Detection and characterization of mutations in the mismatch repair gene of a Filipino family with HNPCC (Hereditary Nonpolyposis Colorectal Cancer)

• Main Author: Evangelista, Ana Barbara S.
• Format: text
• Language: English
• Published: Animo Repository 2004
• Subjects: Mutations (Biology); Genetics > Research; Colon (Anatomy) > Cancer; Rectum > Cancer; Cancer > Genetic aspects
• Online Access: https://animorepository.dlsu.edu.ph/etd_masteral/3252
• Institution: De La Salle University

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal syndrome largely caused by germline mutations in any of the six mismatch repair genes. Eighty per cent of the reported cases are attributed to mutations in two MMR genes: hMLH1 and hMSH2. Mutation carriers exhibit a characteristic phe...