Gene Variant Detail

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Gene PIK3CA
Variant H1047R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA H1047R is a hotspot mutation that lies within the kinase domain of the Pik3ca protein (UniProt.org). H1047R results in increased phosphorylation of Akt and Mek1/2, growth factor-independent cell survival, and transformation in cell culture (PMID: 26627007, PMID: 29533785).
Associated Drug Resistance

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Transcript NM_006218
gDNA chr3:g.179234297A>G
cDNA c.3140A>G
Protein p.H1047R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512894 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
XM_006713658 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
NM_006218 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 over exp PIK3CA H1047R Her2-receptor positive breast cancer sensitive Bevacizumab + Buparlisib Preclinical Actionable In a preclinical study, treatment with Buparlisib (BKM120) resulted in decreased tumor growth, but not tumor regression, in mouse models of ERBB2 (HER2)-over expressing breast cancer expressing PIK3CA H1047R (PMID: 23940356). 23940356
ERBB2 over exp PIK3CA H1047R Her2-receptor positive breast cancer resistant Pertuzumab + Trastuzumab Preclinical Actionable In a preclinical study, a mouse breast cancer model with ERBB2 (HER2) over-expression that also expressed the PIK3CA H1047R mutation showed resistance to the combination of Heceptin (trastuzumab) and Perjeta (pertuzumab) (PMID: 23940356). 23940356
ERBB2 over exp PIK3CA H1047R Her2-receptor positive breast cancer sensitive Buparlisib + Trastuzumab Preclinical Actionable In a preclinical study, the combination of Herceptin (trastuzumab) and Buparlisib (BKM120) inhibited tumor growth in mouse ERBB2 (HER2)-over expressing breast cancer models expressing PIK3CA H1047R, with moderate efficacy over Buparlisib (BKM120) alone (PMID: 23940356). 23940356
ERBB2 over exp PIK3CA H1047R Her2-receptor positive breast cancer resistant Lapatinib + Trastuzumab Preclinical Actionable In a preclinical study, a mouse breast cancer model with mammary ERBB2 (HER2) over-expression that also expressed the PIK3CA H1047R mutation showed resistance to the combination of Herceptin (trastuzumab) and Tykerb (lapatinib) (PMID: 23940356). 23940356
ERBB2 over exp PIK3CA H1047R Her2-receptor positive breast cancer no benefit Buparlisib + Lapatinib + Trastuzumab Preclinical Actionable In a preclinical study, the combination of Buparlisib (BKM120), Herceptin (trastuzumab), and Tykerb (lapatinib) inhibited tumor growth in mouse models of ERBB2 (HER2)-over expressing breast cancer expressing PIK3CA H1047R, but efficacy was not significantly improved over Buparlisib (BKM120) alone (PMID: 23940356). 23940356
ERBB2 over exp PIK3CA H1047R Her2-receptor positive breast cancer resistant Trastuzumab Preclinical Actionable In a preclinical study, mouse breast cancer models over expressing ERBB2 (HER2) and expressing PIK3CA H1047R were resistant to Herceptin (trastuzumab) (PMID: 23940356). 23940356
ERBB2 over exp PIK3CA H1047R stomach cancer predicted - resistant Trastuzumab Clinical Study - Cohort Actionable In a clinical study (AMNESIA-1), assessment of pre-treatment tumor samples from ERBB2 (HER2)-positive gastric or gastroesophageal cancer patients (defined as HER2 IHC 3+ or HER2 IHC 2+/ISH+) identified PIK3CA mutations in 15% (3/20) of patients demonstrating primary resistance to Herceptin (trastuzumab), including 1 patient harboring PIK3CA H1047R (PMID: 29208673). 29208673
ERBB2 over exp PIK3CA H1047R Her2-receptor positive breast cancer sensitive Buparlisib + Pertuzumab + Trastuzumab Preclinical Actionable In a preclinical study, the combination of Buparlisib (BKM120), Herceptin (trastuzumab), and Perjeta (pertuzumab) inhibited tumor growth in mouse models of ERBB2 (HER2)-over expressing breast cancer expressing PIK3CA H1047R, with improved efficacy over Buparlisib (BKM120) alone (PMID: 23940356). 23940356
PIK3CA H1047R breast cancer sensitive BAY1125976 Preclinical - Cell line xenograft Actionable In a preclinical study, BAY1125976 inhibited proliferation of breast cancer cell lines harboring PIK3CA H1047R in culture, and inhibited AKT signaling and tumor growth in a PIK3CA H1047R-mutant cell line xenograft model (PMID: 27699769). 27699769
PIK3CA H1047R lung squamous cell carcinoma sensitive Buparlisib Preclinical - Cell culture Actionable In a preclinical study, Buparlisib (BKM120) induced apoptosis, inhibited cell proliferation, migration, and invasion of lung squamous cell carcinoma cells over expressing wild-type Pik3ca in culture (PMID: 26013318). 26013318
PIK3CA H1047R urinary bladder cancer sensitive BEZ235 Preclinical - Pdx Actionable In a preclinical study, BEZ235 inhibited tumor growth in a patient-derived xenograft (PDX) model of bladder cancer harboring PIK3CA H1047R (PMID: 26270481). 26270481
PIK3CA H1047R Advanced Solid Tumor sensitive Trametinib Preclinical Actionable In a preclinical study, Mekinist (trametinib) inhibited survival of transformed cell lines overexpressing PIK3CA H1047R in culture (PMID: 26627007). 26627007
PIK3CA H1047R stomach cancer sensitive Capivasertib Preclinical - Pdx Actionable In a preclinical study, AZD5363 inhibited growth in a patient-derived xenograft model of gastric cancer harboring a PIK3CA H1047R mutation (PMID: 24088382). 24088382
PIK3CA H1047R head and neck squamous cell carcinoma sensitive Sirolimus + Trametinib Preclinical - Cell line xenograft Actionable In a preclinical study, Rapamune (sirolimus) worked synergistically with Mekinist (trametinib) to inhibit proliferation of head and neck squamous carcinoma cell lines harboring PIK3CA H1047R in culture and to reduce tumor growth in cell line xenograft models (PMID: 26882569). 26882569
PIK3CA H1047R urinary bladder cancer sensitive Pictilisib Preclinical - Pdx Actionable In a preclinical study, Pictilisib (GDC-0941) inhibited Akt phosphorylation and tumor growth, prolonged survival in patient-derived xenograft (PDX) models of bladder cancer harboring PIK3CA H1047R (PMID: 28808038). 28808038
PIK3CA H1047R breast cancer sensitive Buparlisib Preclinical - Cell line xenograft Actionable In a preclinical study, a breast cancer cell line xenograft model harboring PIK3CA H1047R demonstrated tumor regression within the mammary fat pad when treated with Buparlisib (BKM120) (PMID: 28539475). 28539475
PIK3CA H1047R Advanced Solid Tumor sensitive Sirolimus Preclinical Actionable In a preclinical study, transformed cells expressing PIK3CA H1047R were sensitive to Rapamune (sirolimus), resulting in inhibition of transformation in culture (PMID: 15647370). 15647370
PIK3CA H1047R head and neck squamous cell carcinoma sensitive Gedatolisib Preclinical - Cell culture Actionable In a preclinical study, head and neck squamous cell carcinoma cell lines harboring PIK3CA H1047R demonstrated sensitivity to treatment with Gedatolisib (PF-05212384) in culture (PMID: 25977343). 25977343
PIK3CA H1047R Advanced Solid Tumor predicted - sensitive Alpelisib Preclinical - Cell culture Actionable In a preclinical study, Piqray (Alpelisib) decreased Akt phosphorylation and inhibited PI3K signaling, and demonstrated dose-dependent inhibition of survival in human pluripotent stem cells harboring PIK3CA H1047R in culture (PMID: 30948643). 30948643
PIK3CA H1047R breast cancer sensitive BEZ235 Preclinical Actionable In a preclinical study, BEZ235 inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA H1047R in culture (PMID: 26627007). 26627007
PIK3CA H1047R lung adenocarcinoma no benefit Sirolimus Preclinical Actionable In a preclinical study, Sirolimus (rapamycin) failed to inhibit tumor growth in a mouse lung adenocarcinoma model expressing the PIK3CA H1047R mutation (PMID: 19029981). 19029981
PIK3CA H1047R breast cancer sensitive Trametinib Preclinical Actionable In a preclinical study, Mekinist (trametinib) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA H1047R in culture (PMID: 26627007). 26627007
PIK3CA H1047R breast cancer sensitive CYH33 Preclinical - Cell line xenograft Actionable In a preclinical study, CYH33 inhibited proliferation of breast cancer cell lines harboring PIK3CA H1047R in culture, inhibited tumor progression in a transgenic mouse model, and induced cell cycle arrest, and inhibited PI3K signaling and tumor growth in cell line xenograft models (PMID: 30003928). 30003928
PIK3CA H1047R breast cancer sensitive M2698 Preclinical - Cell line xenograft Actionable In a preclinical study, a breast cancer xenograft model harboring PIK3CA H1047R was sensitive to M2698 (MSC2363318A), demonstrating inhibition of tumor growth (PMID: 27186432). 27186432
PIK3CA H1047R colorectal cancer resistant Cetuximab + Fluorouracil Preclinical - Cell culture Actionable In a preclinical study, colorectal cancer cells over expressing PIK3CA H1047R were resistant to Erbitux (cetuximab) and Fluorouracil combination treatment in culture (PMID: 28424201). 28424201
PIK3CA H1047R malignant glioma sensitive Buparlisib + Selumetinib Preclinical - Cell culture Actionable In a preclinical study, the combination therapy of Buparlisib (BKM120) and Selumetinib (AZD6244) led to a synergistic effect, resulting in growth inhibition of astrocytoma cells expressing PIK3CA H1047R, but did not result in an effect as high as that seen in cells expressing PIK3CA R88Q or PIK3CA E542K in culture (PMID: 29975751). 29975751
PIK3CA H1047R lung adenocarcinoma sensitive BEZ235 Preclinical Actionable In a preclinical study, BEZ235 promoted tumor regression in a mouse lung adenocarcinoma model expressing PIK3CA H1047R (PMID: 19029981). 19029981
PIK3CA H1047R breast cancer sensitive CH5132799 Preclinical Actionable In a preclinical study, CH5132799 inhibited proliferation of breast cancer cells harboring PIK3CA H1047R in culture (PMID: 21558396). 21558396
PIK3CA H1047R colorectal cancer sensitive Cetuximab Case Reports/Case Series Actionable In a retrospective analysis, Erbitux (cetuximab) combined with radiation therapy resulted in stable disease for 6 months in a colorectal carcinoma patient harboring a PIK3CA H1047R mutation (PMID: 25714871). 25714871
PIK3CA H1047R colorectal cancer sensitive Metformin Preclinical - Cell line xenograft Actionable In a preclinical study, Glucophage (metformin) demonstrated efficacy in treating dietary restriction-resistant human colorectal cancer cell line xenograft tumors harboring PIK3CA H1047R (PMID: 23986086). 23986086
PIK3CA H1047R breast cancer sensitive Alpelisib Preclinical Actionable In a preclinical study, Alpelisib (BYL719) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA H1047R in culture (PMID: 26627007). 26627007
PIK3CA H1047R ovarian cancer sensitive PF-04691502 Preclinical - Cell line xenograft Actionable In a preclinical study, PF-04691502 inhibited Pi3k signaling, resulted in growth inhibition of ovarian cancer cells harboring PIK3CA H1047R in culture and in cell line xenograft models (PMID: 21750219). 21750219
PIK3CA H1047R Advanced Solid Tumor sensitive Rigosertib Sodium Preclinical - Cell culture Actionable In a preclinical study, Rigosertib (ON 01910.Na) inhibited oncogenic transformation in fibroblast cells over-expressing Pik3ca H1047R in culture (PMID: 27104980). 27104980
PIK3CA H1047R ovarian cancer sensitive CH5132799 Phase I Actionable In a Phase I trial, CH5132799 demonstrated safety and preliminary efficacy in patients with advanced solid tumors, including a partial response in a patient with ovarian cancer harboring PIK3CA H1047R (PMID: 25231405). 25231405
PIK3CA H1047R Her2-receptor negative breast cancer no benefit Everolimus Phase III Actionable In a retrospective analysis of a Phase III trial (BOLERO-2), Afinitor (everolimus) demonstrated comparable progression-free survival benefit in patients with hormone receptor-positive, Erbb2 (Her2)-negative breast cancer harboring wild-type (HR=0.43) or mutant (HR=0.37) PIK3CA, similar benefit was observed in subgroups harboring PIK3CA H1047R (HR=0.37) and PIK3CA E545K/E542K (HR=0.30) (PMID: 28183140; NCT00863655). 28183140
PIK3CA H1047R breast cancer sensitive Taselisib Phase I Actionable In a Phase I trial, four patients with breast cancer harboring PIK3CA H1047R demonstrated a confirmed partial response when treated with Taselisib (GDC-0032) (PMID: 28331003). 28331003
PIK3CA H1047R progesterone-receptor positive breast cancer predicted - sensitive Everolimus Clinical Study - Cohort Actionable In a retrospective analysis, combination of Afinitor (everolimus) and hormone therapy resulted in improved median progression-free survival (8.8 vs 4.1 months, p=0.02) in patients with hormone receptor-positive metastatic breast cancer harboring PIK3CA H1047R (n=6) compared to patients without PIK3CA H1047R (n=10) (PMID: 31088410). 31088410
PIK3CA H1047R breast cancer sensitive Borussertib Preclinical - Cell culture Actionable In a preclinical study, borussertib inhibited proliferation of a breast cancer cell line harboring PIK3CA H1047R in culture (PMID: 30858154). 30858154
PIK3CA H1047R lung cancer sensitive BEZ235 Preclinical Actionable In a preclinical study, BEZ235 reduced tumor size in mouse models of lung cancer carrying PIK3CA H1047R (PMID: 19029981). 19029981
PIK3CA H1047R lung squamous cell carcinoma sensitive BEZ235 Preclinical - Cell culture Actionable In a preclinical study, BEZ235 induced apoptosis, inhibited cell proliferation, migration, and invasion of lung squamous cell carcinoma cells over expressing PIK3CA H1047R in culture (PMID: 26013318). 26013318
PIK3CA H1047R lung squamous cell carcinoma sensitive Alpelisib Preclinical - Cell culture Actionable In a preclinical study, Alpelisib (BYL719) induced apoptosis, inhibited cell proliferation, migration, and invasion of lung squamous cell carcinoma cells over expressing PIK3CA H1047R in culture (PMID: 26013318). 26013318
PIK3CA H1047R breast cancer sensitive Metformin Preclinical - Cell line xenograft Actionable In a preclinical study, Glucophage (metformin) inhibited cell proliferation of a dietary restriction-resistant PIK3CA H1047R-harboring human breast cancer cell line in culture, and inhibited tumor growth in xenograft models (PMID: 23986086). 23986086
PIK3CA H1047R lung cancer no benefit Sirolimus Preclinical Actionable In a preclinical study, Sirolimus (rapamycin) did not induce tumor shrinkage in mouse lung cancer models carrying PIK3CA H1047R (PMID: 19029981). 19029981
PIK3CA H1047R head and neck squamous cell carcinoma resistant Cetuximab Preclinical - Cell culture Actionable In a preclinical study, head and neck squamous cell carcinoma cells harboring PIK3CA H1047R were resistant to Erbitux (cetuximab) in culture (PMID: 30962319). 30962319
PIK3CA H1047R estrogen-receptor positive breast cancer predicted - sensitive Everolimus Clinical Study - Cohort Actionable In a retrospective analysis, combination of Afinitor (everolimus) and hormone therapy resulted in improved median progression-free survival (8.8 vs 4.1 months, p=0.02) in patients with hormone receptor-positive metastatic breast cancer harboring PIK3CA H1047R (n=6) compared to patients without PIK3CA H1047R (n=10) (PMID: 31088410). 31088410
PIK3CA H1047R ovarian cancer sensitive AZD8835 Preclinical Actionable In a preclinical study, AZD8835 inhibited tumor growth in mouse xenografts of ovarian cancer with a Pik3ca H1047R mutation (AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 2830). detail...
PIK3CA H1047R Advanced Solid Tumor sensitive A66 Preclinical Actionable In a preclinical study, A66 delayed tumor growth in human tumor xenograft models harboring PIK3CA H1047R mutations (PMID: 21668414). 21668414
PIK3CA H1047R head and neck squamous cell carcinoma predicted - sensitive SHR-A1307 Preclinical - Cell culture Actionable In a preclinical study, head and neck squamous cell carcinoma cells harboring PIK3CA H1047R treated with SHR-A1307 demonstrated inhibition of cell growth in culture (PMID: 30962319). 30962319
PIK3CA H1047R lung squamous cell carcinoma no benefit Taselisib Case Reports/Case Series Actionable In a Phase I (SWOG S1400B) trial, Taselisib (GDC-0032) treatment did not meet primary endpoint in patients with lung squamous cell carcinoma harboring PIK3CA mutations, none of the 4 patients harboring PIK3CA H1047R demonstrated response (PMID: 31158500; NCT02785913). 31158500
PIK3CA H1047R thyroid gland cancer sensitive MK2206 Preclinical - Cell culture Actionable In a preclinical study, MK2206 inhibited AKT activation, proliferation, and growth of thyroid cancer cell lines with PI3K/AKT pathway alterations in culture, including an anaplastic thyroid cancer cell line harboring PIK3CA H1047R (PMID: 21289267). 21289267
PIK3CA H1047R breast cancer sensitive Neratinib Preclinical Actionable In a preclinical study, Nerlynx (neratinib) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA H1047R in culture (PMID: 26627007). 26627007
PIK3CA H1047R breast cancer sensitive Miransertib Preclinical - Cell culture Actionable In a preclinical study, a breast cancer cell line harboring PIK3CA H1047R demonstrated sensitivity to treatment with Miransertib (ARQ092) in culture, resulting in inhibition of cell proliferation (PMID: 26469692). 26469692
PIK3CA H1047R breast cancer sensitive DHM25 Preclinical - Cell culture Actionable In a preclinical study, DHM25 increased cell death in breast cancer cell lines harboring PIK3CA H1047R in culture (PMID: 26237138). 26237138
PIK3CA H1047R breast metaplastic carcinoma predicted - sensitive Buparlisib + Paclitaxel Case Reports/Case Series Actionable In a clinical case study, Buparlisib (BKM120) in combination with Taxol (paclitaxel) resulted in a durable partial response in a patient with breast metaplastic carcinoma harboring PIK3CA H1047R, with a total response period of 70 weeks and an overall survival of 42 months (PMID: 30577988). 30577988
PIK3CA H1047R breast cancer sensitive Lapatinib Preclinical Actionable In a preclinical study, Tykerb (lapatinib) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA H1047R in culture (PMID: 26627007). 26627007
PIK3CA H1047R urinary bladder cancer sensitive Cisplatin + Pictilisib Preclinical - Pdx Actionable In a preclinical study, combination of or sequential treatment with Pictilisib (GDC-0941) and Platinol (cisplatin) significantly delayed tumor growth and prolonged survival in patient-derived xenograft (PDX) models of bladder cancer harboring PIK3CA H1047R (PMID: 28808038). 28808038
PIK3CA H1047R breast cancer sensitive Gedatolisib Preclinical Actionable In a preclinical study, Gedatolisib (PKI-587) inhibited growth of human breast cancer cells harboring PIK3CA H1047R in culture (PMID: 21325073, PMID: 17314276). 17314276 21325073
PIK3CA H1047R head and neck squamous cell carcinoma sensitive Radiotherapy + Taselisib Preclinical Actionable In a preclinical study, Taselisib (GDC-0032) enhanced the effects of radiation induced apoptosis of head and neck squamous carcinoma cells harboring PIK3CA H1047R (PMID: 26589432). 26589432
PIK3CA H1047R ovarian cancer sensitive A66 Preclinical - Cell line xenograft Actionable In a preclinical study, A66 delayed tumor growth in an ovarian cancer cell line xenograft model harboring PIK3CA H1047R (PMID: 21668414). 21668414
PIK3CA H1047R breast cancer sensitive ARQ 751 Preclinical - Cell culture Actionable In a preclinical study, a breast cancer cell line harboring PIK3CA H1047R demonstrated sensitivity to treatment with ARQ 751 in culture, resulting in inhibition of cell proliferation (PMID: 26469692). 26469692
PIK3CA H1047R thyroid gland cancer sensitive MK2206 + Temsirolimus Preclinical - Cell culture Actionable In a preclinical study, MK2206 and Torisel (temsirolimus) demonstrated synergy in inhibiting growth of an anaplastic thyroid cancer cell line harboring PIK3CA H1047R in culture (PMID: 21289267). 21289267
PIK3CA H1047R breast cancer sensitive MK2206 Preclinical Actionable In a preclinical study, MK2206 inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA H1047R in culture (PMID: 26627007). 26627007
PIK3CA P539R PIK3CA H1047R breast cancer sensitive Miransertib Preclinical - Cell culture Actionable In a preclinical study, breast cancer cells harboring PIK3CA P539R and H1047R were sensitive to Miransertib (ARQ092) in culture, demonstrating inhibition of cell growth (PMID: 26469692). 26469692
PIK3CA P539R PIK3CA H1047R breast cancer sensitive ARQ 751 Preclinical - Cell culture Actionable In a preclinical study, a breast cancer cell line harboring PIK3CA P539R and PH1047R was sensitive to ARQ 751 in culture, demonstrating inhibition of cell growth (PMID: 26469692). 26469692
PIK3CA P539R PIK3CA H1047R breast cancer sensitive PF-04691502 Preclinical - Cell culture Actionable In a preclinical study, PF-04691502 inhibited Akt phosphorylation and proliferation of breast cancer cells harboring both PIK3CA P539R and H1047R in culture (PMID: 21750219). 21750219
ERBB2 amp PIK3CA H1047R breast cancer sensitive CH5132799 + Trastuzumab Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of CH5132799 and Herceptin (trastuzumab) inhibited tumor growth and overcame Herceptin (trastuzumab) insensitivity in xenograft models of a human breast cancer cell line harboring PIK3CA H1047R and ERBB2 (HER2) amplification (PMID: 21558396). 21558396
ERBB2 amp PIK3CA H1047R breast cancer sensitive CYH33 Preclinical - Cell culture Actionable In a preclinical study, CYH33 inhibited proliferation of breast cancer cell lines harboring PIK3CA H1047R and ERBB2 (HER2) amplification in culture (PMID: 30003928). 30003928
ERBB2 amp PIK3CA H1047R ovarian cancer sensitive CH5132799 Preclinical - Cell line xenograft Actionable In a preclinical study, CH5132799 inhibited cell growth in a human ovarian cancer cell line harboring PIK3CA H1047R and ERBB2 (HER2) amplification, and inhibited tumor growth in xenograft models (PMID: 21558396). 21558396
ERBB2 amp PIK3CA H1047R breast cancer sensitive Gedatolisib Preclinical Actionable In a preclinical study, Gedatolisib (PKI-587) inhibited growth of human breast cancer cells harboring ERBB2 (HER2) amplification and PIK3CA H1047R in culture (PMID: 21325073, PMID: 17314276). 17314276 21325073
ERBB2 amp PIK3CA H1047R breast cancer sensitive CH5132799 Preclinical - Cell line xenograft Actionable In a preclinical study, CH5132799 inhibited cell growth and Akt phosphorylation, and promoted apoptosis in a human breast cancer cell line harboring PIK3CA H1047R and ERBB2 (HER2) amplification, and inhibited tumor growth in xenograft models (PMID: 21558396). 21558396
ERBB2 over exp PIK3CA H1047R SRC over exp urinary bladder cancer no benefit Ponatinib Preclinical - Pdx Actionable In a preclinical study, treatment with Iclusig (ponatinib) was not effective in inhibiting tumor growth in a patient-derived xenograft (PDX) model of bladder cancer with SRC over expression, which also over expressed ERBB2 (HER2) and harbored PIK3CA H1047R (PMID: 26270481). 26270481
ERBB2 over exp PIK3CA H1047R SRC over exp urinary bladder cancer no benefit Lapatinib Preclinical - Pdx Actionable In a preclinical study, treatment with Tykerb (lapatinib) was not effective in inhibiting tumor growth in a patient-derived xenograft (PDX) model of bladder cancer with ERBB2 (HER2) over expression, which also over expressed SRC and harbored PIK3CA H1047R (PMID: 26270481). 26270481
ERBB2 pos PIK3CA H1047R Her2-receptor positive breast cancer predicted - sensitive Neratinib Phase III Actionable In a Phase III trial (ExteNET), Nerlynx (neratinib) treatment resulted in improved 5-year invasive disease-free survival (92.4% vs 84.5%, HR=0.41, p=0.028) and clinical benefit (HR=0.40, p=0.041) compared to placebo in patients with ERBB2 (HER2)-positive early breast cancer who completed trastuzumab-based adjuvant therapy, and harbored PIK3CA amplification (n=61) or mutations (n=210), including H1047R (n=110), E542K (n=18), and E545K/D (n=82) (PMID: 30867034; NCT00878709). 30867034
ERBB2 pos PIK3CA H1047R Her2-receptor positive breast cancer sensitive Ado-trastuzumab emtansine Preclinical - Cell line xenograft Actionable In a preclinical study, Kadcyla (trastuzumab emtansine) inhibited survival of Herceptin (trastuzumab)-resistant ERBB2 (HER2) positive breast cancer cells harboring PIK3CA H1047R in culture, and induced tumor regression in cell line xenograft models (PMID: 26920887). 26920887
BRAF V600E PIK3CA H1047R thyroid gland carcinoma resistant Everolimus Case Reports/Case Series Actionable In a clinical case study, a patient with anaplastic thyroid carcinoma co-harboring BRAF V600E and PIK3CA H1047R demonstrated resistance to treatment with Afinitor (everolimus) (PMID: 27797976). 27797976
BRAF V600E PIK3CA H1047R thyroid gland carcinoma predicted - sensitive Dabrafenib + Everolimus + Trametinib Case Reports/Case Series Actionable In a clinical case study, a patient with anaplastic thyroid carcinoma co-harboring BRAF V600E and PIK3CA H1047R demonstrated tumor regression when treated with the triple combination, Tafinlar (dabrafenib), Mekinist (trametinib), and Afinitor (everolimus) (PMID: 27797976). 27797976
BRAF V600E PIK3CA H1047R thyroid gland carcinoma resistant Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, a patient with anaplastic thyroid carcinoma co-harboring BRAF V600E and PIK3CA H1047R demonstrated resistance to the combination therapy, Mekinist (trametinib) and Tafinlar (dabrafenib) (PMID: 27797976). 27797976
AKT1 over exp PIK3CA H1047R breast cancer resistant Alpelisib Preclinical - Cell culture Actionable In a preclinical study, Akt1 over expression in breast cancer cells harboring PIK3CA H1047R resulted in resistance to Alpelisib (BYL719) in culture (PMID: 27604488). 27604488
NRAS mut PIK3CA H1047R melanoma predicted - resistant Trametinib Preclinical - Cell culture Actionable In a preclinical study, one of two NRAS-mutant melanoma cell lines expressing PIK3CA H1047R demonstrated resistance to treatment with Mekinist (trametinib) in culture (PMID: 30819666). 30819666
PIK3CA E726K PIK3CA H1047R breast cancer sensitive GDC-0077 Preclinical - Cell culture Actionable In a preclinical study, breast epithelial cells expressing PIK3CA E726K and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by GDC-0077 treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). 31699932
PIK3CA E726K PIK3CA H1047R breast cancer sensitive Alpelisib Preclinical - Cell culture Actionable In a preclinical study, breast epithelial cells expressing PIK3CA E726 and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by Piqray (Alpelisib) treatment compared to cells expressing individual PIK3CA mutations in culture, while cells expressing PIK3CA E726 and PIK3CA H1047R in trans did not (PMID: 31699932). 31699932
PIK3CA E726K PIK3CA H1047R breast cancer sensitive Everolimus Preclinical - Cell culture Actionable In a preclinical study, breast epithelial cells expressing PIK3CA E726K and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by Afinitor (everolimus) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). 31699932
PIK3CA E453Q PIK3CA H1047R breast cancer sensitive Alpelisib Preclinical - Cell culture Actionable In a preclinical study, breast epithelial cells expressing PIK3CA E543Q and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by Piqray (Alpelisib) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). 31699932
PIK3CA E453Q PIK3CA H1047R breast cancer sensitive GDC-0077 Preclinical - Cell culture Actionable In a preclinical study, breast epithelial cells expressing PIK3CA E453Q and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by GDC-0077 treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). 31699932
PIK3CA E453Q PIK3CA H1047R breast cancer sensitive Everolimus Preclinical - Cell culture Actionable In a preclinical study, breast epithelial cells expressing PIK3CA E453Q and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by Afinitor (everolimus) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). 31699932
ERBB2 G776V PIK3CA H1047R ovarian cancer sensitive Everolimus + Neratinib Preclinical - Cell culture Actionable In a preclinical study, the addition of Afinitor (everolimus) to treatment with Nerlynx (neratinib) inhibited viability of an ovarian cancer cell line harboring ERBB2 (HER2) G776V and expressing PIK3CA H1047R in culture (PMID: 31978326). 31978326
ERBB2 G776V PIK3CA H1047R ovarian cancer resistant Neratinib Preclinical - Cell culture Actionable In a preclinical study, expression of PIK3CA H1047R conferred resistance to Nerlynx (neratinib) in an ovarian cancer cell line harboring ERBB2 (HER2) G776V in culture (PMID: 31978326). 31978326
ERBB2 G778_P780dup PIK3CA H1047R breast cancer decreased response Neratinib Preclinical - Pdx Actionable In a preclinical study, Nerlynx (neratinib) resulted in a moderate delay of tumor growth in a breast cancer patient-derived xenograft model harboring ERBB2 (HER2) G778_P780dup and PIK3CA H1074R (PMID: 31978326). 31978326
ERBB2 V777L PIK3CA H1047R breast cancer resistant Neratinib Preclinical - Cell culture Actionable In a preclinical study, a breast cancer cell line harboring ERBB2 (HER2) V777L and PIK3CA H1047R demonstrated resistance to Nerlynx (neratinib) in culture (PMID: 31978326). 31978326
ERBB2 V777L PIK3CA H1047R breast cancer sensitive Everolimus + Neratinib Preclinical - Cell culture Actionable In a preclinical study, Afinitor (everolimus) and Nerlynx (neratinib) worked synergistically to inhibit viability of a breast cancer cell line harboring ERBB2 (HER2) V777L and PIK3CA H1047R in culture (PMID: 31978326). 31978326
ERBB2 L755S PIK3CA H1047R breast cancer sensitive Everolimus + Neratinib Preclinical - Cell culture Actionable In a preclinical study, Afinitor (everolimus) and Nerlynx (neratinib) worked synergistically to inhibit viability of a breast cancer cell line harboring ERBB2 (HER2) L755S and PIK3CA H1047R in culture (PMID: 31978326). 31978326
ERBB2 L755S PIK3CA H1047R breast cancer resistant Neratinib Preclinical - Cell culture Actionable In a preclinical study, a breast cancer cell line harboring ERBB2 (HER2) L755S and PIK3CA H1047R demonstrated resistance to Nerlynx (neratinib) in culture (PMID: 31978326). 31978326