Gene

PTEN

phosphatase and tensin homolog

Explore in graph →CI-GENE-00022414HGNC:9588 ENSG00000171862 NCBI 5728 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (136)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 51–100 of 136 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
PTEN G36R1
(functional)	—UNRESOLVED	Functional	D	Supports Loss Of Function	2	submitted

Cohorts

Alteration frequency by cohort (200)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved200 cohort rows (showing 50, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Evolution and co-occurrence of PI3K pathway gene mutations in endometrial carcinoma molecular subtypes at the single-cell level ucec_msk_dacruzpaula_2025	Endometrial Carcinoma	Ssm

Literature

Linked publications (53)

25 per page, newest first.

pubmedPublishedShowing 51–53 of 53 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Preclinical Test of Dacomitinib, an Irreversible EGFR Inhibitor, Confirms Its Effectiveness for Glioblastoma.
· Mol Cancer Ther · 2015 · PMID 25939761 · validated civic_curation pubmed
Response of head and neck squamous cell carcinoma cells carrying PIK3CA mutations to selected targeted therapies.
· JAMA Otolaryngol Head Neck Surg · 2015 · PMID 25855885 · validated civic_curation pubmed
Activation of PI3K/Akt pathway by PTEN reduction and PIK3CA mRNA amplification contributes to cisplatin resistance in an ovarian cancer cell line.
· Gynecol Oncol · 2005 · PMID 15790433 · validated civic_curation pubmed

PTEN H123D1
(functional)	—UNRESOLVED	Functional	D	Supports Loss Of Function	2	submitted	EID9742 Functional analysis of PTEN mutations was performed using an in vivo heterologous yeast reconstitution system to measure PTEN activity and rescue of growth arrest caused by hyperactive p110-alpha. The… (full text at CIViC) PMID 21828076 · Rodríguez-Escudero et al., 2011 · Open in CIViC	civic

PTEN H123D1

(functional)

—UNRESOLVED

Functional

Supports Loss Of Function

submitted

EID9742

Functional analysis of PTEN mutations was performed using an in vivo heterologous yeast reconstitution system to measure PTEN activity and rescue of growth arrest caused by hyperactive p110-alpha. The… (full text at CIViC)

PMID 21828076 · Rodríguez-Escudero et al., 2011 · Open in CIViC

PTEN Loss38
Akt Inhibitor MK2206	Pancreatic Carcinoma	Predictive	C	Supports Sensitivity Response	2	accepted	EID938 Among 33 patients treated with pan-AKT inhibitor MK-2206 in this phase 1 study, one patient with pancreatic adenocarcinoma and PTEN loss/KRAS G12D mutation experienced a decrease of approximately 60% … (full text at CIViC) PMID 22025163 · Yap et al., 2011 · Open in CIViC	civic
Alpelisib	Malignant Breast Neoplasm	Predictive	D	Supports Resistance	4	accepted	EID716 A case report described a responder to PI3K inhibitor BYL719 for a tumor with PIK3CA E542K mutation. After partial response for 9.5 months, resistance developed. Sequencing in this and other patients … (full text at CIViC) PMID 25409150 · Juric et al., 2015 · Open in CIViC	civic
Buparlisib + Carboplatin + PaclitaxelCombination	Solid NeoplasmCURATED_BROADER	Predictive	B	Does Not Support Sensitivity Response	2	accepted	EID5957 In one arm of this phase 1b study, 7 patients with PTEN deficient tumors were treated with continuous buparlisib (100 mg/daily) orally plus standard dose carboplatin AUC 5 and paclitaxel 175 mg/m2. No… (full text at CIViC) PMID 28281183 · Smyth et al., 2017 · Open in CIViC	civic
〃	Malignant NeoplasmALIAS	Predictive	C	Supports Sensitivity Response	3	accepted	EID714 All three patients with PTEN loss had benefit from adding Buparlisib to carboplatin+paclitaxel therapy in a phase I study in advanced solid cancers. PMID 25672916 · Hyman et al., 2015 · Open in CIViC	civic
Capivasertib	Malignant NeoplasmALIAS	Predictive	D	Supports Sensitivity Response	3	accepted	EID1502 In a panel of 182 cell lines (162 with PIK3CA mutation status known) from solid and hematological tumors, significant correlation was found between AZD5363 (pan-Akt inhibitor) sensitivity and PIK3CA m… (full text at CIViC) PMID 22294718 · Davies et al., 2012 · Open in CIViC	civic
Capivasertib + DocetaxelCombination	Malignant Gastric Neoplasm	Predictive	D	Supports Sensitivity Response	1	accepted	EID1500 A patient derived mouse xenograft model was established with gastric cancer cells having PTEN loss. The xenograft was resistant to monotherapy with both the pan-Akt inhibitor AZD5363, and also to the … (full text at CIViC) PMID 24088382 · Li et al., 2013 · Open in CIViC	civic
Cetuximab	Malignant Colorectal NeoplasmCURATED_BROADER	Predictive	B	Supports Resistance	3	accepted	EID506 In 27 patients with chemotherapy-naive or chemotherapy-refractory metastatic colorectal cancer who were treated with cetuximab and chemotherapy, PTEN loss was associated with non-response. PMID 21163703 · De Roock et al., 2011 · Open in CIViC	civic
Cetuximab + PanitumumabSubstitutes	Malignant Colorectal NeoplasmCURATED_BROADER	Predictive	B	Supports Resistance	3	accepted	EID6315 In this study, 81 metastatic colorectal cancer patients were treated with anti-epidermal growth factor receptor monoclonal antibodies (cetuximab or panitumumab). Multivariate analysis demonstrated a s… (full text at CIViC) PMID 19223544 · Sartore-Bianchi et al., 2009 · Open in CIViC	civic
〃	Malignant Colorectal NeoplasmCURATED_BROADER	Predictive	B	Does Not Support Resistance	1	submitted	EID6361 In this study, a large cohort of metastatic colorectal cancer patients were treated with anti-epidermal growth factor receptor monoclonal antibodies (cetuximab or panitumumab). PTEN protein expression… (full text at CIViC) PMID 19223544 · Sartore-Bianchi et al., 2009 · Open in CIViC	civic
Chemotherapy	Gastric CarcinomaALIAS	Predictive	B	Supports Resistance	2	accepted	EID1493 Cancer and normal tissue samples were taken from 68 gastric cancer patients undergoing surgery without prior chemotherapy. Tissue samples were divided into high grade and low grade for phospho Akt (p-… (full text at CIViC) PMID 15900596 · Oki et al., 2005 · Open in CIViC	civic
Cisplatin	Malignant Ovarian Neoplasm	Predictive	D	Supports Resistance	2	accepted	EID1492 A cisplatin resistant derivative of ovarian cancer cell line OVCAR-3 was generated by long term passage with increasing cisplatin levels. Western blot showed decreased PTEN level in the resistant cell… (full text at CIViC) PMID 15790433 · Lee et al., 2005 · Open in CIViC	civic
Dactolisib + Lapatinib + TrastuzumabCombination	HER2-Positive Breast CarcinomaALIAS	Predictive	D	Supports Sensitivity Response	2	submitted	EID8280 In a preclinical study, efficacy of NVP-BEZ235 (dactolisib), lapatinib, and trastuzumab combination therapy was evaluated in vitro against HER2 amplified breast cancer cell line BT474 with shRNA-induc… (full text at CIViC) PMID 19010894 · Eichhorn et al., 2008 · Open in CIViC	civic
Docetaxel	Malignant Gastric Neoplasm	Predictive	D	Supports Resistance	2	accepted	EID11064 SGC020 was a gastric PDGCX mouse model established from a gastric cancer patient, with a PTEN exon 2-6 gene deletion resulting in undetectable PTEN protein expression. The chemotherapy Taxotere was gi… (full text at CIViC) PMID 24088382 · Li et al., 2013 · Open in CIViC	civic
Everolimus	Bladder Carcinoma	Predictive	B	Supports Resistance	4	accepted	EID644 PTEN loss is associated with reduced response to mTOR inhibitors in patients with bladder cancer. PMID 23989949 · Seront et al., 2013 · Open in CIViC	civic
〃	HER2-Positive Breast CarcinomaALIAS	Predictive	B	Supports Sensitivity Response	4	accepted	EID1297 Archival tumor samples from 549 patients from the BOLERO-1 and -3 trials were analyzed for alterations in the PI3K pathway using next-generation sequencing, immunohistochemistry (IHC) and Sanger seque… (full text at CIViC) PMID 27091708 · André et al., 2016 · Open in CIViC	civic
〃	Malignant NeoplasmALIAS	Predictive	B	Does Not Support Sensitivity Response	3	accepted	EID5840 In a single-arm, open label phase 2 trial in PIK3CA amplified/mutated and/or PTEN loss encompassing 10 patients, no objective responses were observed but a stable disease response in 4 patients, resul… (full text at CIViC) PMID 28330462 · Kim et al., 2017 · Open in CIViC	civic
Everolimus + MTOR Kinase Inhibitor PP242Substitutes	Malignant Breast Neoplasm	Predictive	D	Does Not Support Sensitivity Response	3	accepted	EID1611 In a panel of 31 breast cancer cell lines, 11 had loss of PTEN function. Cells were tested for sensitivity to mTORC1 inhibitor everolimus and mTORC1/2 inhibitor PP242, and no significant correlation w… (full text at CIViC) PMID 21358673 · Weigelt et al., 2011 · Open in CIViC	civic
Ipatasertib	Malignant Prostate Neoplasm	Predictive	B	Supports Sensitivity Response	4	submitted	EID8675 Multicenter, international, phase Ib/II trial evaluating ipatasertib 400 mg, ipatasertib 200 mg, or placebo, with abiraterone 1,000 mg orally. Combined blockade with abiraterone and ipatasertib showed… (full text at CIViC) PMID 30037818 · de Bono et al., 2019 · Open in CIViC	civic
〃	Malignant Prostate Neoplasm	Predictive	B	Supports Sensitivity Response	4	submitted	EID10876 Phase 3 trial compared ipatasertib plus abiraterone and prednisolone or placebo plus abiraterone and prednisolone for patients with castration resistant prostate cancer. Primary endpoint was radiograp… (full text at CIViC) PMID 34246347 · Sweeney et al., 2021 · Open in CIViC	civic
Pembrolizumab	Uterus LeiomyosarcomaUNRESOLVED	Predictive	C	Supports Resistance	3	submitted	EID12145 A treatment-naive patient with uterine leiomyosarcoma was treated with pembrolizumab monotherapy as part of the phase II KEYNOTE-028 trial. The patient showed a near-complete response, with the tumour… (full text at CIViC) PMID 28228279 · George et al., 2017 · Open in CIViC	civic
PI-103	HER2-Positive Breast CarcinomaALIAS	Predictive	D	Supports Sensitivity Response	1	accepted	EID8012 As part of a preclinical study, the efficacy of PI-103 was evaluated for several cell lines of breast cancer. Sensitivity and resistance was categorized as less than and more than an IC50 of 1umol/L, … (full text at CIViC) PMID 20453058 · O'Brien et al., 2010 · Open in CIViC	civic
PI3Ka/Di	Malignant Breast Neoplasm	Predictive	D	Supports Resistance	1	submitted	EID8021 As part of a preclinical study, the efficacy of PI3KA/Di—a selective inhibitor for the α and δ subunits of class I PI3K—was evaluated for several cell lines of breast cancer. Sensitivity and resistanc… (full text at CIViC) PMID 20453058 · O'Brien et al., 2010 · Open in CIViC	civic
〃	HER2-Positive Breast CarcinomaALIAS	Predictive	D	Supports Resistance	1	accepted	EID8022 As part of a preclinical study, the efficacy of PI3KA/Di—a selective inhibitor for the α and δ subunits of class I PI3K—was evaluated for several cell lines of breast cancer. Sensitivity and resistanc… (full text at CIViC) PMID 20453058 · O'Brien et al., 2010 · Open in CIViC	civic
PI3Kbeta Inhibitor AZD8186	Malignant Breast Neoplasm	Predictive	D	Supports Sensitivity Response	2	accepted	EID711 Breast and prostate cancer cell lines responsive to AZD8186 were enriched for PTEN deficiency. PMID 25398829 · Hancox et al., 2015 · Open in CIViC	civic
Pictilisib	HER2-Positive Breast CarcinomaALIAS	Predictive	D	Supports Sensitivity Response	3	accepted	EID2045 This preclinical study tested the efficacy of GDC-0941, a selective inhibitor of class I PI3K, on several cell lines of breast cancer. Sensitivity and resistance was categorized as less than and more … (full text at CIViC) PMID 20453058 · O'Brien et al., 2010 · Open in CIViC	civic
〃	Malignant Breast Neoplasm	Predictive	D	Does Not Support Sensitivity Response	2	accepted	EID2074 This preclinical study tested the efficacy of GDC-0941, a selective inhibitor of class I PI3K, on several cell lines of breast cancer. Sensitivity and resistance was categorized as less than and more … (full text at CIViC) PMID 20453058 · O'Brien et al., 2010 · Open in CIViC	civic
Temsirolimus	Malignant Prostate Neoplasm	Predictive	D	Supports Sensitivity Response	4	accepted	EID507 In prostate cancer xenographs, PTEN null tumors had a significant decrease in cell size and proliferation when treated with Temsirolimus (CCI-779). PMID 11504908 · Neshat et al., 2001 · Open in CIViC	civic
〃	Malignant Endometrial NeoplasmCURATED_BROADER	Predictive	D	Supports Sensitivity Response	3	accepted	EID1614 A panel of 24 endometroid endometrial cancer (EEC) cell lines was characterized for mutations and 18 cell lines were found to have mutations in PTEN or absence of expression. Cell lines were assessed … (full text at CIViC) PMID 23674493 · Weigelt et al., 2013 · Open in CIViC	civic
Ridaforolimus + TemsirolimusSubstitutes	Malignant Endometrial NeoplasmCURATED_BROADER	Predictive	B	Does Not Support Resistance	3	accepted	EID893 94 endometrial cancer samples of women who had been treated with single agent mTOR inhibitors temsirolimus or ridaforolimus were retrospectively analyzed. No predictive biomarkers were identified, inc… (full text at CIViC) PMID 24166148 · Mackay et al., 2014 · Open in CIViC	civic
Trastuzumab	HER2-Positive Breast CarcinomaALIAS	Predictive	B	Supports Resistance	3	accepted	EID1385 A subgroup of HER2-positive breast cancer patients that received first-line trastuzumab treatment were assessed for PTEN loss via IHC of FFPE samples. 46 samples showed PTEN loss while 41 did not, and… (full text at CIViC) PMID 20813970 · Esteva et al., 2010 · Open in CIViC	civic
〃	HER2-Positive Breast CarcinomaALIAS	Predictive	B	Does Not Support Resistance	3	accepted	EID1386 While some reports indicate PTEN loss is associated with resistance to trastuzumab, in a subgroup of HER2 breast cancer FFPE samples from patients receiving trastuzumab as later line therapy (second o… (full text at CIViC) PMID 20813970 · Esteva et al., 2010 · Open in CIViC	civic
〃	HER2-Positive Breast CarcinomaALIAS	Predictive	B	Supports Resistance	2	accepted	EID2035 In a retrospective study of 111 HER2-positive metastatic breast cancer patients treated with trastuzumab-based therapy, PTEN loss (as measured by IHC) was associated with shorter survival as measured … (full text at CIViC) PMID 21594665 · Razis et al., 2011 · Open in CIViC	civic
〃	Malignant Breast Neoplasm	Predictive	B	Supports Resistance	2	accepted	EID2043 In a retrospective study of 182 metastatic breast cancer patients of mixed HER2 status treated with trastuzumab-based therapy, PTEN loss (as measured by IHC) was associated with a higher risk of death… (full text at CIViC) PMID 21594665 · Razis et al., 2011 · Open in CIViC	civic
〃	Malignant Breast Neoplasm	Predictive	B	Supports Resistance	1	accepted	EID645 PTEN loss is associated with loss of sensitivity to the HER2-antibody trastuzumab in breast cancer in smaller trials, a phase III trial (NCCTG N9831) did not show an effect of PTEN on disease-free sur… (full text at CIViC) PMID 24387334 · Dillon et al., 2014 · Open in CIViC	civic
〃	HER2-Positive Breast CarcinomaALIAS	Predictive	D	Supports Resistance	2	accepted	EID1383 A large-scale RNAi genetic sereen in HER2 overexpressing breast cancer cell line BT-474 was performed to discover genes whose loss induced trastuzumab resistance. The most prominently enriched gene in… (full text at CIViC) PMID 17936563 · Berns et al., 2007 · Open in CIViC	civic
Trastuzumab Emtansine	HER2-Positive Breast CarcinomaALIAS	Predictive	B	Does Not Support Resistance	3	accepted	EID8706 In a phase 3 clinical trial (NCT00829166), metastatic HER-2 amplified breast cancer patients whose tumors had decreased, slightly decreased, or absent PTEN expression (assessed by IHC) treated with ad… (full text at CIViC) PMID 26920887 · Baselga et al., 2016 · Open in CIViC	civic
Lapatinib + TrastuzumabSubstitutes	Gastric Adenocarcinoma	Predictive	B	Supports Resistance	2	accepted	EID864 In 48 patients with advanced gastric cancer, retrospectively analyzed for PTEN expression using IHC, PTEN loss was associated with a shorter duration of response (median 4.2 vs. 6.1 months, p = 0.04) … (full text at CIViC) PMID 25300346 · Zhang et al., 2015 · Open in CIViC	civic
PI3K/BET Inhibitor LY294002 + TrastuzumabCombination	HER2-Positive Breast CarcinomaALIAS	Predictive	D	Supports Sensitivity Response	3	accepted	EID1455 Knockdown of PTEN in trastuzumab sensitive HER2 breast cancer BT474 cells induced trastuzumab resistance. PTEN null cells treated with PI3K inhibitor LY294002 also did not show substantial inhibition,… (full text at CIViC) PMID 15324695 · Nagata et al., 2004 · Open in CIViC	civic

PTEN Mutation2
(predisposing)	Obsolete PTEN Hamartoma Tumor SyndromeUNRESOLVED	Predisposing	B	Supports Predisposition	3	submitted	EID9751 Out of 146 participants with PTEN hamartoma tumour syndrome (PHTS), it was determined that genotype-phenotype correlations are a poor indicator of cancer risks when assessing causative PTEN germline m… (full text at CIViC) PMID 23335809 · Bubien et al., 2013 · Open in CIViC	civic
(diagnostic)	GlioblastomaCURATED_BROADER	Diagnostic	C	Supports Positive	2	accepted	EID1931 Rasheed et al. identified that PTEN mutations occur with significantly greater frequency in adults with high-grade gliomas (42 adult glioblastoma multiforme and 13 adult anaplastic astrocytoma) compar… (full text at CIViC) PMID 9331072 · Rasheed et al., 1997 · Open in CIViC	civic