The Human Genome Project
Post-genomic era: DNA sequencing
DNA sequence variations: Single Nucleotide Polymorphism (SNP), Short Sequence Repeats (SSR), Copy Number Variation (CNV)
Applications of the Human Genome Project: multifactorial inheritance and genetic diseases
Online Mendelian Inheritance in Man (OMIM)
Patogenetic mutations: Cancer Genome Landscapes by Vogelstein
Genetic alterations in the progression of CRC: the VOGELGRAM
Familial predisposition in colorectal cancer: Familial Adenomatous Polyposis (FAP), MUTYH-associated polyposis (MAP), Hereditary Non Polyposis Colorectal Cancer (HNPCC)
Main methods of molecular biology useful for the diagnosis of genetic diseases: mutational analysis by DHPLC, multiplex-PCR, sequencing analysis, promoter methylation analysis
