chr3:179148523:> Detail (hg38) (PIK3CA)

Information

Genome

Assembly Position
hg19 chr3:178,866,311-178,957,881 
hg38 chr3:179,148,523-179,240,093

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
Her2-receptor positive breast cancer Everolimus B Predictive Supports Sensitivity/Response Somatic 4 27091708 Detail
cancer Pictilisib,Tanespimycin D Predictive Does Not Support Sensitivity/Response Somatic 2 25855885 Detail
head and neck cancer Dactolisib D Predictive Supports Sensitivity/Response Somatic 3 23619167 Detail
head and neck cancer Pictilisib,Trametinib,Tanespimycin D Predictive Does Not Support Sensitivity/Response Somatic 2 25855885 Detail
Her2-receptor positive breast cancer Trastuzumab B Predictive Supports Resistance Somatic 2 17936563 Detail
cancer Alpelisib D Predictive Supports Sensitivity/Response Somatic 4 24608574 Detail
head and neck squamous cell carcinoma Radiation Therapy,Taselisib D Predictive Supports Sensitivity/Response Somatic 3 26589432 Detail
stomach cancer Capivasertib D Predictive Supports Sensitivity/Response Somatic 3 24088382 Detail
cancer Capivasertib D Predictive Supports Sensitivity/Response Somatic 3 22294718 Detail
Her2-receptor positive breast cancer Capivasertib D Predictive Supports Sensitivity/Response Somatic 2 22294718 Detail
breast cancer Ribociclib,Phosphatidylinositide 3-Kinase Inhibitor D Predictive Supports Sensitivity/Response Somatic 4 25002028 Detail
breast cancer Palbociclib,Phosphatidylinositide 3-Kinase Inhibitor D Predictive Supports Sensitivity/Response Somatic 3 25002028 Detail
breast cancer Everolimus,MTOR Kinase Inhibitor PP242 D Predictive Supports Sensitivity/Response Somatic 3 21358673 Detail
endometrial cancer Pictilisib D Predictive Supports Sensitivity/Response Somatic 3 23674493 Detail
colorectal cancer Cetuximab D Predictive Supports Resistance Somatic 1 22586653 Detail
breast cancer Trastuzumab B Predictive Supports Resistance Somatic 3 21594665 Detail
Her2-receptor positive breast cancer Trastuzumab B Predictive Supports Resistance Somatic 3 21594665 Detail
lung non-small cell carcinoma Erlotinib,Gefitinib B Predictive Supports Resistance Somatic 3 21258250 Detail
cancer Capivasertib B Predictive Supports Sensitivity/Response Somatic 4 28489509 Detail
breast cancer B Prognostic Supports Better Outcome Somatic 3 17575221 Detail
estrogen-receptor positive breast cancer Tamoxifen B Predictive Does Not Support Sensitivity/Response Somatic 3 17575221 Detail
breast cancer Fluorouracil,Doxorubicin,Cyclophosphamide,Epirubicin,Paclitaxel B Predictive Does Not Support Sensitivity/Response Somatic 3 18371219 Detail
colorectal cancer B Prognostic Does Not Support Poor Outcome Somatic 3 19603024 Detail
colorectal cancer Oxaliplatin B Predictive Does Not Support Resistance Somatic 3 19603024 Detail
colorectal cancer Irinotecan B Predictive Does Not Support Resistance Somatic 3 19603024 Detail
colorectal cancer Bevacizumab B Predictive Does Not Support Resistance Somatic 3 19603024 Detail
colorectal cancer Cetuximab B Predictive Supports Resistance Somatic 3 19603024 Detail
colorectal cancer Cetuximab,Panitumumab B Predictive Supports Resistance Somatic 3 19223544 Detail
colorectal cancer Aspirin B Predictive Supports Sensitivity/Response Somatic 3 23094721 Detail
breast cancer Alpelisib,Fulvestrant A Predictive Supports Sensitivity/Response Somatic 5 31091374 Detail
colorectal cancer Cabozantinib D Predictive Supports Sensitivity/Response Somatic 3 25242168 Detail
endometrial cancer Ridaforolimus,Temsirolimus B Predictive Does Not Support Sensitivity/Response Somatic 3 24166148 Detail
colorectal cancer Anti-EGFR Monoclonal Antibody B Predictive Supports Resistance Somatic 4 23435830 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Archival tumor samples from 549 patients from the BOLERO-1 and -3 trials were analyzed for alteratio... CIViC Evidence Detail
Analysis of drug response data from the Sanger center cell line screen. Cell lines with either PI3K ... CIViC Evidence Detail
Preclinical analysis of the predicitive value of PIK3CA mutations for mTOR/PI3K Inhibition with BEZ-... CIViC Evidence Detail
6 head and neck cancer cell lines were tested for Response to 17-AAG, GDC-0941. Two of the cell line... CIViC Evidence Detail
The HER2 overexpressing breast cancer cell line BT-474 transduced with mutant PIK3CA H1047R demonstr... CIViC Evidence Detail
A set of 474 cell lines from the Cancer Cell Line Encyclopedia was tested for responsiveness to the ... CIViC Evidence Detail
A panel of 26 HNSCC cell lines was tested for efficacy of the p110 alpha, delta and gamma isoform in... CIViC Evidence Detail
In a panel of 22 gastric cancer cell lines, 4 of 6 cell lines having the highest sensitivity to AZD5... CIViC Evidence Detail
Sensitivity to pan-Akt inhibitor AZD5363 was assessed in a panel of 182 cell lines (160 with PTEN ev... CIViC Evidence Detail
HER2 overexpressing breast cancer cell lines with PIK3CA mutation BT474c (K111N) and HCC-1954 (H1047... CIViC Evidence Detail
Three PI3K mutant breast cancer cell lines were rendered resistant to PI3K inhibitors (BYL719 or GDC... CIViC Evidence Detail
Three PIK3CA mutant breast cancer cell lines were rendered resistant to PI3K inhibitors (BYL719 or G... CIViC Evidence Detail
A panel of 31 breast cancer cell lines was tested for sensitivity to mTORC1 inhibitor everolimus and... CIViC Evidence Detail
A panel of 24 endometrioid endometrial cancer (EEC) cell lines was characterized for a set of mutati... CIViC Evidence Detail
A cohort of patient-derived xenografts (PDX) from 85 patients with metastatic colorectal cancer was ... CIViC Evidence Detail
In retrospective study of 175 metastatic breast cancer patients treated with trastuzumab-based thera... CIViC Evidence Detail
In a retrospective study of 105 HER2-positive metastic breast cancer patients treated with trastuzum... CIViC Evidence Detail
In a retrospective study, 166 non-small cell lung cancer (NSCLC) patients that tended to have select... CIViC Evidence Detail
In a study of 37 patients with AKT1 (E13K) mutations, 5 patients harbored a concurrent PI3K/mTOR pat... CIViC Evidence Detail
This was a Swedish study of 270 breast tumors removed from patients with unilateral operable breast ... CIViC Evidence Detail
This was a Swedish study of 270 breast tumors removed from patients with unilateral operable breast ... CIViC Evidence Detail
This study of 140 patients with stage II-III breast cancer assessed the response of patients with PI... CIViC Evidence Detail
This was a retrospective clinical study of 168 metastatic colorectal cancer patients who received fi... CIViC Evidence Detail
This was a retrospective clinical study of 100 metastatic colorectal cancer patients who received FO... CIViC Evidence Detail
This was a retrospective clinical study of 44 metastatic colorectal cancer patients who received FOL... CIViC Evidence Detail
This was a retrospective clinical study of 97 metastatic colorectal cancer patients who received bev... CIViC Evidence Detail
This was a retrospective clinical study of 92 metastatic colorectal cancer patients who received cet... CIViC Evidence Detail
Mutational analysis of 110 metastatic colorectal cancer patients was used to examine objective tumor... CIViC Evidence Detail
This was a retrospective study of 964 colorectal cancer patients who participated in the Nurses' Hea... CIViC Evidence Detail
In a phase 3 trial, patients with hormone receptor positive, HER2 receptor negative breast were allo... CIViC Evidence Detail
20 patient-derived colorectal cancer xenografts were treated with cabozantinib, a c-MET and VEGFR2 i... CIViC Evidence Detail
94 endometrial cancer samples of women who had been treated with single agent mTOR inhibitors temsir... CIViC Evidence Detail
A meta-analysis of 8 metastatic colorectal cancer studies (839 patients) was performed. PIK3CA mutat... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr3:179,148,523-179,240,093
Variant Type
snv
Variant (CIViC) (CIViC Variant)
MUTATION
Transcript 1 (CIViC Variant)
ENST00000263967.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/311
Summary (CIViC Variant)
PIK3CA mutations are observed in many cancers among the most prevalent are breast cancer, colorectal cancer, and head and neck squamous cell carcinoma. These mutations have been observed in up to 40%, 20%, and 21% respectively for each of these cancer types with mutations commonly occurring within the helical exon 9 and kinase domain of exon 20. In breast cancer PIK3CA mutations have been associated with better prognosis, and a greater survival outcome, however the PI3K pathway is also associated with increased drug resistance (trastuzumab/lapatinib). PIK3CA mutations in both HNSCC and CRC have been associated with resistance to anti-EGFR therapeutic agents and mutations in exon 9 and 20 are associated with a poorer prognosis in CRC. Interestingly PIK3CA mutations in HNSCC have been observed to be absent from a number of ethnic groups including greek, german, and vietnamese populations.
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