Balkan Journal of Medical Genetics

DETECTION OF ALLELIC VARIANTS OF THE POLE AND POLD1 GENES IN COLORECTAL CANCER PATIENTS
Pätzold LA, Bērziņa D, Daneberga Z, Gardovskis J, Miklaševičs E*
*Corresponding Author: Professor Dr. Edvīns Miklaševičs, Institute of Oncology, Riga Stradiņš University, Dzirciema iela 16, Riga LV1007, Latvia. Tel: +371-6770-4028. Fax: +371-6706-9545. E-mail: edvins. miklasevics@rsu.lv
page: 83

RESULTS

All screened patients were negative for allelic variant rs483352909 of the POLE gene. Only one sample showed a disturbed chromatogram peak profile. Upon sequencing it was identified as the allelic variant of the POLE gene rs373243003 (c.1227-49C>T) (Figure 3), which is probably benign as the base substitution is in the intron and may not affect the protein synthesis. The allelic variant rs397514632 of the POLD1 gene was not found in any patient. Nevertheless, a duplication of four nucleotides at the excision site between intron and exon (c.1384-5dup CCTA) was found (Figure 4), which may alter the splicing site. The patient carrying this allelic variant of the POLD1 gene was diagnosed with colorectal cancer at the age of 73. He reported no family history of colorectal cancer but the full pedigree for this family was not available.

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