname: Migheli
authors.forename: Roberto
authors.initials: R
authors.lastname: Spisni
authors.forename: Fabio
authors.initials: F
authors.lastname: Coppedè
mesh_terms: D000782:Aneuploidy; D043171:Chromosomal Instability; D015179:Colorectal Neoplasms / Q000235:genetics*; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D019656:Loss of Heterozygosity; D053842:Microsatellite Instability; D009154:Mutation