rs104886003, PIK3CA

N. diseases: 71
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 CausalMutation CLINVAR
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.800 CausalMutation CLINVAR
Megalencephaly cutis marmorata telangiectatica congenita
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
0.800 CausalMutation CLINVAR
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.710 GeneticVariation CLINVAR
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
0.700 CausalMutation CLINVAR
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.700 CausalMutation CLINVAR
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
0.700 CausalMutation CLINVAR
Breast adenocarcinoma
CUI: C0858252
Disease: Breast adenocarcinoma
0.700 CausalMutation CLINVAR
Megalencephaly cutis marmorata telangiectatica congenita
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
0.800 GeneticVariation UNIPROT "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112 2016
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR A novel dual PI3Kalpha/mTOR inhibitor PI-103 with high antitumor activity in non-small cell lung cancer cells. 19513541 2009
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR A novel dual PI3Kalpha/mTOR inhibitor PI-103 with high antitumor activity in non-small cell lung cancer cells. 19513541 2009
Head and Neck Neoplasms
CUI: C0018671
Disease: Head and Neck Neoplasms
0.700 GeneticVariation CLINVAR A phase 1 study of everolimus plus docetaxel plus cisplatin as induction chemotherapy for patients with locally and/or regionally advanced head and neck cancer. 23408298 2013
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR Allelic dilution obscures detection of a biologically significant resistance mutation in EGFR-amplified lung cancer. 16906227 2006
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR Allelic dilution obscures detection of a biologically significant resistance mutation in EGFR-amplified lung cancer. 16906227 2006
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830 2008
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.010 GeneticVariation BEFREE Analysis of 675 tumors revealed activation of PIK3CA and other PI3K/AKT pathway genes in 31% of squamous carcinomas and 24% of adeno- and adenosquamous tumors, predominantly at two sites (E542K, E545K) in the helical domain of the PIK3CA gene. 26080840 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 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
Secondary malignant neoplasm of liver
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
0.010 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
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008