Cancer Family
Reproductive System Neoplasm
CI-CAN-00000338Explore in graph →
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Cancer Family
CI-CAN-00000338Explore in graph →
Variants & evidence
349 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 |
|---|---|---|---|---|---|---|---|---|
| PTEN Loss1 | ||||||||
| Ridaforolimus + TemsirolimusSubstitutes | Malignant Endometrial NeoplasmCURATED_BROADER | 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 |
| PTEN Mutation2 | ||||||||
| 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 |
| Alpelisib + Enzalutamide + PI3Kbeta Inhibitor AZD8186Combination | Prostate Adenocarcinoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1522Castrated mice bearing androgen-sensitive human prostate adenocarcinomas (LNCaP tumors) were treated with PI3K inhibitors (AZD8186, BYL719) and an androgen receptor inhibitor (MDV3100). Mice treated … (full text at CIViC) PMID 25544636 · Schwartz et al., 2015 · Open in CIViC | civic |
| RAD51B Mutation1 | ||||||||
| Olaparib | Castration-Resistant Prostate Carcinoma | Predictive | A | Supports Sensitivity Response | 2 | accepted | EID11212This randomized, open-label, phase 3 trial evaluated the PARP inhibitor olaparib in 387 men with metastatic castration-resistant prostate cancer (mCRPC) who had disease progression while receiving a n… (full text at CIViC) PMID 32343890 · de Bono et al., 2020 · Open in CIViC | civic |
| RAD51C Mutation1 | ||||||||
| Olaparib | Castration-Resistant Prostate Carcinoma | Predictive | A | Supports Sensitivity Response | 1 | submitted | EID11213This randomized, open-label, phase 3 trial evaluated the PARP inhibitor olaparib in 387 men with metastatic castration-resistant prostate cancer (mCRPC) who had disease progression while receiving a n… (full text at CIViC) PMID 32343890 · de Bono et al., 2020 · Open in CIViC | civic |
| RAD51D Mutation1 | ||||||||
| Olaparib | Castration-Resistant Prostate Carcinoma | Predictive | A | Supports Sensitivity Response | 2 | accepted | EID11214This randomized, open-label, phase 3 trial evaluated the PARP inhibitor olaparib in 387 men with metastatic castration-resistant prostate cancer (mCRPC) who had disease progression while receiving a n… (full text at CIViC) PMID 32343890 · de Bono et al., 2020 · Open in CIViC | civic |
| RAD54L Mutation1 | ||||||||
| Olaparib | Castration-Resistant Prostate Carcinoma | Predictive | A | Supports Sensitivity Response | 3 | accepted | EID11207This randomized, open-label, phase 3 trial evaluated the PARP inhibitor olaparib in 387 men with metastatic castration-resistant prostate cancer (mCRPC) who had disease progression while receiving a n… (full text at CIViC) PMID 32343890 · de Bono et al., 2020 · 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 |
| SMAD4 LOSS1 | ||||||||
| (prognostic) | Malignant Prostate Neoplasm | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID6452One of the goals of this study was to find the local failure rates in tumors for patients with Prostate Cancer. The failure rates for the first and second year for patients who lost SMAD4 expression w… (full text at CIViC) PMID 29329157 · Herman et al., 2018 · Open in CIViC | civic |
| SMAD4 Underexpression1 | ||||||||
| (prognostic) | Malignant Prostate Neoplasm | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID6462The under expression of SMAD4 resulted in a higher Gleason score and a higher level of preoperative prostate specific antigen (PSA). It is considered for low levels of PSA to be normal. Patients with … (full text at CIViC) PMID 24272204 · Zhang et al., 2014 · 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 |
| STK11 Underexpression1 | ||||||||
| SB202190 | Malignant Prostate Neoplasm | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID751STK11-deficient cells were sensitive to treatment with MAPK11 inhibitor SB202190. PMID 26391455 · Grossi et al., 2015 · 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 |
| SULT1E1 SNP1 | ||||||||
| Abiraterone Acetate | Malignant Prostate Neoplasm | Predictive | B | Supports Resistance | 2 | rejected | EID131268 Caucasian men with metastatic castration resistant prostate cancer underwent treatment with abiraterone acetate. 832 single nucleotide polymorphisms (SNPs, Illumina OmniExpress) of 61 candidate gen… (full text at CIViC) PMID 27150425 · Agarwal et al., 2016 · 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 |
| TACSTD2 Overexpression1 | ||||||||
| (prognostic) | Malignant Prostate Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID7837Trop2 (TACSTD2) levels were evaluated from 234 patients who underwent radical prostatectomy. These levels were found to be significantly correlated with recurrence (P=0.01), with 58 patients displayin… (full text at CIViC) PMID 31932422 · Hsu et al., 2020 · Open in CIViC | civic |
| TGFBR3 TGFBR31 | ||||||||
| (diagnostic) | Malignant Prostate Neoplasm | Diagnostic | B | Supports Positive | 3 | submitted | EID7225Genes not previously reported to be significantly mutated in PCa, such as cell division cycle 27 homolog (Saccharomyces cerevisiae) (CDC27), myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), lysine… (full text at CIViC) PMID 23265383 · Lindberg et al., 2013 · 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 |
| ERG Fusion1 | ||||||||
| (diagnostic) | Prostate Carcinoma | Diagnostic | B | Supports Positive | 3 | accepted | EID476TMPRSS2/ERG gene fusion was observed in 23 of 29 (79%) of prostate carcinoma samples, and 90% of ERG expression positive prostate carcinoma samples. PMID 16254181 · Tomlins et al., 2005 · Open in CIViC | civic |
| ETV1 Fusion1 | ||||||||
| (diagnostic) | Malignant Prostate Neoplasm | Diagnostic | C | Supports Positive | 4 | submitted | EID7644TMPRSS2-ETV1 fusions are recurrent in prostate cancers. PMID 16254181 · Tomlins et al., 2005 · Open in CIViC | civic |
| TMPRSS2 TMPRSS2::ERG1 | ||||||||
| (diagnostic) | Malignant Prostate Neoplasm | Diagnostic | B | Supports Positive | 4 | rejected | EID1755Non-invasive detection of multiple TMPRSS2:ERG fusion mutations in urine samples of patients with prostate cancer. Rapid 60 minute screening using DNA ligase and isothermal amplification to detect m… (full text at CIViC) PMID 27865106 · Koo et al., 2017 · 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 |
| TSPYL1 P62S2 | ||||||||
| Abiraterone | Malignant Prostate Neoplasm | Predictive | D | Does Not Support Sensitivity Response | 2 | submitted | EID8947Prostate cancer cell lines over-expressing TSPYL1 P62S had similar levels of cell proliferation as control cells normally expressing TSPYL1 wildtype when treated with abiraterone. Authors note that TS… (full text at CIViC) PMID 29027195 · Qin et al., 2018 · Open in CIViC | civic |
| Abiraterone + PrednisoneCombination | Malignant Prostate Neoplasm | Predictive | B | Does Not Support Sensitivity Response | 4 | submitted | EID5861In a prospective clinical trial, 87 metastatic castration resistant prostate cancer (mCRPC) patients treated with abiraterone acetate/prednisone (AA/P) showed that TSPYL1 R62S (NC_000006.11:g.11660081… (full text at CIViC) PMID 29027195 · Qin et al., 2018 · Open in CIViC | civic |
| TYMS Underexpression1 | ||||||||
| Pemetrexed | Malignant Prostate Neoplasm | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID908Case report of a patient with metastatic prostate cancer and underexpression of TYMS who showed a nonspecified response to pemetrexed for at least 4 months. PMID 24782778 · Russell et al., 2014 · 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 20 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.