(Q28371029)

English

PIK3CA E542K

genetic variant

GLU542LYS
E542K
RS121913273

In more languages

Statements

missense mutation

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/variants/103

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/variants/103

178936082

genomic assembly

Genome assembly GRCh37

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/variants/103

178936082

genomic assembly

Genome assembly GRCh37

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/variants/103

biological variant of

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/variants/103

positive therapeutic predictor for

medical condition treated

determination method

CIViC evidence level D

CIViC 3-star trust rating

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/evidence/1626

Genetic alterations in the phosphoinositide 3-kinase/Akt signaling pathway confer sensitivity of thyroid cancer cells to therapeutic targeting of Akt and mammalian target of rapamycin

medical condition treated

determination method

CIViC evidence level D

CIViC 3-star trust rating

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/evidence/1626

Genetic alterations in the phosphoinositide 3-kinase/Akt signaling pathway confer sensitivity of thyroid cancer cells to therapeutic targeting of Akt and mammalian target of rapamycin

medical condition treated

head and neck squamous cell carcinoma

determination method

CIViC evidence level C

CIViC 2-star trust rating

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/evidence/1549

Phase I Study of Apitolisib (GDC-0980), Dual Phosphatidylinositol-3-Kinase and Mammalian Target of Rapamycin Kinase Inhibitor, in Patients with Advanced Solid Tumors

medical condition treated

determination method

CIViC evidence level D

CIViC 3-star trust rating

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/evidence/311

Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic

determination method

CIViC evidence level D

CIViC 2-star trust rating

medical condition treated

Her2-receptor positive breast cancer

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/evidence/2022

Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models

determination method

CIViC evidence level D

CIViC 2-star trust rating

medical condition treated

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/evidence/2026

Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models

negative therapeutic predictor for

determination method

CIViC evidence level C

CIViC 3-star trust rating

medical condition treated

colorectal cancer

statement disputed by

Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/evidence/4424

Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis

determination method

CIViC evidence level B

CIViC 3-star trust rating

medical condition treated

colorectal cancer

statement disputed by

Analysis of circulating DNA and protein biomarkers to predict the clinical activity of regorafenib and assess prognosis in patients with metastatic colorectal cancer: a retrospective, exploratory analysis of the CORRECT trial

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/evidence/83

Analysis of circulating DNA and protein biomarkers to predict the clinical activity of regorafenib and assess prognosis in patients with metastatic colorectal cancer: a retrospective, exploratory analysis of the CORRECT trial

negative prognostic predictor for

colorectal cancer

determination method

CIViC evidence level B

CIViC 3-star trust rating

1 reference

28 December 2020

https://civic.genome.wustl.edu/links/evidence/385

PIK3CA mutations in colorectal cancer are associated with clinical resistance to EGFR-targeted monoclonal antibodies

Identifiers

CIViC variant ID

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/variants/103

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_006218.3:c.1624G>A

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/variants/103

NP_006209.2:p.Glu542Lys

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/variants/103

ENST00000263967.3:c.1624G>A

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/variants/103

NC_000003.11:g.178936082G>A

1 reference

25 February 2022

https://civic.genome.wustl.edu/links/variants/103

Sitelinks

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