(Q28371034)

English

PIK3CA H1047R

genetic variant

HIS1047ARG
H1047R
RS121913279

In more languages

Statements

missense mutation

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/107

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/107

178952085

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/107

178952085

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/107

biological variant of

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/107

positive therapeutic predictor for

Fulvestrant / everolimus combination therapy

determination method

CIViC evidence level C

CIViC 2-star trust rating

medical condition treated

Her2-receptor positive breast cancer

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/1623

Combined treatment with everolimus and fulvestrant reversed anti-HER2 resistance in a patient with refractory advanced breast cancer: a case report

determination method

CIViC evidence level D

CIViC 3-star trust rating

medical condition treated

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/1625

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

determination method

CIViC evidence level D

CIViC 3-star trust rating

medical condition treated

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/1625

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

determination method

CIViC evidence level D

CIViC 4-star trust rating

medical condition treated

Her2-receptor positive breast cancer

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/2096

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

23 May 2022

https://civic.genome.wustl.edu/links/evidence/2102

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 B

CIViC 2-star trust rating

medical condition treated

colorectal cancer

statement disputed by

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

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/258

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

determination method

CIViC evidence level B

CIViC 2-star trust rating

medical condition treated

colorectal cancer

statement disputed by

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

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/258

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

determination method

CIViC evidence level C

CIViC 2-star trust rating

medical condition treated

colorectal cancer

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/388

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

determination method

CIViC evidence level C

CIViC 2-star trust rating

medical condition treated

colorectal cancer

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/388

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

ado-trastuzumab emtansine

determination method

CIViC evidence level D

CIViC 3-star trust rating

medical condition treated

Her2-receptor positive breast cancer

statement disputed by

Relationship between Tumor Biomarkers and Efficacy in EMILIA, a Phase III Study of Trastuzumab Emtansine in HER2-Positive Metastatic Breast Cancer

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/2103

Relationship between Tumor Biomarkers and Efficacy in EMILIA, a Phase III Study of Trastuzumab Emtansine in HER2-Positive Metastatic Breast Cancer

determination method

CIViC evidence level D

CIViC 3-star trust rating

medical condition treated

colorectal cancer

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/3733

Antitumor activity of BRAF inhibitor vemurafenib in preclinical models of BRAF-mutant colorectal cancer

determination method

CIViC evidence level D

CIViC 2-star trust rating

medical condition treated

Her2-receptor positive breast cancer

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/8548

Relationship between Tumor Biomarkers and Efficacy in EMILIA, a Phase III Study of Trastuzumab Emtansine in HER2-Positive Metastatic Breast Cancer

irinotecan / Cetuximab combination therapy

determination method

CIViC evidence level C

CIViC 3-star trust rating

medical condition treated

colorectal cancer

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/3841

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

Trastuzumab / Lapatinib combination therapy

determination method

CIViC evidence level D

CIViC 4-star trust rating

medical condition treated

Her2-receptor positive breast cancer

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/6204

Phosphatidylinositol 3-kinase hyperactivation results in lapatinib resistance that is reversed by the mTOR/phosphatidylinositol 3-kinase inhibitor NVP-BEZ235.

Identifiers

CIViC variant ID

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/107

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_006218.3:c.3140A>G

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/107

NP_006209.2:p.His1047Arg

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/107

ENST00000263967.3:c.3140A>G

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/107

NC_000003.11:g.178952085A>G

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/107

Sitelinks

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Wiktionary(0 entries)

Multilingual sites(0 entries)

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