BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
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
0.800 AlteredExpression disease BEFREE Hsa_circ_0046264 and BRCA2 were down-regulated in lung cancer tissues while miR-1245 was up-regulated. 29891014 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.800 GeneticVariation disease BEFREE The variants in TP53, BRCA1, and BRCA2 are likely to have contributed to the early onset lung cancer in the respective patients (3/21 or 14%). 30032850 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.800 AlteredExpression disease BEFREE Thus, this study identifies the importance of TDP1 as a novel determinant of response to CNDAC across various cancer types (especially non-small cell lung cancers), and demonstrates the differential involvement of BRCA2, PARP1, and TDP1 in the cellular responses to CNDAC, AraC, and CPT.<i></i>. 28802254 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.800 GeneticVariation 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
0.800 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
0.800 GeneticVariation disease BEFREE Although BRCA2 is important in DNA repair, few data are available on the association between BRCA2 polymorphisms and lung cancer in women. 26979245 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.800 GeneticVariation disease BEFREE We did not identify increased frequencies of oesophageal, pancreatic or lung cancer in families with just BRCA2 c.9976A>T using person-years at risk analysis. 26041759 2015
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.800 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
0.800 Biomarker disease BEFREE Importantly, perturbation of the ATR-RASSF1A-LATS1 signalling axis leads to genomic defects associated with loss of BRCA2 function and contributes to genomic instability and 'BRCA-ness' in lung cancers. 25218637 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.800 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
0.800 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
0.800 Biomarker disease BEFREE Antisense-mediated reduction of IDO, alone and (in a synthetic lethal approach) in combination with antisense to the DNA repair protein BRCA2 sensitizes human lung cancer cells to olaparib and cisplatin. 24784564 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.800 GeneticVariation disease BEFREE Our results show that LUDLU-1 lacks the mutational signature that has been previously associated with tobacco exposure in other lung cancer subtypes, and suggests that DNA-repair efficiency is adversely affected; LUDLU-1 contains somatic mutations in TP53 and BRCA2, allelic imbalance in the expression of two cancer-associated BRCA1 germline polymorphisms and reduced transcription of a potentially endogenous PARP2 inhibitor. 24244370 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.800 AlteredExpression disease BEFREE Anchorage-dependent growth after reexpression of these genes was examined in a lung cancer cell line that originally lacked BRCA1 and BRCA2 expression. 17289874 2007
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.800 GeneticVariation disease UNIPROT
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.800 GenomicAlterations disease CGI
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.800 CausalMutation disease CGI