|
rs121913273
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs1057519927
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs121913281
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121913286
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs1560137609
|
|
GT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs121913279
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Active mutations of PI3K catalytic subunit PIK3CA (e.g., H1047R) and amplification of its homolog PIK3CB are observed in a large number of breast cancers.
|
29545474 |
2018 |
|
rs17849071
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among different BCa intrinsic subtypes, no significant differences were found on P53 expression status (P = 0.356) or rs17849071 polymorphism (T>G) (P = 0.813).
|
24908061 |
2014 |
|
rs2699887
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Epidemiologic studies suggested that mutations of the PI3K/PTEN/AKT pathway genes are associated with cancer risk, yet no data are available for PTEN rs701848, PIK3CA rs2699887, and AKT1 rs2494752 polymorphism and breast cancer(BC) risk.
|
28423632 |
2017 |
|
rs121913279
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Formalin-fixed paraffin-embedded tumour specimens from 118 HER2-overexpressing breast cancer patients treated with radical local therapy and trastuzumab in adjuvant setting were used for the assessment of: (1) PIK3CA gene mutations (p.H1047R and p.E545K) by qPCR, and (2) expression of Ki-67, EGFR, MUC4, HER3 and PTEN by immunohistochemistry.
|
28123607 |
2017 |
|
rs104886003
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Formalin-fixed paraffin-embedded tumour specimens from 118 HER2-overexpressing breast cancer patients treated with radical local therapy and trastuzumab in adjuvant setting were used for the assessment of: (1) PIK3CA gene mutations (p.H1047R and p.E545K) by qPCR, and (2) expression of Ki-67, EGFR, MUC4, HER3 and PTEN by immunohistochemistry.
|
28123607 |
2017 |
|
rs17849079
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we have shown a high prevalence (8.2-fold) of a silent variant (SNP, rs17849079) in the Arab breast cancer population compared with disease-free individuals.
|
23982433 |
2013 |
|
rs121913279
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Gene set enrichment analysis reveals a highly significant concordance of the genes differentially expressed in MCF-10A-H1047R cells and the established protein and RNA signatures of basal breast cancer.
|
25583473 |
2015 |
|
rs104886003
|
|
|
0.760 |
GeneticVariation |
BEFREE |
In this study, we directly compared PIK3CA hotspot mutations (E545K, H1047R) in EpCAM-positive CTCs and paired plasma-ctDNA in breast cancer (BrCa).
|
31254443 |
2019 |
|
rs121913279
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In this study, we directly compared PIK3CA hotspot mutations (E545K, H1047R) in EpCAM-positive CTCs and paired plasma-ctDNA in breast cancer (BrCa).
|
31254443 |
2019 |
|
rs121913279
|
|
|
0.800 |
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 |
|
rs121913279
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In trastuzumab-resistant BT474 H1047R breast cancer xenografts, NVP-BEZ235 inhibited PI3K signaling and had potent antitumor activity.
|
18829560 |
2008 |
|
rs121913273
|
|
|
0.730 |
GeneticVariation |
BEFREE |
ORR and 6 m PFS were both 5.6% (1/18), with one patient with HR+ breast cancer and a PIK3CA E542K mutation experiencing a partial response (on treatment for 36 weeks).
|
31277699 |
2019 |
|
rs121913279
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma.
|
16353168 |
2006 |
|
rs104886003
|
|
|
0.760 |
GeneticVariation |
UNIPROT |
PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma.
|
16353168 |
2006 |
|
rs397517201
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma.
|
16353168 |
2006 |
|
rs121913279
|
|
|
0.800 |
GeneticVariation |
BEFREE |
PIK3CA mutations are seemingly the most common driver mutations in breast cancer with H1047R and E545K being the most common of these, accounting together for around 60% of all PIK3CA mutations and have promising therapeutic implications.
|
29523855 |
2018 |
|
rs104886003
|
|
|
0.760 |
GeneticVariation |
BEFREE |
PIK3CA mutations are seemingly the most common driver mutations in breast cancer with H1047R and E545K being the most common of these, accounting together for around 60% of all PIK3CA mutations and have promising therapeutic implications.
|
29523855 |
2018 |
|
rs121913279
|
|
|
0.800 |
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 |
|
rs121913279
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Recently, PI3K H1047R mutation has been reported to sensitize breast cancer cells to PI3K inhibition by aspirin.
|
29504069 |
2018 |
|
rs587777790
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Structural prediction, whole exome sequencing and molecular dynamics simulation confirms p.G118D somatic mutation of PIK3CA as functionally important in breast cancer patients.
|
31174159 |
2019 |