|
Venous malformation
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have generated a mouse model that faithfully mirrors human VM through mosaic expression of Pik3ca(H1047R), a constitutively active mutant of the p110α isoform of phosphatidylinositol 3-kinase (PI3K), in the embryonic mesoderm.
|
27030595 |
2016 |
|
Uterine Cervical Neoplasm
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Uterine Cervical Neoplasm
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Uterine Carcinosarcoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Uterine Carcinosarcoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Tumor Progression
|
|
0.010 |
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 |
|
Trichohepatoenteric Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
We describe a new case and document that the syndrome is caused by the somatic PIK3CA mutation c.3140A>G, p.His1047Arg.
|
30180809 |
2018 |
|
Transitional cell carcinoma of bladder
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Transitional cell carcinoma of bladder
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Stomach Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Stage IV Gallbladder Cancer AJCC v8
|
|
0.010 |
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 |
|
Stage III Gallbladder Cancer AJCC v8
|
|
0.010 |
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 |
|
Stage IIB Gallbladder Cancer AJCC v8
|
|
0.010 |
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 |
|
Stage IIA Gallbladder Cancer AJCC v8
|
|
0.010 |
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 |
|
Stage 0 Gallbladder Cancer AJCC v8
|
|
0.010 |
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 |
|
Squamous cell carcinoma of the head and neck
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Squamous cell carcinoma of the head and neck
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Squamous cell carcinoma of lung
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Squamous cell carcinoma of lung
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Squamous cell carcinoma of esophagus
|
|
0.010 |
GeneticVariation
|
BEFREE |
We examined five hotspot mutations in the PIK3CA gene (E542K, E545K, E546K, H1047R, and H1047L) in formalin-fixed and paraffin-embedded tissue sections of paired endoscopic biopsy and surgically resected specimens from 181 patients undergoing curative resection for ESCC between 2000 and 2011 using a Luminex technology-based multiplex gene mutation detection kit.
|
28068934 |
2017 |
|
Serous cystadenocarcinoma ovary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Serous cystadenocarcinoma ovary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Secondary malignant neoplasm of colon and/or rectum
|
|
0.010 |
GeneticVariation
|
BEFREE |
To model PIK3CA-activating mutations in late stages of cancer, we took advantage of the isogenic conversion of a PIK3CA-wild-type tumor into a PIK3CA H1047R-mutated tumor using the highly metastatic colorectal cancer cell line SW48.
|
23986086 |
2013 |
|
Seborrheic keratosis
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Seborrheic keratosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R.
|
17673550 |
2007 |