Japanese genome‐wide association study identifies a significant colorectal cancer susceptibility locus at chromosome 10p14

Takahashi, Yusuke; Sugimachi, Keizō; Yamamoto, Ken; Niida, Atsushi; Shimamura, Teppei; Sato, Tetsuya; Watanabe, Masahiko; Tanaka, Junichi; Kudo, Shin‐ei; Sugihara, Kenichi; Hase, Kazuo; Kusunoki, Masato; Yamada, Kazutaka; Shimada, Yasuhiro; Moriya, Yoshihiro; Suzuki, Yutaka; Miyano, Satoru; Mori, Masaki; Mimori, Koshi

doi:10.1111/cas.13391

Cited by 10 publications

(8 citation statements)

References 37 publications

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“…The striking disparity in the global incidence of CRC reflects the strong impact of lifestyle factors on the occurrence of this cancer (4). Moreover, variations in genetic background between different populations, such as single nucleotide polymorphisms in certain genes, have been hypothesized to be associated with CRC genesis (5–7). CRC incidence and mortality rates have been stabilizing or decreasing in highly developed countries through the enormous efforts over the last decades (8).…”

Section: Introductionmentioning

confidence: 99%

Trends in and Predictions of Colorectal Cancer Incidence and Mortality in China From 1990 to 2025

et al. 2019

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Colorectal cancer (CRC) has emerged as a major public health concern in China during the last decade. In this study, we investigated the disease burden posed by CRC and analyzed temporal trends in CRC incidence and mortality rates in this country. We collected CRC incidence data from the Cancer Incidence in Five Continents, Volume XI dataset and the age-standardized incidence rate (ASIR) and age-standardized mortality rate (ASMR) of CRC by sex and age, from the 2016 Global Burden of Diseases Study. We used the average annual percentage change (AAPC) to quantify temporal trends in CRC incidence and mortality from 1990 to 2016 and found the ASIR of CRC increased from 14.25 per 100,000 in 1990 to 25.27 per 100,000 in 2016 (AAPC = 2.34, 95% confidence interval [CI] 2.29, 2.39). Cancer cases increased from 104.3 thousand to 392.8 thousand during the same period. The ASIR increased by 2.76% (95% CI 2.66%, 2.85%) and 1.70% (95% CI 1.64%, 1.76%) per year in males and females, respectively. The highest AAPC was found in people aged 15–49 years (2.76, 95% CI 2.59, 2.94). Cancer deaths increased from 81.1 thousand in 1990 to 167.1 thousand in 2016, while the ASMR remained stable (−0.04, 95% CI −0.13, 0.05), A mild increase (AAPC = 0.42, 95% CI 0.34, 0.51) was found among males and a significant decrease (AAPC = −0.75, 95% CI −0.90, −0.60) was found among females. Between 2016 and 2025, cancer cases and deaths are expected to increase from 392.8 and 167.1 thousand in 2016 to 642.3 (95% CI 498.4, 732.1) and 221.1 thousand (95% CI 122.5, 314.8) in 2025, respectively. Our study showed a steady increase in the CRC incidence in China over the past three decades and predicted a further increase in the near future. To combat this health concern, the prevention and management of known risk factors should be promoted through national polices. Greater priority should be given to CRC prevention in younger adults, and CRC screening should be widely adopted for this population.

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Section: Introductionmentioning

confidence: 99%

Trends in and Predictions of Colorectal Cancer Incidence and Mortality in China From 1990 to 2025

et al. 2019

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“…Colorectal cancer (CRC) is a leading cause of tumor‐associated morbidity and mortality worldwide, and its incidence continues to rise . Despite recent advances in therapeutic approaches, including chemotherapy and molecular targeted therapy, relapse is frequently found among patients with CRC, particularly for those with advanced disease …”

Section: Introductionmentioning

confidence: 99%

GTF2IRD1 on chromosome 7 is a novel oncogene regulating the tumor‐suppressor gene TGFβR2 in colorectal cancer

et al. 2019

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Chromosome 7q (Ch.7q) is clonally amplified in colorectal cancer (CRC). We aimed to identify oncogenes on Ch.7q that are overexpressed through DNA copy number amplification and determine the biological and clinical significance of these oncogenes in CRC. We identified general transcription factor 2I repeat domain-containing protein 1 (GTF2IRD1) as a potential oncogene using a CRC dataset from The Cancer Genome Atlas with a bioinformatics approach. We measured the expression of GTF2IRD1 in 98 patients with CRC using immunohistochemistry and RT-quantitative PCR (RT-qPCR). The biological effects of GTF2IRD1 expression were explored by gene set enrichment analysis (GSEA). Next, we undertook in vitro cell proliferation and cell cycle assays using siGTF2IRD1-transfected CRC cells. We further investigated the oncogenic mechanisms through which GTF2IRD1 promoted CRC progression. Finally, we assessed the clinical significance of GTF2IRD1 expression by RT-qPCR. GTF2IRD1 was overexpressed in tumor cells and liver metastatic lesions. The GSEA revealed a positive correlation between GTF2IRD1 expression and cell cycle progression-related genes. GTF2IRD1 knockdown inhibited cell proliferation and induced cell cycle arrest in Smad4-mutated CRC. GTF2IRD1 downregulated the expression of the gene encoding transforming growth factor β receptor 2 (TGFβR2), a tumor-suppressor gene in Smad4-mutated CRC. On multivariate analysis, high GTF2IRD1 expression was an independent poor prognostic factor. Clinicopathological analysis showed that GTF2IRD1 expression was positively correlated with liver metastasis. In conclusion, GTF2IRD1 promoted CRC progression by downregulating TGFβR2 and could be a prognostic biomarker on Ch.7q in CRC. GTF2IRD1 could also be a novel oncogene in CRC. K E Y W O R D Scell cycle, colorectal cancer, GTF2IRD1, oncogene, TGFβR2

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“…The genetic component of CRC is widely studied. According to publications, chromosome 10 is a carrier of polymorphisms associated with CRC [ 11 , 12 ].…”

Section: Discussionmentioning

confidence: 99%

Association of four genetic variants with colorectal cancer in Kazakhstan population

et al. 2021

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The study was conducted to search for polymorphisms located in the 10th chromosome associated with colorectal adenocarcinoma in representatives of the Kazakhstan population. Study was performed with 282 colorectal cancer (CRC) patients and 159 controls. Genotyping of SNPs was performed by QuantStudio 12K Flex PCR. For four significant SNPs inheritance model analysis was performed. Increasing risk of CRC was noted for rs10795668 in log-additive model (OR = 1.45, 95% CI: 1.05-1.99, p = 0.023); for rs1035209 in log-additive model (OR = 1.79, 95% CI: 1.18-2.72, p = 0.003); for rs11190164 in log-additive model (OR = 1.67, 95% CI: 1.17-2.38, p = 0.004). Decreasing risk of CRC was noted for rs10506868 in logadditive model (OR = 0.56, 95% CI: 0.37-0.85, p = 0.006). We detected SNPs that are associated with CRC risk in the Kazakhstan population.

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Japanese genome‐wide association study identifies a significant colorectal cancer susceptibility locus at chromosome 10p14

Cited by 10 publications

References 37 publications

Trends in and Predictions of Colorectal Cancer Incidence and Mortality in China From 1990 to 2025

Trends in and Predictions of Colorectal Cancer Incidence and Mortality in China From 1990 to 2025

GTF2IRD1 on chromosome 7 is a novel oncogene regulating the tumor‐suppressor gene TGFβR2 in colorectal cancer

Association of four genetic variants with colorectal cancer in Kazakhstan population

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