rs752021744, PIK3CB

N. diseases: 29
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.010 GeneticVariation BEFREE Similar to H460 tumors, PD-0325901 as single agent or in combination with PF-04691502 significantly inhibited growth of tumor lesions in lungs in Kras(G12D-LSL) mice when treatment started at adenocarcinoma stage (at 14 weeks post-Adeno-Cre inhalation). 22684718 2012
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.010 GeneticVariation BEFREE Combination of a MEK inhibitor at sub-MTD with a PI3K/mTOR inhibitor significantly suppresses growth of lung adenocarcinoma tumors in Kras(G12D-LSL) mice. 22684718 2012
Anaplastic thyroid carcinoma
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
0.010 GeneticVariation BEFREE We have generated mouse models that develop ATC ([Pten, p53](thyr-/-) mice) and follicular thyroid cancer with areas of poor differentiation (Pten(thyr-/-),Kras(G12D) mice). 23509868 2013
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.020 GeneticVariation BEFREE Tumorigenesis was measured in the Kras(G12D/+);Ptf1a(Cre/+) mouse model of PDA; these mice were crossed with mice with pancreas-specific disruption of genes encoding PI3K p110α (Pik3ca), p110β (Pik3cb), or RAC1 (Rac1). 25311989 2014
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.020 GeneticVariation BEFREE Administration of a CXCL16-neutralizing antibody to KRAS(G12D) mice reduced activation of PI3K signaling to AKT and NF-κB, blocking carcinogenesis. 25683115 2015
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE In vivo activity of combined PI3K/mTOR and MEK inhibition in a Kras(G12D);Pten deletion mouse model of ovarian cancer. 21632463 2011
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.010 GeneticVariation BEFREE We examined the anti-proliferative effect of miR-143#12 and the mechanism in human colon cancer DLD-1 cell (G13D) and other cell types harboring K-Ras mutations. 29498789 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.010 GeneticVariation BEFREE Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival in BRAF wild-type CRCs in Chinese patients was not reported thus far. 25367198 2014
Disseminated Malignant Neoplasm
CUI: C0346957
Disease: Disseminated Malignant Neoplasm
0.010 GeneticVariation BEFREE GTPase-impairing somatic mutations in RAS genes, such as KRAS(G12D), are among the most common oncogenic events in metastatic cancer. 26549032 2016
Follicular thyroid carcinoma
CUI: C0206682
Disease: Follicular thyroid carcinoma
0.010 GeneticVariation BEFREE We have generated mouse models that develop ATC ([Pten, p53](thyr-/-) mice) and follicular thyroid cancer with areas of poor differentiation (Pten(thyr-/-),Kras(G12D) mice). 23509868 2013
Hypocholesterolemia
CUI: C0151718
Disease: Hypocholesterolemia
0.010 GeneticVariation BEFREE We show that chronic cholesterol depletion achieved with lipoprotein-deficient serum (LPDS) and 25-hydroxycholesterol (25-HC) treatment results in a significant increase in apoptosis in HT-29 and Colo-205 cells containing the (V600E)B-RAF mutation, but not in HCT-116 and LoVo cells harbouring the (G13D)Ras mutation, or BE cells, which possess two mutations, (G13D)Ras and (G463V)B-RAF. 19700418 2009
Leukemia, T-Cell
CUI: C0023492
Disease: Leukemia, T-Cell
0.010 GeneticVariation BEFREE To study the impact of oncogenic K-Ras on T-cell leukemia/lymphoma development and progression, we made use of a conditional K-Ras(G12D) murine knockin model, in which oncogenic K-Ras is expressed from its endogenous promoter. 18663146 2008
Lung Neoplasms
CUI: C0024121
Disease: Lung Neoplasms
0.010 GeneticVariation BEFREE In mice, Lkb1 deletion and activation of Kras(G12D) results in lung tumors with a high penetrance of lymph node and distant metastases. 20541700 2010
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.010 GeneticVariation BEFREE In vivo activity of combined PI3K/mTOR and MEK inhibition in a Kras(G12D);Pten deletion mouse model of ovarian cancer. 21632463 2011
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.020 GeneticVariation BEFREE Although mutations in known driver genes typically occurred early in cancer evolution, we also identified later subclonal "actionable" mutations, including BRAF (V600E), IDH1 (R132H), PIK3CA (E545K), EGFR (L858R), and KRAS (G12D), which may compromise the efficacy of targeted therapy approaches. 25877892 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.020 GeneticVariation BEFREE Moreover, all mice with Kras(G12D) activation and Pten homozygous deletion succumbed to cancer by 3 weeks of age. 20807812 2010
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
0.010 GeneticVariation BEFREE We examined the anti-proliferative effect of miR-143#12 and the mechanism in human colon cancer DLD-1 cell (G13D) and other cell types harboring K-Ras mutations. 29498789 2018
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.020 GeneticVariation BEFREE In mice, Lkb1 deletion and activation of Kras(G12D) results in lung tumors with a high penetrance of lymph node and distant metastases. 20541700 2010
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.020 GeneticVariation BEFREE GTPase-impairing somatic mutations in RAS genes, such as KRAS(G12D), are among the most common oncogenic events in metastatic cancer. 26549032 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.070 GeneticVariation BEFREE In LSL-K-ras(G12D/+)Pten(loxP/loxP) mice with established intraperitoneal tumor disease, oral administration of NVP-BEZ235 decreased pAkt, p4E-BP1 and Ki67 in tumor tissue, and resulted in significantly longer survival compared to control animals (P < 0.05). 21372221 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.070 GeneticVariation BEFREE Treatment of Kras(G12D) mice with either of two distinct small molecule Pak inhibitors (PF3758309 and FRAX597) caused tumor regression and loss of Erk and Akt activity. 22983922 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.070 GeneticVariation BEFREE Furthermore, isoform-selective inhibitors showed a similar pattern of the isoform dependence in established Kras(G12D)/PTEN-deficient tumors. 24737887 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.070 GeneticVariation BEFREE Finally, m-CT imaging in live Kras(G12D-LSL) mice showed reduction of tumor burdens in PD-0325901-treated animals at sub-MTD dose. 22684718 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.070 GeneticVariation BEFREE Most genes from this signature are also upregulated in poorly differentiated tumors developing in Pten(thyr-/-),Kras(G12D) mice. 23509868 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.070 GeneticVariation BEFREE We analyzed tumor growth in mice that expressed the oncogenic form of KRAS (KRAS(G12D)) in pancreatic precursor cells, as well as sst2+/- and sst2-/-, and in crossed KRAS(G12D);sst2+/- and KRAS(G12D);sst2-/- mice. 25683115 2015