CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.500 Biomarker disease BEFREE We selected eight genes, ATM serine/threonine kinase gene (ATM), BRCA2, DNA repair associated gene (BRCA2), checkpoint kinase 2 gene (CHEK2), EGFR, parkin RBR E3 ubiquitin protein ligase gene (PARK2), telomerase reverse transcriptase gene (TERT), tumor protein p53 gene (TP53), and Yes associated protein 1 gene (YAP1), on the basis of prior anecdotal association with lung cancer or genome-wide association studies. 28843361 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.500 GeneticVariation disease BEFREE Previous studies have shown that two rare variants, rs11571833 in BRCA2 and rs17879961 in CHEK2 were associated with lung cancer. 27632928 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.500 GeneticVariation disease BEFREE We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 rs17879961" genes_norm="11200;8626">p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)). 24880342 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.500 Biomarker disease CTD_human We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)). 24880342 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.500 GeneticVariation disease GWASDB We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)). 24880342 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.500 GeneticVariation disease BEFREE Several other genetic regions including variants of CHEK2 (22q12), TP53BP1 (15q15) and RAD52 (12p13) have been demonstrated to influence lung cancer risk in candidate- or pathway-based analyses. 22899653 2012
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.500 GeneticVariation disease BEFREE We found that CHEK2 rs2236141 -48 G > A was significantly associated with lung cancer risk (P = 0.0018). 20462940 2010
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.500 GeneticVariation disease BEFREE For instance, a greater absolute risk reduction of lung and upper aerodigestive cancers in smokers than in non-smokers carrying the I157T CHEK2 variant has been observed, as has an interaction between TP53 intron 3 16-bp repeats and multiple X-ray exposures on lung cancer risk. 19442246 2009
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.500 GeneticVariation disease BEFREE The basis of the protective effect is unknown, but may relate to the reduced viability of lung cancer cells with a CHEK2 mutation. 18281249 2008
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.500 Biomarker disease BEFREE Based on the estimation from the hierarchical modeling, subjects who carried OGG1 326C/326C homozygotes, MGMT 143V or 178R, and CHEK2 157I had an odds ratio of lung cancer equal to 1.45 [95% confidence interval (95% CI), 1.05-2.00], 1.18 (95% CI, 1.01-1.40), and 1.58 (95% CI, 1.14-2.17). 18086781 2007
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.500 AlteredExpression disease BEFREE We reported that the CHK2 expression is diminished or absent in both non-small cell lung cancer (NSCLC) cell lines and clinical lung cancer tumor specimens. 15125777 2004
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.500 AlteredExpression disease BEFREE These findings confirm that the DNA damage checkpoint pathway involving CHK2 is indeed inactivated in this fatal adult cancer and also suggest that reduced expression of Chk2 may also be an important inactivating mechanism, contributing to the development of lung cancer. 11454675 2001
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.500 GeneticVariation disease BEFREE We found that the CHK2 gene was somatically mutated in lung cancer in vivo, although at a low frequency, and that a previously undescribed shorter isoform of CHK1 was expressed preferentially in small cell lung cancer in a tumor-predominant manner. 10987268 2000