LA Pätzold, D Bērziņa, Z Daneberga, J Gardovskis, E Miklaševičs
Institute of Oncology, Riga Stradiņš University, Riga, Latvia.
Balkan J Med Genet. 2017 Dec 29;20(2):83-88. doi: 10.1515/bjmg-2017-0028. eCollection 2017 Dec.
Incidence of colorectal cancer is high worldwide and it mostly occurs as an accumulation of environmental factors and genetic alterations. Hereditary colorectal cancer can develop as a part of a hereditary syndrome. There is a suspected correlation between colorectal cancer and allelic variants of the and genes. The aim of the present study was to look for associations between the allelic variants in the and genes and colorectal cancer. One thousand, seven hundred and forty-nine DNA samples from colorectal cancer patients were collected from 2002 to 2013. Samples were divided in three groups: hereditary colorectal cancer patients, patients with different hereditary cancer syndromes in their families and patients with no cancer history in their families. The DNA samples were screened for allelic variants of rs483352909 and rs39751463 using denaturing high performance liquid chromatography (DHPLC). All patients were negative for allelic variants rs483352909 of the gene and rs397514632 of the gene. One allelic variant rs373243003 in the gene and one novel duplication of four nucleotides at the excision site between intron and exon (c.1384-5dupCCTA) in the gene, was found. We could not detect or confirm the connection between the genetic variants in the and genes and colorectal cancer patients, but we detected a novel genetic variant with an unknown significance.
结直肠癌在全球范围内发病率较高，其发生主要是环境因素和基因改变积累的结果。遗传性结直肠癌可作为遗传性综合征的一部分出现。结直肠癌与某些基因的等位基因变异之间存在疑似关联。本研究的目的是寻找这些基因的等位基因变异与结直肠癌之间的关联。2002年至2013年收集了1749份来自结直肠癌患者的DNA样本。样本分为三组：遗传性结直肠癌患者、家族中有不同遗传性癌症综合征的患者以及家族中无癌症病史的患者。使用变性高效液相色谱法（DHPLC）对DNA样本进行rs483352909和rs39751463等位基因变异筛查。所有患者的基因rs483352909和基因rs397514632的等位基因变异均为阴性。在基因中发现了一个等位基因变异rs373243003，在基因中发现了一个位于内含子和外显子之间切除位点的四个核苷酸的新型重复（c.1384-5dupCCTA）。我们无法检测或证实这些基因的基因变异与结直肠癌患者之间的联系，但我们检测到了一个意义不明的新型基因变异。
