rs762846821, TP53

N. diseases: 56
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rhabdomyosarcoma
CUI: C0035412
Disease: Rhabdomyosarcoma
0.010 GeneticVariation BEFREE First, to compare YAP1 S127A and KRAS G12V-driven rhabdomyosarcomas, we re-analysed gene expression microarray datasets from mouse rhabdomyosarcomas caused by these genes. 30353028 2018
Childhood Embryonal Rhabdomyosarcoma
0.010 GeneticVariation BEFREE Analysis of the relationship between the KRAS G12V oncogene and the Hippo effector YAP1 in embryonal rhabdomyosarcoma. 30353028 2018
Embryonal Rhabdomyosarcoma
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
0.010 GeneticVariation BEFREE Analysis of the relationship between the KRAS G12V oncogene and the Hippo effector YAP1 in embryonal rhabdomyosarcoma. 30353028 2018
Tumour budding
CUI: C4049272
Disease: Tumour budding
0.010 GeneticVariation BEFREE Our results showed that 21 of 34 tumors with high-grade TB had KRAS mutations (P=.001) and KRAS G12D and PIK3CA exon 9 variants were significantly associated with high-grade TB (P=.002 and .006, respectively); furthermore, tumors with KRAS mutations in exons 3 and 4 tended to have lymphovascular tumor emboli and perineural invasion (P=.044 and .049, respectively). 28188750 2017
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.010 GeneticVariation BEFREE Our results showed that 21 of 34 tumors with high-grade TB had KRAS mutations (P=.001) and KRAS G12D and PIK3CA exon 9 variants were significantly associated with high-grade TB (P=.002 and .006, respectively); furthermore, tumors with KRAS mutations in exons 3 and 4 tended to have lymphovascular tumor emboli and perineural invasion (P=.044 and .049, respectively). 28188750 2017
Carcinoma, Signet Ring Cell
CUI: C0206696
Disease: Carcinoma, Signet Ring Cell
0.010 GeneticVariation BEFREE The DNA sequencing of the 2 microdissected neoplastic components (adenomatous and SRCC) showed the same G12V KRAS mutation. 26997454 2016
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
0.010 GeneticVariation BEFREE MAPK pathway hyperactivation (through Braf(V600E) or Kras(G12D) knockin) and TGFβ signalling ablation (through Tgfbr1 deletion) in LGR5(+ve) stem cells enables rapid cSCC development in the mouse. 27558455 2016
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.010 GeneticVariation BEFREE We also studied genetically induced SCCs that expressed G12D mutant Kras (Kras G12D) but were deficient for p53. 26168291 2015
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
0.010 GeneticVariation BEFREE One case had a KRAS G12V (c.35G>T) mutation in both the primary gastric tumor and a post-imatinib recurrence. 25427437 2015
Carcinoma, Spindle-Cell
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
0.010 GeneticVariation BEFREE Combining p53(R273H) with KRAS(G12V) activation caused transformation of MOE into high-grade sarcomatoid carcinoma when xenografted into nude mice. 25810107 2015
Pancreatic Ductal Adenocarcinoma
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
0.010 GeneticVariation BEFREE PTEN loss leads to acceleration of Kras(G12D)-driven pancreatic ductal adenocarcinoma (PDAC) in mice and these tumours have high levels of mammalian target of rapamycin (mTOR) signalling. 24717934 2014
Hurthle Cell Tumor
CUI: C0949541
Disease: Hurthle Cell Tumor
0.010 GeneticVariation BEFREE Using genetically engineered mouse models (GEMMs) for human non-small-cell lung cancer (NSCLC), we found that deletion of the essential autophagy gene, Atg7, in KRAS(G12D)-driven NSCLC inhibits tumor growth and converts adenomas and adenocarcinomas to benign oncocytomas characterized by the accumulation of respiration-defective mitochondria. 23959381 2013
Malignant transformation
CUI: C1608408
Disease: Malignant transformation
0.010 GeneticVariation BEFREE Taken together, Kras(G12D) - driven PanIN showed the tumorigenic ability, however, did not undergo a malignant transformation, and decreased expression of PPP2R2A in PDACs may provided a new target for pancreatic carcinoma intervention. 23887057 2013
Secondary malignant neoplasm of lung
0.010 GeneticVariation BEFREE We show that loss of HIF-1α or PLOD2 expression disrupts collagen modification, cell migration, and pulmonary metastasis (but not primary tumor growth) in allograft and autochthonous LSL-Kras(G12D/+); Trp53(fl/fl) murine sarcoma models. 23906982 2013
ADENOMAS AND ADENOCARCINOMAS
CUI: C1535510
Disease: ADENOMAS AND ADENOCARCINOMAS
0.010 GeneticVariation BEFREE Using genetically engineered mouse models (GEMMs) for human non-small-cell lung cancer (NSCLC), we found that deletion of the essential autophagy gene, Atg7, in KRAS(G12D)-driven NSCLC inhibits tumor growth and converts adenomas and adenocarcinomas to benign oncocytomas characterized by the accumulation of respiration-defective mitochondria. 23959381 2013
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.010 GeneticVariation BEFREE Further, in order to investigate whether IL-6 deletion contributes to suppression of lung cancer metastasis, we generated Kras(G12D); p53(flox/flox); IL-6(-/-) mice, which developed lung cancer with a trend for reduced metastases and longer survival than Kras(G12D); p53(flox/flox) mice. 24260500 2013
Primary cholangiocarcinoma of intrahepatic biliary tract
0.010 GeneticVariation BEFREE Tissue-specific activation of Kras(G12D) alone resulted in the development of invasive IHCC with low penetrance and long latency. 22266220 2012
Malignant neoplasm of soft tissue
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
0.010 GeneticVariation BEFREE In addition, using FSF-Kras(G12D/+); p53(FRT/FRT) mice, we demonstrate that an adenovirus expressing FlpO recombinase can initiate primary lung cancers and sarcomas in mice. p53(FRT) mice will enable dual recombinase technology to study cancer biology because Cre is available to modify genes specifically in stromal cells to investigate their role in tumor development, progression and response to therapy. 22228755 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.010 GeneticVariation BEFREE In addition, using FSF-Kras(G12D/+); p53(FRT/FRT) mice, we demonstrate that an adenovirus expressing FlpO recombinase can initiate primary lung cancers and sarcomas in mice. p53(FRT) mice will enable dual recombinase technology to study cancer biology because Cre is available to modify genes specifically in stromal cells to investigate their role in tumor development, progression and response to therapy. 22228755 2012
Intrahepatic Cholangiocarcinoma
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
0.010 GeneticVariation BEFREE Tissue-specific activation of Kras(G12D) alone resulted in the development of invasive IHCC with low penetrance and long latency. 22266220 2012
PATENT DUCTUS ARTERIOSUS 1
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
0.010 GeneticVariation BEFREE The concomitant expression of oncogenic Kras(G12D) and mutant p53 (Trp53(R172H)) in the murine pancreas results in metastatic PDA that recapitulates the cognate features of human pancreatic cancer providing an excellent animal model to identify genes required for tumor progression. 22158044 2012
Benign Neoplasm
CUI: C0086692
Disease: Benign Neoplasm
0.010 GeneticVariation BEFREE Whereas the successive expression of Ras(G12V) and p53(DD) led to highly malignant tumors with metastatic behavior, reminiscent of those formed after the simultaneous introduction of p53(DD) and Ras(G12V), the reverse sequence gave rise only to benign tumors. 22589739 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.010 GeneticVariation BEFREE In addition, using FSF-Kras(G12D/+); p53(FRT/FRT) mice, we demonstrate that an adenovirus expressing FlpO recombinase can initiate primary lung cancers and sarcomas in mice. p53(FRT) mice will enable dual recombinase technology to study cancer biology because Cre is available to modify genes specifically in stromal cells to investigate their role in tumor development, progression and response to therapy. 22228755 2012
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
0.010 GeneticVariation BEFREE The concomitant expression of oncogenic Kras(G12D) and mutant p53 (Trp53(R172H)) in the murine pancreas results in metastatic PDA that recapitulates the cognate features of human pancreatic cancer providing an excellent animal model to identify genes required for tumor progression. 22158044 2012
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
0.010 GeneticVariation BEFREE We developed two mouse models of esophageal cancer by inoculating immunocompetent mice with syngeneic esophageal cell lines transformed by cyclin-D1 or mutant HRAS(G12V) and loss of p53. 21869822 2011