Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913279
rs121913279
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.060 GeneticVariation BEFREE Structural Perturbations due to Mutation (H1047R) in Phosphoinositide-3-kinase (PI3Kα) and Its Involvement in Oncogenesis: An in Silico Insight. 31592171

2019

dbSNP: rs121913279
rs121913279
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.060 GeneticVariation BEFREE The results suggest PIK3CA H1047R mutant cells have a selective advantage in breast, contribute to breast cancer susceptibility, and drive tumor progression during breast carcinogenesis, even when present as only a subpopulation of tumor cells. 27108388

2016

dbSNP: rs121913279
rs121913279
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.060 GeneticVariation BEFREE PIK3CA(H1047R) expression alone failed to promote tumor formation, but dramatically enhanced tumorigenesis initiated by KRAS(G12D). 26567140

2015

dbSNP: rs121913279
rs121913279
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.060 GeneticVariation BEFREE Using in situ genetic lineage tracing and limiting dilution transplantation, we have unravelled the potential of PIK3CA(H1047R), one of the most frequent mutations occurring in human breast cancer, to induce multipotency during tumorigenesis in the mammary gland. 26266975

2015

dbSNP: rs121913279
rs121913279
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.060 GeneticVariation BEFREE Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that expression of the H1047R exon 20 mutant of PIK3CA in luminal mammary epithelial cells induces tumorigenesis, implying that PIK3CA mutation is an early event in breast cancer. 22315990

2012

dbSNP: rs121913279
rs121913279
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.060 GeneticVariation BEFREE To better understand the role of mutant PIK3CA in the initiation or progression of tumorigenesis, we generated mice in which a PIK3CA mutation commonly detected in human cancers (the H1047R mutation) could be conditionally knocked into the endogenous Pik3ca locus. 22214849

2012