Subtype
Malignant Female Reproductive System Neoplasm
CI-CAN-00003157Explore in graph →
Loading cancer entity…
Subtype
CI-CAN-00003157Explore in graph →
Variants & evidence
197 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| PAX8 Expression1 | ||||||||
| (diagnostic) | Malignant Female Reproductive System NeoplasmALIAS | Diagnostic | A | Supports Positive | 4 | accepted | EID1716The authors explored the viability of PAX8 expression as a biomarker for differentiating mullerian from non-mullerian tumors. 74 tumors (37 Mullerian/37 non-Mullerian) were examined for PAX8 expressio… (full text at CIViC) PMID 24800185 · Heidarpour et al., 2014 · Open in CIViC | civic |
| PIK3CA Activation mutation1 | ||||||||
| (oncogenic) | Ovarian Clear Cell Adenocarcinoma | Oncogenic | B | Supports Oncogenicity | 3 | submitted | EID13136Ovarian clear cell carcinoma is an aggressive and relatively chemotherapy-resistant form of ovarian cancer with a molecular landscape distinct from that of the more common epithelial subtypes. Earlier… (full text at CIViC) PMID 19349352 · Kuo et al., 2009 · Open in CIViC | civic |
| PIK3CA Amplification1 | ||||||||
| Pictilisib | Ovarian CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID756One platinum-refractory epithelial ovarian cancer patient with PTEN loss and PIK3CA amplification had a partial response on treatment with PI3K inhibitor pictilisib (GDC-0941) in this phase 1 study. A… (full text at CIViC) PMID 25370471 · Sarker et al., 2015 · Open in CIViC | civic |
| PIK3CA E545K3 | ||||||||
| Cisplatin | Malignant Cervical Neoplasm | Predictive | D | Supports Resistance | 3 | accepted | EID2985Authors tested various cervical cancer cell lines (CaSki, SiHa and HeLa) for their responses to cisplatin, radiation therapy, and GDC-0941. CaSki cells that are heterozygous for the PIK3CA-E545K mutat… (full text at CIViC) PMID 27489350 · Arjumand et al., 2016 · Open in CIViC | civic |
| Cisplatin + Ionizing RadiotherapySequential | Malignant Cervical Neoplasm | Predictive | D | Supports Resistance | 3 | accepted | EID8112Cervical cancer cell lines were treated with 1uM cisplatin followed by 1-6Gy ionizing radiation (IR). CaSki cells with PIK3CA E545K mutation show resistance to cisplatin plus IR when compared with HeL… (full text at CIViC) PMID 27489350 · Arjumand et al., 2016 · Open in CIViC | civic |
| Cisplatin + PictilisibCombination | Cervical Carcinoma | |||||||
| PIK3CA Mutation2 | ||||||||
| Pictilisib | Malignant Endometrial NeoplasmCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1616A panel of 24 endometrioid endometrial cancer (EEC) cell lines was characterized for a set of mutations and sensitivity to pan PI3K class I inhibitor GDC-0941 (pictilisib) was assessed. EEC cell lines… (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 Sensitivity Response | 3 | accepted | EID89294 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 |
| PMS2 R315*1 | ||||||||
| (oncogenic) | Malignant Endometrial NeoplasmCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1832This variant (R315*), identified in a case of microsatellite-unstable endometrial cancer, was confirmed to be somatic in a 69 year-old female patient with suspected Lynch Syndrome (LS). The patient wa… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC | civic |
| POLE Mutation1 | ||||||||
| Pembrolizumab | Malignant Endometrial NeoplasmCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1862Case report of a patient with endometrial cancer and exceptional response to pembrolizumab (maintained at 14 months). POLE mutations V411L (exonuclease domain) and R114* were identified in the primary… (full text at CIViC) PMID 27159395 · Mehnert et al., 2016 · Open in CIViC | civic |
| POLE P286R1 | ||||||||
| (prognostic) | Malignant Endometrial NeoplasmCURATED_BROADER | Prognostic | A | Supports Better Outcome | 5 | submitted | EID13113In the PORTEC-3 trial cohort, POLE-ultramutated (POLEmut) endometrial carcinomas had a 98% five-year recurrence-free survival, independent of the adjuvant treatment arm. Variant P286R is the most comm… (full text at CIViC) PMID 32749941 · León-Castillo et al., 2020 · Open in CIViC | civic |
| POLE R1233*1 | ||||||||
| (oncogenic) | Endometrial AdenocarcinomaCURATED_BROADER | Oncogenic | C | Does Not Support Oncogenicity | 2 | submitted | EID12525Studies submitted to cBioPortal (including 164 TCGA studies) were evaluated for POLE variants co-occurring with features of POLE-mutated tumors and co-occurring B2M variants. A single individual with … (full text at CIViC) PMID 29320758 · Voutsadakis, 2018 · Open in CIViC | civic |
| BRCA2 Deletion + PTEN Deletion + TP53 DeletionBRCA2TP53PTEN1 | ||||||||
| Olaparib | Uterine Corpus LeiomyosarcomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID11319In this case study, the patient, a 54-year-old African woman, presented with pelvic pain in May 2019 and was found to have a solid heterogeneous pelvic mass with areas of fluid and hemorrhagic density… (full text at CIViC) PMID 33970096 · Pan et al., 2021 · Open in CIViC | civic |
| PTEN Loss3 | ||||||||
| Cisplatin | Malignant Ovarian Neoplasm | Predictive | D | Supports Resistance | 2 | accepted | EID1492A 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 |
| Temsirolimus | Malignant Endometrial NeoplasmCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1614A 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 Neoplasm | |||||||
| PTEN Mutation1 | ||||||||
| Everolimus | Endometrial Carcinoma | Predictive | B | Does Not Support Sensitivity Response | 3 | accepted | EID1232Tumors from 35 patients (12 with partial response or stable disease) with advanced endometrial carcinoma were assessed for PTEN mutational status, revealing 12 tumors with non-identical PTEN gene muta… (full text at CIViC) PMID 23238879 · Trédan et al., 2013 · Open in CIViC | civic |
| RIT1 OVEREXPRESSION1 | ||||||||
| (prognostic) | Malignant Endometrial NeoplasmCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID741After preliminary studies in cell lines, GEO datasets and fresh frozen tissues, RIT1 expression was determined in 257 tumors and 31 normal tissues. Elevated expression of RIT1 was correlated with poor… (full text at CIViC) PMID 26617739 · Xu et al., 2015 · Open in CIViC | civic |
| NRG1 Fusion2 | ||||||||
| Afatinib | Mucinous Adenocarcinoma | Predictive | C | Supports Sensitivity Response | 3 | rejected | EID7489A 42 year old nonsmoker with metastatic lung adenocarcinoma that was wild-type for EGFR, KRAS, ROS1, and ALK, was found to have re-arranged NRG1. Treatment with afatanib resulted in rapid symptomatic … (full text at CIViC) PMID 28502724 · Gay et al., 2017 · Open in CIViC | civic |
| Erlotinib + LumretuzumabCombination | Mucinous Adenocarcinoma | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID7495Two patients with EGFR/KRAS/ALK wild-type invasive mucinous adenocarcinoma of the lung were found to have SLC3A2-NRG1 fusions. Both patients were treated with combination lumretuzumab, an anti-HER3 mo… (full text at CIViC) PMID 30268483 · Kim et al., 2018 · Open in CIViC | civic |
| SMARCA4 Loss1 | ||||||||
| Abemaciclib + Palbociclib + RibociclibSubstitutes | Ovarian Small Cell Carcinoma | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID7154Inactivating mutations in SMARCA4 underlie small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). The authors show that loss of SMARCA4 leads to downregulation of Cyclin D1 and deficient cell… (full text at CIViC) PMID 30718512 · Xue et al., 2019 · Open in CIViC | civic |
| SPHK1 OVEREXPRESSION1 | ||||||||
| (prognostic) | Malignant Cervical Neoplasm | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID830SPHK1 protein expression was assessed in 287 cervical cancer and 5 normal cervical tissue samples using IHC. Univariate analysis for OS showed SPHK1 expression (p = 0.033; Figure 1C), tumor size (p = … (full text at CIViC) PMID 26311741 · Kim et al., 2015 · Open in CIViC | civic |
| STAT1 Overexpression1 | ||||||||
| Cisplatin + PicoplatinSubstitutes | Malignant Ovarian Neoplasm | Predictive | D | Supports Resistance | 3 | submitted | EID7951Researchers calculated Spearman rank correlation coefficients for each gene vs proliferation rate and platinum drug sensitivity in 14 ovarian cancer cell lines. STAT1 expression was found to be highly… (full text at CIViC) PMID 15726096 · Roberts et al., 2005 · Open in CIViC | civic |
| STMN1 EXPRESSION1 | ||||||||
| Paclitaxel | Endometrial Carcinoma | Predictive | B | Supports Resistance | 3 | accepted | EID85533 patients were retrospectively analyzed for Stathmin expression by IHC. High protein expression was correlated with poor response to paclitaxel but not other chemotherapy. The authors supported this… (full text at CIViC) PMID 24587245 · Werner et al., 2014 · Open in CIViC | civic |
| SYK OVEREXPRESSION1 | ||||||||
| Paclitaxel | Malignant Ovarian Neoplasm | Predictive | D | Supports Resistance | 3 | accepted | EID752Overexpression and high p-SYK/SYK ratio were associated with resistance to paclitaxel. Inhibition of SYK with R406 resensitized cell lines to paclitaxel. PMID 26096845 · Yu et al., 2015 · Open in CIViC | civic |
| High2 | ||||||||
| (prognostic) | Malignant Ovarian Neoplasm | Prognostic | B | Supports Better Outcome | 4 | submitted | EID12970This study examined ovarian cancer patients from The Cancer Genomics Atlas totaling 432 patient profiles. Patients were grouped into low and high tumor mutational burden (TMB) groups to examine the pr… (full text at CIViC) PMID 33189611 · Fan et al., 2020 · Open in CIViC | civic |
| Carboplatin + PaclitaxelCombination | Ovarian Serous AdenocarcinomaALIAS | Predictive | C | Supports Resistance | 3 | submitted | EID13010In a retrospective cohort of 16 patients treated with primary debulking surgery followed by platinum-taxane chemotherapy (carboplatin and paclitaxel), patients classified as platinum-resistant exhibit… (full text at CIViC) PMID 35093146 · Yang et al., 2022 · Open in CIViC | civic |
| TOP1 EXPRESSION1 | ||||||||
| Carboplatin + Cyclophosphamide + TopotecanCombination | Malignant Ovarian Neoplasm | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID910Shorter progression free survival was observed in patients with low expression (IHC) of topoisomerase 1 in 16 patients with relapsed or persistent ovarian or peritoneal carcinoma after treatment with … (full text at CIViC) PMID 19648970 · Litzow et al., 2010 · Open in CIViC | civic |
| TP53 ALTERATION2 | ||||||||
| (prognostic) | Malignant Ovarian Neoplasm | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID3014In a study of invasive ovarian carcinoma patients who had undergone surgery, the p53 alteration variant was defined as p53 mutation or p53 overexpression by immunostain (>10% positive). Patients with … (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| Carboplatin + CisplatinSubstitutes | Malignant Ovarian Neoplasm | Predictive | B | Supports Resistance | 4 | accepted | EID2771In a group of patients with invasive ovarian carcinoma who had undergone surgery, a subset of 74 patients treated with platinum based chemotherapy were assessed for p53 alteration (p53 mutation or p5… (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| TP53 CONSERVED DOMAIN MUT1 | ||||||||
| (prognostic) | Malignant Ovarian Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID2993Patients with conserved domain p53 mutation (n=61) were compared with those with wild type or non-conserved domain p53 mutation (n=117) in a cohort of 178 invasive ovarian carcinoma patients who had u… (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| TP53 Mutation2 | ||||||||
| Doxorubicin + EprenetapoptCombination | Malignant Ovarian Neoplasm | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID12011This study examined the combined effects of APR-246 and doxorubicin in doxorubicin-resistant ovarian cancer cell lines. It revealed a decrease in IC50 value for doxorubicin from 0.95±0.11 μM to 0.12±0… (full text at CIViC) PMID 26086967 · Mohell et al., 2015 · Open in CIViC | civic |
| Cisplatin + EprenetapoptCombination | Malignant Ovarian Neoplasm | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID12010The combination effect of APR-246 and cisplatin was studied in cisplatin-resistant ovarian cancer cell lines. A decrease in IC50 value from 52±11 to 3.2±0.8 μM (p <0.05) for cisplatin was recorded in… (full text at CIViC) PMID 26086967 · Mohell et al., 2015 · Open in CIViC | civic |
| TP53 Overexpression2 | ||||||||
| (prognostic) | Malignant Ovarian Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID2697p53 overexpression (>10% positive stained nuclei) was found in 110 cases from a 178 patient cohort with invasive ovarian carcinoma who had undergone surgery. Overexpression of p53 was correlated with … (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| Carboplatin + CisplatinSubstitutes | Malignant Ovarian Neoplasm | Predictive | B | Supports Resistance | 3 | accepted | EID3013In a study involving patients with invasive ovarian carcinoma who had undergone surgery, a subset of 73 patients were classified via response to platinum-based chemotherapy as sensitive or resistant/r… (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| TP53 P72R1 | ||||||||
| (prognostic) | Malignant Cervical Neoplasm | Prognostic | B | Does Not Support Poor Outcome | 2 | accepted | EID1304In a relatively small meta-analysis of 119 women with cervical cancer and 127 controls, associations with homozygosity for arginine, and heterozygosity at this locus were both associated with odds rat… (full text at CIViC) PMID 11535556 · Klug et al., 2001 · Open in CIViC | civic |
| TP53 R175H1 | ||||||||
| (oncogenic) | Malignant Endometrial NeoplasmCURATED_BROADER | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID7429A preclinical study was testing the neomorphic effects of TP53-R175H mutation. Multiple human endometrial cancer KLE cell lines were categorized into different groups: Untransfected cells, Vector (ve… (full text at CIViC) PMID 19917135 · Dong et al., 2009 · Open in CIViC | civic |
| TP53 R213*1 | ||||||||
| (predisposing) | Salivary Gland Mucinous Adenocarcinoma | Predisposing | E | Supports Pathogenic | 3 | submitted | EID7321As seen in Figure 1, the R213* mutation is predominantly found in colorectal and breast cancers. The variant was described as being a frequent p53 nonsense mutation in melanoma, kidney chromophobe, es… (full text at CIViC) PMID 28249646 · Panaccione et al., 2017 · Open in CIViC | civic |
| TP53 R248Q1 | ||||||||
| Doxorubicin + Etoposide + PaclitaxelSequential | Malignant Ovarian Neoplasm | Predictive | D | Supports Resistance | 4 | submitted | EID7175Most common oncomorphic TP53 mutations are at positions R273, R248, R175, and Y220. Mutant R248Q confers chemoresistance to doxorubicin and paclitaxel. In vitro studies, cells with oncomorphic p53 de… (full text at CIViC) PMID 24065105 · Brachova et al., 2013 · Open in CIViC | civic |
| TP53 R273L1 | ||||||||
| Carboplatin + CisplatinSubstitutes | Malignant Ovarian Neoplasm | Predictive | C | Supports Resistance | — | accepted | EID2286Ovarian cancer patients with TP53 missense mutations were refractory to platinum-based chemotherapy (66% vs. 34% in wildtype, P=0.008) and had a shorter time to disease progression (n=54, P=0.037). A … (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| TP53 Y234C1 | ||||||||
| Carboplatin + CisplatinSubstitutes | Malignant Ovarian Neoplasm | Predictive | C | Supports Resistance | — | accepted | EID2745Ovarian cancer patients with TP53 missense mutations were refractory to platinum-based chemotherapy (66% vs. 34% in wildtype, P=0.008) and had a shorter time to disease progression (n=54, P=0.037). A … (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| NTRK1 Fusion1 | ||||||||
| Entrectinib | Malignant Ovarian Neoplasm | Predictive | C | Does Not Support Resistance | 2 | submitted | EID1174356-year-old women was diagnosed with a stage IV ovarian cancer. Debulking surgery, and chemotherapy was given for 10 months. However, disease recurred and at this time NGS was performed which detected… (full text at CIViC) PMID 35251641 · Endo et al., 2022 · Open in CIViC | civic |
| ALK Fusion1 | ||||||||
| Crizotinib | Vaginal SarcomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID6042Patient was 34-year-old woman with vaginal sarcoma, which was excised with positive surgical margins. Fluorescence in situ hybridization testing of her tumor revealed anaplastic lymphoma kinase gene … (full text at CIViC) PMID 26942346 · Forde et al., 2016 · Open in CIViC | civic |
| VEGFA Overexpression1 | ||||||||
| Bevacizumab + ErlotinibCombination | Malignant Ovarian Neoplasm | Predictive | B | Supports Resistance | 2 | submitted | EID7237This phase II trial evaluated the efficacy of bevacizumab+erlotinib in 40 platinum-resistant ovarian cancer patients. No evidence was found associating VEGFR-1 expression and any clinical parameters.… (full text at CIViC) PMID 21041183 · Chambers et al., 2010 · Open in CIViC | civic |
| VPS37A Underexpression1 | ||||||||
| Cetuximab | Malignant Ovarian Neoplasm | Predictive | D | Supports Resistance | 3 | accepted | EID1981Vps37A-deficient ovarian cancer cells become irresponsive to inhibition by the therapeutic antibody cetuximab in-vitro. PMID 22016507 · Wittinger et al., 2011 · Open in CIViC | civic |
| XRCC1 Q399R1 | ||||||||
| Carboplatin + CisplatinSubstitutes | Malignant Cervical Neoplasm | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID673The XRCC1 R399Q variant was correlated with increased response to platinum-based neoadjuvant chemotherapy in patients with cervical cancer. Tumor samples from 36 patients with Stage IB or IIA bulky (g… (full text at CIViC) PMID 16875718 · Chung et al., 2006 · Open in CIViC | civic |
| ZNF217 Overexpression1 | ||||||||
| (prognostic) | Malignant Ovarian Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID12207ZNF217 was overexpressed in 60% of ovarian tumour samples (26/44) as demonstrated by immunohistochemistry (IHC). Patients with ZNF217 expression had significantly shorter disease-free survival compare… (full text at CIViC) PMID 25031722 · Li et al., 2014 · Open in CIViC | civic |
Data updated 14 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.
| Predictive |
| D |
| Supports Sensitivity Response |
| 3 |
| accepted |
EID2984CaSki cells that are heterozygous for the PIK3CA-E545K mutation are more resistant to cisplatin or cisplatin plus radiation than either HeLa or SiHa cells that express only wild-type PIK3CA. Similarly… (full text at CIViC) PMID 27489350 · Arjumand et al., 2016 · Open in CIViC |
| civic |
| Predictive |
| B |
| Does Not Support Resistance |
| 3 |
| accepted |
EID89394 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 |