|
rs2699887
|
|
Malignant neoplasm of endometrium
|
|
0.010 |
GeneticVariation
|
BEFREE |
(2) In Cox regression analyses, three SNPs (PIK3R1 rs1862162, AKT2 rs892119, and PIK3CA rs2699887) showed significant associations with survival of endometrial cancer patients.
|
22146979 |
2012 |
|
rs2699887
|
|
Endometrial Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
(2) In Cox regression analyses, three SNPs (PIK3R1 rs1862162, AKT2 rs892119, and PIK3CA rs2699887) showed significant associations with survival of endometrial cancer patients.
|
22146979 |
2012 |
|
rs6443624
|
|
Malignant neoplasm of endometrium
|
|
0.010 |
GeneticVariation
|
BEFREE |
(3) KRAS rs7312175 and PIK3CA rs6443624</span> had significant effects on recurrence of endometrial cancer individually and combined in a locus-dosage manner (adjusted P (trend) = 0.003).
|
22146979 |
2012 |
|
rs6443624
|
|
Endometrial Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
(3) KRAS rs7312175 and PIK3CA rs6443624</span> had significant effects on recurrence of endometrial cancer individually and combined in a locus-dosage manner (adjusted P (trend) = 0.003).
|
22146979 |
2012 |
|
rs121913279
|
|
Congenital macrodactylia
|
|
0.710 |
GeneticVariation
|
BEFREE |
A mosaic gain-of-function mutation in the catalytic domain of PIK3CA (c.3140 A > G; p.His1047Arg) was detected in the adipose tissue and in skin cultured fibroblasts from the macrodactyly but not in blood.
|
28867506 |
2017 |
|
rs121913273
|
|
HER2-positive carcinoma of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
A nonsense mutation in PTPN11 (K99X), a pathogenic CCND1 splice site variant (P241P), a hotspot missense mutation in PIK3CA (E542K) and a hotspot missense mutation in TP53 (R249S); were observed in 25%, 75%, 30% and 40% of the HER2+ BC tissue samples, respectively.
|
30535550 |
2019 |
|
rs121913273
|
|
HER2-negative breast cancer
|
|
0.010 |
GeneticVariation
|
BEFREE |
A nonsense mutation in PTPN11 (K99X), a pathogenic CCND1 splice site variant (P241P), a hotspot missense mutation in PIK3CA (E542K) and a hotspot missense mutation in TP53 (R249S); were observed in 25%, 75%, 30% and 40% of the HER2+ BC tissue samples, respectively.
|
30535550 |
2019 |
|
rs121913284
|
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
A PIK3CA T1035A mutation present in a BC-PDX tumor was confirmed in isolated single CTCs and cells from dissociated metastatic nodules after whole genome amplification and sequencing.
|
30871481 |
2019 |
|
rs121913279
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
A positive association between the PIK3CA (H1047R) mutation and the patients' age was first found, except for the negative relationship with the degree of tumor differentiation.
|
27405731 |
2016 |
|
rs767439253
|
|
Prader-Willi Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample.
|
25188413 |
2014 |
|
rs121913273
|
|
Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
A specimen from the tumor site that subsequently manifested rapid clinical progression contained a <i>PIK3CA</i> mutation E542K, and yielded propagating xenografts that retained the OD/AOD-defining genomic alterations (<i>IDH1</i><sup>R132H</sup> and 1p/19q codeletion) and <i>PIK3CA</i><sup>E542K</sup>, and displayed characteristic sensitivity to alkylating chemotherapeutic agents.
|
30975663 |
2019 |
|
rs121913273
|
|
Anaplastic Oligodendroglioma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A specimen from the tumor site that subsequently manifested rapid clinical progression contained a <i>PIK3CA</i> mutation E542K, and yielded propagating xenografts that retained the OD/AOD-defining genomic alterations (<i>IDH1</i><sup>R132H</sup> and 1p/19q codeletion) and <i>PIK3CA</i><sup>E542K</sup>, and displayed characteristic sensitivity to alkylating chemotherapeutic agents.
|
30975663 |
2019 |
|
rs121913273
|
|
Adult Anaplastic Oligodendroglioma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A specimen from the tumor site that subsequently manifested rapid clinical progression contained a <i>PIK3CA</i> mutation E542K, and yielded propagating xenografts that retained the OD/AOD-defining genomic alterations (<i>IDH1</i><sup>R132H</sup> and 1p/19q codeletion) and <i>PIK3CA</i><sup>E542K</sup>, and displayed characteristic sensitivity to alkylating chemotherapeutic agents.
|
30975663 |
2019 |
|
rs121913273
|
|
Childhood Anaplastic Oligodendroglioma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A specimen from the tumor site that subsequently manifested rapid clinical progression contained a <i>PIK3CA</i> mutation E542K, and yielded propagating xenografts that retained the OD/AOD-defining genomic alterations (<i>IDH1</i><sup>R132H</sup> and 1p/19q codeletion) and <i>PIK3CA</i><sup>E542K</sup>, and displayed characteristic sensitivity to alkylating chemotherapeutic agents.
|
30975663 |
2019 |
|
rs121913279
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs121913279
|
|
Mammary Neoplasms
|
|
0.740 |
GeneticVariation
|
BEFREE |
All mutations were mutually exclusive, apart from one basal-like breast tumour which harboured mutations in both MET (p.T992I) and PIK3CA (p.H1047R).
|
24318467 |
2014 |
|
rs121913279
|
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although BRAF(V600E)/PIK3CA(H1047R) melanomas were sensitive to the antiproliferative effects of selective PI3Kα blockade, inhibition of BRAF(V600E)/PTEN(Null) melanoma proliferation required combined blockade of PI3Kα, PI3Kδ, and PI3Kγ, and was insensitive to PI3Kβ blockade.
|
25472943 |
2015 |
|
rs17849071
|
|
Breast Carcinoma
|
|
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 |
|
rs17849071
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs1607237
|
|
Squamous cell carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
An increased frequency of the C allele of PIK3CA rs1607237 was observed in OSCC patients as compared with controls; However, the significance was lost after Bonferroni correction (P = 0.048, pc = 0.576).
|
26722541 |
2015 |
|
rs121913273
|
|
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 |
|
rs104886003
|
|
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 |
|
rs587776932
|
|
Neurofibromatosis 2
|
|
0.010 |
GeneticVariation
|
BEFREE |
Analysis of blood revealed a mosaic PIK3CA c.2740G>A (p.Gly914Arg) mutation, confirming the diagnosis of PIK3CA-related overgrowth, but no mutations in NF2 were detected.
|
28737257 |
2018 |
|
rs121913279
|
|
Biliary Tract Cancer
|
|
0.010 |
GeneticVariation
|
BEFREE |
Another matched serum sample (BTC 27P) was positive for PIK3CA p.H1047R with 10 mutant copies detected, i.e.
|
26498688 |
2015 |
|
rs104886003
|
|
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 |