title: Genetic variations of the CTNNA1 and the CTNNB1 genes in sporadic colorectal cancer in Polish population.
abstract: Experimental as well as clinical observations have demonstrated that the E-cadherin/catenin complex is a powerful inhibitor of invasion. Abrogation of this pathway is implicated in the carcinogenesis of several malignancies, especially colorectal cancer. The aim of the study was to determine the CTNNA1 and the CTNNB1 mutations and its relationship to clinical and pathological features of sporadic colorectal cancer (CRC) in Polish patients.
  
  
  METHODS
  Paired tumor and normal tissue samples from 110 sporadic CRC patients undergoing resective surgery were prospectively studied for the alpha catenin (CTNNA1) gene and beta catenin (CTNNB1)gene mutations by PCR/single strand conformation polymorphism (SSCP).
  
  
  RESULTS
  The CTNNA1 gene alteration in exon 7 were detected in 4 samples and in exon 3 of CTNNB1 gene were found in 3 samples. There was a trend at the limit of statistical significance associating younger age at diagnosis (<50) with CTNNA1 and the CTNNB1 mutations. The mutation of CTNNB1 seemed to occur more frequently in the proximal colon than distal. The CRC patients with CTNNA1 mutation had a significantly increased lymph node metastasis. On the other hand, there was no correlation between mutations and the other clinical variables (e.g. sex, grade and depth of invasion).
  
  
  CONCLUSIONS
  Although we found a low frequency of mutations in the CTNNA1 and the CTNNB1 genes, but the analysis the relationship with clinical and pathological features of CRC patients may indicated an association of these mutations with the risk and progression of CRC.
authors: Andrzej
authors: A
authors: Sygut
authors: Karolina
authors: K
authors: Przybyłowska
authors: Tomasz
authors: T
authors: Ferenc
authors: Łukasz
authors: Ł
authors: Dziki
authors: Michał
authors: M
authors: Spychalski
authors: Michał
authors: M
authors: Mik
authors: Adam
authors: A
authors: Dziki
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology*; D005260:Female; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011044:Poland; D051178:alpha Catenin / Q000235:genetics*; D051176:beta Catenin / Q000235:genetics*
chemical_list: C495273:CTNNA1 protein, human; C495270:CTNNB1 protein, human; D051178:alpha Catenin; D051176:beta Catenin