Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.780 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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.780 GeneticVariation BEFREE This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively. 25027743 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.780 GeneticVariation BEFREE In this study, we report the development of a knock-in mouse model for breast cancer where the endogenous Pik3ca allele was modified to allow tissue-specific conditional expression of a frequently found Pik3ca(H1047R) (Pik3ca(e20H1047R)) mutant allele. 22370636 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.780 GeneticVariation BEFREE Furthermore, coinhibition of p110α and ErbB3 potently suppressed proliferation and PI3K signaling in human breast cancer cells harboring PIK3CA(H1047R). 23633485 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.780 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 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.780 GeneticVariation BEFREE To elucidate mechanisms of resistance to PI3K-targeted therapy, we constructed a mouse model of breast cancer conditionally expressing human PIK3CA(H1047R). 21822287 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.780 GeneticVariation BEFREE In trastuzumab-resistant BT474 H1047R breast cancer xenografts, NVP-BEZ235 inhibited PI3K signaling and had potent antitumor activity. 18829560 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.780 GeneticVariation UNIPROT PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma. 16353168 2006
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.780 GeneticVariation BEFREE The incidence of point mutations in PIK3CA, the A3140G substitution in particular, in Singapore breast cancers are among the most frequent reported to date for any gene in breast cancer. 16582596 2006
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.780 GeneticVariation UNIPROT The prevalence of PIK3CA mutations in gastric and colon cancer. 15994075 2005
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.780 GeneticVariation UNIPROT Mutation of the PIK3CA gene in ovarian and breast cancer. 15520168 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.780 GeneticVariation UNIPROT Mutations of PIK3CA in anaplastic oligodendrogliomas, high-grade astrocytomas, and medulloblastomas. 15289301 2004