Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1

Felipe Bellolio R, Karin Álvarez V, Marjorie De la Fuente L, Francisca León G, Demian A Fullerton M, Gonzalo Soto D, Pilar Carvallo de SQ, Francisco López-Köstner
2006 Revista médica de Chile (Impresa)  
Among colorectal cancer hereditary variants, two syndromes show a predisposition to the disease based on germline mutations: Familial Adenomatous Polyposis (FAP) and Hereditary Nonpolyposis Colorectal Cancer (HNPCC). Aim: To screen mutations in FAP and HNPCC families in Chile. Materials and Methods: Two FAP and one HNPCC families were studied. The APC gene (for FAP patients) and the MLH1 gene (for HNPCC patients), were screened for mutations on genomic DNA. The molecular analysis was performed
more » ... hrough polymerase chain reaction, Single Strand Conformer Polymorphism (SSCP) and DNA sequencing. Mutations were defined as changes in the DNA sequence leading into a stop codon and a truncated protein. Results: In the two FAP families the analysis revealed a mutation consisting in the deletion of five nucleotides named c.3927_3931delAAAGA. The genetic study of the HNPCC family demonstrated the insertion of one adenine in codon 168 of exon 6, named c.504insA. Discussion: Germ-line mutations were identified in the three families. The relevance of these studies in a better knowledge of cancer susceptibility, and the possibility of identifying in relatives in risk by molecular diagnosis (Rev Méd Chile 2006; 134: 841-8). (
doi:10.4067/s0034-98872006000700006 pmid:17130966 fatcat:tfvxwghi2nf23iw7asc4k5zkoi