Journal of Carcinogenesis & Mutagenesis

Marco Matejcic

Publications

• Research Article
  Screening the APC, MLH1, MSH2 and TP53 Mutations in Patients with Early Onset of Colorectal Cancer
  Author(s): Leyla Djansugurova, Gulnur Zhunussova, Elmira Khussainova, Olzhas Iksan, Georgiy Afonin, Dilyara Kaidarova, Marco Matejcic and M. Iqbal ParkerLeyla Djansugurova, Gulnur Zhunussova, Elmira Khussainova, Olzhas Iksan, Georgiy Afonin, Dilyara Kaidarova, Marco Matejcic and M. Iqbal Parker
  
  Objective: A molecular-genetic study of early onset colorectal cancer (CRC) patients in Kazakhstan. Methods: The direct sequencing of crucial regions of key CRC genes (APC codons between nucleotides 967-1386 and 1286–1513; exons 8 and 16 of MLH1 and exon 7 of MSH2; exons 5-9 of TP53) was performed for early cancer-onset and suspected familial cases. Results: Blood was collected from 249 patients diagnosed with rectal or colon cancer. There were 32 patients with early onset CRC (28-50 yrs), including 10 patients with a family history of cancer. Two types of nucleotide replacements were detected in intron 4 (c.376-19C>T) and intron 9 (c.993+12T>C) of TP53, both in the heterozygous state. Another nucleotide substitution was present in 15 patients in intron 15 of MLH1 (c.1732-90C>A) while known coding po.. View More»
  DOI: 10.4172/2157-2518.1000197

  Abstract PDF