Molecular mechanisms and differences in lynch syndrome developing into colorectal cancer and endometrial cancer based on gene expression, methylation, and mutation analysis.
Molecular mechanisms and differences in lynch syndrome developing into colorectal cancer and endometrial cancer based on gene expression, methylation, and mutation analysis.
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DOI：
10.1007/s10552-021-01543-w
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发表时间：
2022-04
期刊：
影响因子：
--
通讯作者：
Liu P
中科院分区：
文献类型：
--
作者：
Li H;Sun L;Zhuang Y;Tian C;Yan F;Zhang Z;Hu Y;Liu P
本研究的目的是筛选Lynch综合征(LS)合并结直肠癌(CRC)和子宫内膜癌(EC)的特异性生物标志物，以探讨LS发展为CRC和EC的机制及其差异。在10例结直肠癌、50例结直肠癌和50例食管癌患者中发现差异表达或差异甲基化基因和差异突变，并发现LS与结直肠癌或食管癌之间存在重叠的基因(分别命名为SGS-LCS和SGS-LES)。然后，我们对丰富的GO术语和途径进行了注释，并构建了蛋白质-蛋白质相互作用(PPI)网络。最后，收集10例MSI-H/MSS结直肠癌和EC的临床标本，验证SGS-LCS和SGS-LES中5个LS致病基因的突变及其相关性。共鉴定出494个SGS-LCS和104个SGS-LE，并分别在106和14个GO项中进行了富集。SGS-LCS和SGS-LES在基因数量和富集项上存在较大差异。在PPI网络中，SST、GCG、SNAP25和NPY在SGS-LCS中的关联度最高，KIF20A和NUF2在SGS-LE中的关联度最高。在SGS-LCS和SGS-LES中，影响LS、CRC或EC患者生存的基因表达水平差异很大。发现COL11A1在MSS结直肠癌患者中发生突变，与MSH6突变相似。SST、GCG、SNAP25和NPY可能是LS向结直肠癌发展的生物标志物，KIF20A和NUF2可能是LS向EC发展的标志物。网上版载有补充材料，可在10.1007/s10552-021-01543-w查阅。
The aim of this study was to screen biomarkers specific to Lynch syndrome (LS) with colorectal cancer (CRC) or endometrial cancer (EC) to explore the mechanisms by which LS develops into CRC and EC and their differences. Differentially expressed or differentially methylated genes and differential mutations were identified in 10 LS, 50 CRC, and 50 EC patients from TCGA, and genes overlapping between LS and CRC or EC (named SGs-LCs and SGs-LEs, respectively) were identified. Afterward, we annotated the enriched GO terms and pathways and constructed a protein–protein interaction (PPI) network. Finally, samples from 10 clinical cases with MSI-H/MSS CRC and EC were collected to verify the mutations and their correlations with five LS pathogenic genes in the SGs-LCs and SGs-LEs. A total of 494 SGs-LCs and 104 SGs-LEs were identified and enriched in 106 and 14 GO terms, respectively. There were great differences in the gene count and enriched terms between SGs-LCs and SGs-LEs. In the PPI network, SST, GCG, SNAP25, and NPY had the highest degree of connection among the SGs-LCs, and KIF20A and NUF2 had the highest degree of connection among the SGs-LE. In the SGs-LCs and SGs-LEs, the genes whose expression levels affected the survival of LS, CRC or EC patients were quite different. COL11A1 was found to be mutated in MSS CRC patients, similar to the mutations of MSH6. SST, GCG, SNAP25, and NPY may be biomarkers for the development of LS into CRC, and KIF20A and NUF2 may be markers of LS developing into EC. The online version contains supplementary material available at 10.1007/s10552-021-01543-w.
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