BACKGROUND: In patients with colorectal carcinoma, insertions or deletions of short sequences of DNA, a phenomenon called microsatellite instability, are observed. AIM: To look for microsatellite instability and mutations of MLH1 and MSH2 gene mutations in patients with colorectal carcinoma. MATERIAL AND METHODS: Ten patients with sporadic colorectal carcinoma and 31 patients fulfilling criteria for hereditary nonpolyposis colon cancer (HNPCC), aged 9 to 70 years, were studied. Microsatellite instability was studied in samples of tumor and peripheral blood mononuclear cell DNA. Six markers were amplified by polymerase chain reaction and capillary electrophoresis. In samples with microsatellite instability, mutations of MLH1 and MSH2 genes were studied by direct sequencing. RESULTS: Thirty four percent of patients had microsatellite instability and among these, 76% had a high degree of instability. BAT40 marker had the higher frequency of instability. No mutations for MLH1 and MSH2 genes were observed. However a new polymorphism, C399T, was identified in exon 3 of MSH2 gene. This polymorphism was observed both in patients with sporadic colorectal carcinoma and patients with HNPCC. CONCLUSIONS: There is a high frequency of microsatellite instability among patients with colorectal cancer. A new polymorphism, not previously reported, was identified in MSH2 gene.
BACKGROUND: In patients with colorectal carcinoma, insertions or deletions of short sequences of DNA, a phenomenon called microsatellite instability, are observed. AIM: To look for microsatellite instability and mutations of MLH1 and MSH2 gene mutations in patients with colorectal carcinoma. MATERIAL AND METHODS: Ten patients with sporadic colorectal carcinoma and 31 patients fulfilling criteria for hereditary nonpolyposis colon cancer (HNPCC), aged 9 to 70 years, were studied. Microsatellite instability was studied in samples of tumor and peripheral blood mononuclear cell DNA. Six markers were amplified by polymerase chain reaction and capillary electrophoresis. In samples with microsatellite instability, mutations of MLH1 and MSH2 genes were studied by direct sequencing. RESULTS: Thirty four percent of patients had microsatellite instability and among these, 76% had a high degree of instability. BAT40 marker had the higher frequency of instability. No mutations for MLH1 and MSH2 genes were observed. However a new polymorphism, C399T, was identified in exon 3 of MSH2 gene. This polymorphism was observed both in patients with sporadic colorectal carcinoma and patients with HNPCC. CONCLUSIONS: There is a high frequency of microsatellite instability among patients with colorectal cancer. A new polymorphism, not previously reported, was identified in MSH2 gene.
Authors: Patricia E López-Correa; Leonardo S Lino-Silva; Armando Gamboa-Domínguez; César Zepeda-Najar; Rosa A Salcedo-Hernández Journal: J Gastrointest Cancer Date: 2018-09
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Authors: Carlos Alberto Vaccaro; Francisco López-Kostner; Della Valle Adriana; Edenir Inez Palmero; Benedito Mauro Rossi; Marina Antelo; Angela Solano; Dirce Maria Carraro; Nora Manoukian Forones; Mabel Bohorquez; Leonardo S Lino-Silva; Jose Buleje; Florencia Spirandelli; Kiyoko Abe-Sandes; Ivana Nascimento; Yasser Sullcahuaman; Carlos Sarroca; Maria Laura Gonzalez; Alberto Ignacio Herrando; Karin Alvarez; Florencia Neffa; Henrique Camposreis Galvão; Patricia Esperon; Mariano Golubicki; Daniel Cisterna; Florencia C Cardoso; Giovana Tardin Torrezan; Samuel Aguiar Junior; Célia Aparecida Marques Pimenta; Maria Nirvana da Cruz Formiga; Erika Santos; Caroline U Sá; Edite P Oliveira; Ricardo Fujita; Enrique Spirandelli; Geiner Jimenez; Rodrigo Santa Cruz Guindalini; Renata Gondim Meira Velame de Azevedo; Larissa Souza Mario Bueno; Sonia Tereza Dos Santos Nogueira; Mariela Torres Loarte; Jorge Padron; Maria Del Carmen Castro-Mujica; Julio Sanchez Del Monte; Carmelo Caballero; Carlos Mario Muñeton Peña; Joseph Pinto; Claudia Barletta-Carrillo; Gutiérrez Angulo Melva; Tamara Piñero; Paola Montenegro Beltran; Patricia Ashton-Prolla; Yenni Rodriguez; Richard Quispe; Norma Teresa Rossi; Claudia Martin; Sergio Chialina; Pablo German Kalfayan; Juan Carlos Bazo-Alvarez; Alcides Recalde Cañete; Constantino Dominguez-Barrera; Lina Nuñez; Sabrina Daniela Da Silva; Yesilda Balavarca; Patrik Wernhoff; John-Paul Plazzer; Pål Møller; Eivind Hovig; Mev Dominguez-Valentin Journal: Int J Cancer Date: 2018-12-05 Impact factor: 7.396