Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE We have developed a Drosophila lung cancer model by targeting Ras1(G12V)--alone or in combination with PTEN knockdown--to the Drosophila tracheal system. 26832408 2016
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE We have developed a Drosophila lung cancer model by targeting Ras1(G12V)--alone or in combination with PTEN knockdown--to the Drosophila tracheal system. 26832408 2016
dbSNP: rs1226994105
rs1226994105
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Mutant p53-R273H mediates cancer cell survival and anoikis resistance through AKT-dependent suppression of BCL2-modifying factor (BMF). 26181206 2015
dbSNP: rs1226994105
rs1226994105
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE These findings open the possibility that blocking of PI3K/AKT will have therapeutic benefit in mutant p53-R273H expressing cancers. 26181206 2015
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0006118
Disease:
Brain Neoplasms
0.010 GeneticVariation BEFREE When expressed under the control of the krt5 gene promoter, KRAS(G12V) induced bra</span>in tumors in ventricular zones (VZ) at low frequency. 25644510 2015
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE It also suggests that RAL GTPase inhibition will be an important treatment strategy for tumors harboring RAS glycine to cysteine (G12C) or glycien to valine (G12V) mutations, which are commonly found in NSCLC and pancreatic cancer. 25557115 2015
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE We demonstrated that transient transgenic expression of KRAS(G12V) in putative neural stem and/or progenitor cells induced brain tumorigenesis. 25644510 2015
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0235974
Disease:
Pancreatic carcinoma
0.010 GeneticVariation BEFREE It also suggests that RAL GTPase inhibition will be an important treatment strategy for tumors harboring RAS glycine to cysteine (G12C) or glycien to valine (G12V) mutations, which are commonly found in NSCLC and pancreatic cancer. 25557115 2015
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0178874
Disease:
Tumor Progression
0.010 GeneticVariation BEFREE To determine which KRAS effectors were responsible for tumor progression, we created four effector domain mutants (S35, G37, E38 and C40) in G12V-activated KRAS and expressed these alone or with BrafV600E in mouse lungs... 24489653 2014
dbSNP: rs373644334
rs373644334
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE Rs45456595 (CDKN2A, Gly63Arg), rs5128 (APOC3, 3'UTR), and rs72650673 (SH2B3, Glu400Lys) were nominally associated with history of CVD, subclinical CVD, or CVD risk factors (p < 0.010). 24725463 2014
dbSNP: rs1226994105
rs1226994105
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0029463
Disease:
Osteosarcoma
0.010 GeneticVariation BEFREE Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]). 22006429 2012
dbSNP: rs1226994105
rs1226994105
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.010 GeneticVariation BEFREE Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]). 22006429 2012
dbSNP: rs1226994105
rs1226994105
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0585442
Disease:
Osteosarcoma of bone
0.010 GeneticVariation BEFREE Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]). 22006429 2012
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Patients whose tumors had either mutant KRas-Gly12Cys or mutant KRas-Gly12Val had worse progression-free survival compared with patients whose tumors had other mutant KRas proteins or wild-type KRas (P = .046, median survival = 1.84 months) compared with all other mutant KRas (median survival = 3.35 months) or wild-type KRas (median survival = 1.95 months). 22247021 2012
dbSNP: rs1412335442
rs1412335442
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0235974
Disease:
Pancreatic carcinoma
0.010 GeneticVariation BEFREE We observed that the IGF1 *10212C>A and Ex4+2776G>A and IGF1R IVS2-70184A>G and IVS2+46329T>C variant genotypes were significantly associated with decreased pancreatic cancer risk (odds ratio [OR] range, 0.60-0.75) and that IGFBP1 Ex4+111A>G (I253M) was significantly associated with increased pancreatic cancer risk (OR=1.46) after adjusted for other risk factors and multiple comparisons (P≤.007). 21852217 2012
dbSNP: rs1412335442
rs1412335442
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE We observed that the IGF1 *10212C>A and Ex4+2776G>A and IGF1R IVS2-70184A>G and IVS2+46329T>C variant genotypes were significantly associated with decreased pancreatic cancer risk (odds ratio [OR] range, 0.60-0.75) and that IGFBP1 Ex4+111A>G (I253M) was significantly associated with increased pancreatic cancer risk (OR=1.46) after adjusted for other risk factors and multiple comparisons (P≤.007). 21852217 2012
dbSNP: rs767132637
rs767132637
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Sanger sequencing of the primary MCC tumors detected one additional PIK3CA mutation (R19K) that had not been previously described in cancer. 22261808 2012
dbSNP: rs767132637
rs767132637
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Sanger sequencing of the primary MCC tumors detected one additional PIK3CA mutation (R19K) that had not been previously described in cancer. 22261808 2012
dbSNP: rs767132637
rs767132637
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0007129
Disease:
Merkel cell carcinoma
0.010 GeneticVariation BEFREE Sanger sequencing of the primary MCC tumors detected one additional PIK3CA mutation (R19K) that had not been previously described in cancer. 22261808 2012
dbSNP: rs145459032
rs145459032
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1134719
Disease:
Invasive Ductal Breast Carcinoma
0.010 GeneticVariation BEFREE HRG was found to potently induce the recruitment of the M(r) 85,000 regulatory subunit of PI3K by phosphotyrosine proteins in both nonneoplastic H16N-2 mammary epithelial cells (which express normal c-erbB-2 levels) and in the 21MT-2 and 21MT-1 cell lines, which were all isolated from a single patient with intraductal and invasive ductal carcinoma of the breast and express c-erbB-3 but not c-erbB-4 in culture. 8732665 1996