Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149005978
rs149005978
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0037369
Disease:
Smoking
0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
dbSNP: rs149005978
rs149005978
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C1519383
Disease:
Smoking Behaviors
0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
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
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
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
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
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
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
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
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
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
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0027651
Disease:
Neoplasms
0.070 GeneticVariation BEFREE Moreover, we show that KRAS(G12D)- and BRAF(V600E)-induced tumor formation in an orthotopic model requires IGF1R. 22871572 2012
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
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
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0027651
Disease:
Neoplasms
0.060 GeneticVariation BEFREE Similarly, in human HCC cell lines, silencing of SGK3 reduced PIK3CA(E545K) -but not PIK3CA(H1047R)- induced accelerated tumor cell proliferation. 30975125 2019
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0027651
Disease:
Neoplasms
0.060 GeneticVariation BEFREE Formalin-fixed paraffin-embedded tumour specimens from 118 HER2-overexpressing breast cancer patients treated with radical local therapy and trastuzumab in adjuvant setting were used for the assessment of: (1) PIK3CA gene mutations (p.H1047R and p.E545K) by qPCR, and (2) expression of Ki-67, EGFR, MUC4, HER3 and PTEN by immunohistochemistry. 28123607 2017
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0027651
Disease:
Neoplasms
0.060 GeneticVariation BEFREE The E545K mutation promoted proliferation, migration and invasion of GBC cells in vitro and tumor proliferation in vivo. 27317099 2016
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0027651
Disease:
Neoplasms
0.060 GeneticVariation BEFREE As a proof of the concept, we present the case of a metastatic patient with a PIK3CA wild-type primary tumor in which the PIK3CA E545K mutation was identified in both the circulating-free DNA obtained from a peripheral blood sample and in the formalin-fixed, paraffin-embedded liver metastasis. 26001593 2015
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0027651
Disease:
Neoplasms
0.060 GeneticVariation BEFREE Moreover, PIK3CA hotspot mutations (c.1624G>A [p.Glu542Lys] and c.1633G>A [p.Glu545Lys]) were enriched in APOBEC-signature tumors, and no smoking-associated signature was observed in ESCC. 25839328 2015
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0027651
Disease:
Neoplasms
0.060 GeneticVariation BEFREE PIK3CA mutations were detected in 25% of tumors and 26% of cell lines with a significant excess of helical domain mutations (E542K and E545K). 19789314 2009
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE Formalin-fixed paraffin-embedded tumour specimens from 118 HER2-overexpressing breast cancer patients treated with radical local therapy and trastuzumab in adjuvant setting were used for the assessment of: (1) PIK3CA gene mutations (p.H1047R and p.E545K) by qPCR, and (2) expression of Ki-67, EGFR, MUC4, HER3 and PTEN by immunohistochemistry. 28123607 2017
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE Using a variety of physiologically relevant model systems with defined natural or knock-in PIK3CA mutations and/or PI3K hyperactivation, we show that PIK3CA-E545K mutations (found in ∼20% of PIK3CA-mutant breast cancers), but not PIK3CA-H1047R mutations (found in 55% of PIK3CA-mutant breast cancers), preferentially activate AKT1. 27197157 2016
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE We further validated the approach in breast cancer cells with mutational activation of PIK3CA, where tandem mass spectrometry detected and quantitatively measured the abundance of a helical domain mutant (E545K) of PIK3CA connected to PI3K activation. 21775521 2011
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C2239176
Disease:
Liver carcinoma
0.020 GeneticVariation BEFREE Similarly, in human HCC cell lines, silencing of SGK3 reduced PIK3CA(E545K</span>) -but not PIK3CA(H1047R)- induced accelerated tumor cell proliferation. 30975125 2019
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Formalin-fixed paraffin-embedded tumour specimens from 118 HER2-overexpressing breast cancer patients treated with radical local therapy and trastuzumab in adjuvant setting were used for the assessment of: (1) PIK3CA gene mutations (p.H1047R and p.E545K) by qPCR, and (2) expression of Ki-67, EGFR, MUC4, HER3 and PTEN by immunohistochemistry. 28123607 2017
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
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
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C2939419
Disease:
Secondary Neoplasm
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
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0235782
Disease:
Gallbladder Carcinoma
0.020 GeneticVariation BEFREE The E545K mutation promoted GBC progression through enhanced binding to EGFR and activating downstream akt activity. 27317099 2016
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0235782
Disease:
Gallbladder Carcinoma
0.020 GeneticVariation BEFREE Mutations in exons 9 (E542K, E545G, E545K) and 20 (H1047L and H1047R) of PI3K were determined by direct sequencing in 130 cases of GBC. 26947513 2016
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
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