Identification of a novel mutation associated with familial adenomatous polyposis and colorectal cancer

摘要: Colorectal cancer (CRC) is among the most fatal forms of solid tumor in men and women. While majority diagnosed CRC cases are sporadic, 15‑25% patients have a family history adenomatous polyposis CRC; however, associated gene mutations remain largely unidentified. The aim present study was to investigate genomes four‑generational Chinese Han with familial identify potential genetic anomalies disease. Diagnoses were made by physical enteroscopic examinations all members. Mutational analyses CRC‑associated genes carried out direct sequencing, statistically significant differences polymorphisms between normal diseased populations determined. Multiple sequence alignment protein modeling conducted using Vector NTI DNAMAN software tools. Clinical pathological features examined consistent typical (FAP) syndrome. From these members, 131564T>C (p.1125Val>Ala) mutation identified exon 15 APC gene, 1126G>C (p.324Gln>His) exon 12 MUTYH gene. co‑segregated affected individuals specifically incidence (P=0.018 Ala led changes secondary structure hydrophilicity protein. In conclusion, FAP pathogenesis CRC.