Cumulative effects of genetic markers and the detection of advanced colorectal neoplasias by population screening

Kurlapska, Agnieszka; Serrano-Fernández, Pablo; Baszuk, Piotr; Gupta, Satish; Starzyńska, Teresa; Małecka‐Panas, Ewa; Dâbrowski, A; Dębniak, Tadeusz; Kurzawski, Grzegorz; Suchy, Janina; Rogoza-Mateja, Wiesława; Scott, Rodney J.; Lubiński, Jan

doi:10.1111/cge.12481

Cited by 5 publications

(6 citation statements)

References 33 publications

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“…In recent years, PRSs, alone or in combination with ERSs, are increasingly propagated for risk stratification in CRC screening. However, the scores used so far have generally yielded limited ability to distinguish between individuals with and without CRC and its precursors [10][11][12][13] . Jeon et al 11 developed a model including family history, 19 lifestyle and environmental factors, and 63 CRC-associated SNPs identified in genome-wide association studies, which predicted CRC risk with an AUC of 0.63 for men and 0.62 for women.…”

Section: Discussionmentioning

confidence: 99%

“…Risk models based on genetic susceptibility loci, alone or in combination with environmental risk factors have been increasingly propagated for risk stratification in CRC screening. However, the models used so far have generally yielded limited ability to distinguish between individuals with and without CRC and its precursors [10][11][12][13] . In recent years, blood levels of microRNAs (miRNAs) have been linked to CRC development 14,15 .…”

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confidence: 99%

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A microRNA panel compared to environmental and polygenic scores for colorectal cancer risk prediction

et al. 2021

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Circulating microRNAs (miRNAs) could improve colorectal cancer (CRC) risk prediction. Here, we derive a blood-based miRNA panel and evaluate its ability to predict CRC occurrence in a population-based cohort of adults aged 50–75 years. Forty-one miRNAs are preselected from independent studies and measured by quantitative-real-time-polymerase-chain-reaction in serum collected at baseline of 198 participants who develop CRC during 14 years of follow-up and 178 randomly selected controls. A 7-miRNA score is derived by logistic regression. Its predictive ability, quantified by the optimism-corrected area-under-the-receiver-operating-characteristic-curve (AUC) using .632+ bootstrap is 0.794. Predictive ability is compared to that of an environmental risk score (ERS) based on known risk factors and a polygenic risk score (PRS) based on 140 previously identified single-nucleotide-polymorphisms. In participants with all scores available, optimism-corrected-AUC is 0.802 for the 7-miRNA score, while AUC (95% CI) is 0.557 (0.498–0.616) for the ERS and 0.622 (0.564–0.681) for the PRS.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

A microRNA panel compared to environmental and polygenic scores for colorectal cancer risk prediction

et al. 2021

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“…Though the functional role of the SMAD7 polymorphisms (rs4464148, rs4939827, and rs12953717) has not yet been interpreted, a number of published epidemiological studies have reported that these polymorphisms are correlated with the risk of developing multiple cancers [ 12 , 28 , 29 ]. However, other studies have reported that these polymorphisms are not associated with cancer development [ 17 – 20 ].…”

Section: Discussionmentioning

confidence: 99%

“…In a number of other studies these SMAD7 polymorphisms have been associated with the risk of developing multiple cancers, including CRC [ 12 – 14 ], renal [ 15 ], and liver cancer [ 16 ]. However, other case-control studies have reported that these polymorphisms are not associated with cancer risk, in CRC [ 17 – 19 ], breast cancer [ 20 ], and lymphocytic leukemia [ 21 ]. These inconsistencies may be partially due to the relatively small sample sizes in each of these studies.…”

Section: Introductionmentioning

confidence: 99%

SMAD7 polymorphisms and colorectal cancer risk: a meta-analysis of case-control studies

Huang

Nie

et al. 2016

Oncotarget

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Mothers against decapentaplegic homolog 7 (SMAD7) inhibits the transforming growth factor-β (TGF-β) signaling pathway, which regulates carcinogenesis and cancer progression. A number of studies have reported that SMAD7 polymorphisms (rs4464148, rs4939827, and rs12953717) are associated with colorectal cancer (CRC) risk, but the results from these studies remain conflicting. To determine a more precise estimation of the relationship between SMAD7 and CRC, we undertook a large-scale meta-analysis of 63 studies, which included a total of 187,181 subjects (86,585 cases and 100,596 controls). The results of our meta-analysis revealed that the C allele of rs4464148 [CC vs. TT+TC, odds ratio (OR) =1.23, 95% confidence interval (CI): 1.14–1.33, P < 0.01], the T allele of rs4939827 [TT vs. CC+TC, odds ratio OR=1.15, 95%CI:1.07–1.22, P < 0.01] and the T allele of rs12953717 [TT vs. CC+TC, OR =1.22, 95%CI:1.16–1.29, P < 0.01] were all associated with the increased CRC risk. Subgroup analysis according to ethnicity showed rs4464148 and rs12953717 were associated with the risk of CRC in both Caucasians and Asians, whereas rs4939827 was a risk polymorphism for CRC specifically in Caucasians. In summary, this large-scale meta-analysis indicated that SMAD7 polymorphisms (rs4464148, rs4939827, and rs12953717) correlate with CRC.

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“…166 articles were excluded because they clearly did not meet the criteria or were overlapping references (Supplementary Figure 1). A total of 22 eligible studies Jaeger et al 2008;Middeldorp et al 2009;Kupfer et al 2010;Kurlapska et al 2014;von Holst et al 2010;Xiong et al 2010;He et al 2011;Ho et al 2011;Talseth-Palmer et al 2011;Tomlinson et al 2011;Peters et al 2012;Zhang et al 2012;Thean et al 2012;Carvajal-Carmona et al 2013;Talseth-Palmer et al 2013;Wang et al 2013;Hes et al 2014;Hong et al 2014;Yang et al 2014;Zhang et al 2014) were included in the meta-analysis involving 52,657 cases and 85,105 controls. The detailed characteristics of the studies included in this meta-analysis are shown in Table 1.…”

Section: Characteristics Of Studiesmentioning

confidence: 99%

Common genetic variants (rs4779584 and rs10318) at 15q13.3 contributes to colorectal adenoma and colorectal cancer susceptibility: evidence based on 22 studies

Yan

Peng

2014

Mol Genet Genomics

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Several genome-wide association studies on colorectal cancer (CRC) have reported similar findings of a new susceptibility locus, 15q13.3. After that, a number of studies have reported that the rs4779584 and rs10318 polymorphisms at chromosome 15q13.3 have been implicated in CRC and colorectal adenoma (CRA) risk; however, these studies have yielded inconsistent results. To investigate this inconsistency, we performed a meta-analysis of 22 studies involving a total of 48,468 CRC cases, 4,189 CRA cases, and 85,105 controls for the two polymorphisms to evaluate its effect on genetic susceptibility for CRC/CRA. Potential sources of heterogeneity and publication bias were also systematically explored. Overall, the summary odds ratio (OR) of rs4779584-T variant for CRC was 1.13 (95 % CI 1.09-1.16, P < 10(-5)) and 1.15 (95 % CI 1.04-1.28, P = 0.006) for CRA. After stratified by ethnicity, significantly increased CRC risks were found for rs4779584 polymorphism among East Asians and Caucasians, while no significant associations were detected among African American and other ethnic populations. A meta-analysis of studies on the rs10318 polymorphism also showed significant overall association with CRC, yielding a per-allele OR of 1.13 (95 % CI 1.02-1.24, P = 0.02). In the subgroup analysis by ethnicity, significantly increased CRC risks were found in Caucasians; whereas no significant associations were found among East Asians and African Americans. This meta-analysis demonstrated that the rs4779584 and rs10318 polymorphism at 15q13.3 is a risk factor associated with increased CRC/CRA susceptibility, but these associations vary in different ethnic populations.

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Cumulative effects of genetic markers and the detection of advanced colorectal neoplasias by population screening

Cited by 5 publications

References 33 publications

A microRNA panel compared to environmental and polygenic scores for colorectal cancer risk prediction

A microRNA panel compared to environmental and polygenic scores for colorectal cancer risk prediction

SMAD7 polymorphisms and colorectal cancer risk: a meta-analysis of case-control studies

Common genetic variants (rs4779584 and rs10318) at 15q13.3 contributes to colorectal adenoma and colorectal cancer susceptibility: evidence based on 22 studies

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