结直肠癌淋巴结转移相关基因标志物的筛选

doi:10.3969/j.issn.1004-616x.2015.05.002

Abstract

Abstract:

OBJECTIVE: Try to identify single nucleotide polymorphism (SNPs), copy number variation (CNVs) and mRNA expression from the genetic or tumor markers that are associated with lymph node metastases in colorectal cancer. METHODS:Targeted next-generation sequencing(Illumina Hiseq) was applied to capture SNPs and CNVs in tumor-related candidate genes of tumor tissues and paired normal tissues adjacent to the tumors from 25 colorectal cancer specimens;real time-PCR was used to detect specific mRNA expression of tumor-related candidate genes (VEGFC、CCNA2、IL2、ABCG2、EGF and NFKB1) on chromosome 4 of 39 colorectal cancer patient specimens. RESULTS: The SNPs in SLC28A3, BRCA1, RRM2, PMS2, CDA, EPHX1, RALY, CD33, BCL10, ETV1, MST1R, KMT2B, BCL2, LSM3, TTF1, MAP3K1 genes were significantly correlated with lymphatic metastasis risk (P<0.05). There were no significant differences of the CNVs in the DDR1, CYP21A2, SULT1A1, XRCC2, POU5F1, FLT1 genes between the positive lymph node metastasis group and the negative lymph node metastasis group(P>0.05). Compared with non lymph node metastasis group, mRNA expressions of EGF and NFKB1 were both down-regulated in the lymph node metastasis group, and the difference was statistically significant(P<0.05). CONCLUSION:SNPs in SLC28A3, BRCA1, RRM2, PMS2, CDA, EPHX1, RALY, CD33, BCL10, ETV1, MST1R, KMT2B, BCL2, LSM3, TTF1, MAP3K1 genes and down-regulated expression of EGF and NFKB1 might be the potential genetic markers in lymph node metastasis of colorectal cancers. No CNV was found to be associated with lymph node metastasis in colorectal cancer in our study.

Key words: single nucleotide polymorphism, copy number variation, mRNA expression, colorectal cancer, lymph node metastasis

CLC Number:

R735.3

YAO Yujiang, XIE Ni, LIU Litao, LI Zhonghang, WAN Lili, ZHU Ting. Screening of genetic markers associated with lymph node metastasis in colorectal cancer[J]. Carcinogenesis, Teratogenesis & Mutagenesis, 2015, 27(5): 332-340,346.

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Screening of genetic markers associated with lymph node metastasis in colorectal cancer

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