Cancer Family
Genitourinary System Neoplasm
CI-CAN-00000018Explore in graph →
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- C156482
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Cancer Family
CI-CAN-00000018Explore in graph →
Variants & evidence
684 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 |
|---|---|---|---|---|---|---|---|---|
| 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 Loss7 | ||||||||
| 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 |
| Everolimus | Bladder Carcinoma | Predictive | B | Supports Resistance | 4 | accepted | EID644PTEN loss is associated with reduced response to mTOR inhibitors in patients with bladder cancer. PMID 23989949 · Seront et al., 2013 · Open in CIViC | civic |
| Ipatasertib | Malignant Prostate Neoplasm | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID8675Multicenter, 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… | |
| 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 |
| RAD50 L1237F1 | ||||||||
| Checkpoint Kinase Inhibitor AZD7762 + IrinotecanCombination | Ureter Small Cell Neuroendocrine CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID5829A 51-year-old woman with an invasive small-cell cancer of the ureter showed a durable complete response at 3-years when treated with AZD7762 (an ATP-competitive checkpoint kinase inhibitor) and irinot… (full text at CIViC) PMID 24934408 · Al-Ahmadie et al., 2014 · 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 |
| RAF1 Amplification1 | ||||||||
| B-Raf/VEGFR-2 Inhibitor RAF265 + TrametinibCombination | Bladder Carcinoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID11767In this pre-clinical study, RAF inhibition and RAF inhibition in combination with MEK inhibition was tested in vivo in RAF1-amplified tumors (in both mice and PDX tumor models). The models were treate… (full text at CIViC) PMID 34554931 · Bekele et al., 2021 · Open in CIViC | civic |
| RB1 IVS20, A-G, -21 | ||||||||
| (prognostic) | Malignant Bladder NeoplasmALIAS | Prognostic | D | Supports N/A | 4 | submitted | EID7231We have used polyclonal anti-synthetic peptide serum to study the role of retinoblastoma gene (RB) inactivation in a variety of human tumor cell lines. Our analysis indicates that inactivation of the … (full text at CIViC) PMID 2181449 · Horowitz et al., 1990 · Open in CIViC | civic |
| RHEB Y35N1 | ||||||||
| Sirolimus | Malignant Kidney Neoplasm | Predictive | D | Supports Resistance | 3 | submitted | EID6340Analysis of cancer genome databases led to identification of a recurrent point mutation in RHEB (Y35N), reported in RCC and in several other cancers. Y35N RHEB mutation in ccRCC causes mTORC1 hyperact… (full text at CIViC) PMID 26255626 · Ghosh et al., 2015 · 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 |
| SDHB Mutation1 | ||||||||
| Metformin + VandetanibCombination | Hereditary Renal Cell Carcinoma | Predictive | B | Supports Sensitivity Response | 2 | submitted | EID7959Vandetanib in Combination With Metformin is tested in Phase II trial in People With HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell Carcinoma PMID 27325049 · Sidana et al., 2016 · Open in CIViC | civic |
| SETD2 Loss2 | ||||||||
| Anti-PD1 Monoclonal Antibody + ATR InhibitorCombination | Clear Cell Renal Cell Carcinoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12580In preclinical RCC models (n ≈ 5/group), Setd2 loss enhanced sensitivity to the ATR inhibitor VE822 (60 mg/kg orally, 5 days/week) and anti–PD-1 antibody (100 µg intraperitoneally, every 3 days) reduc… (full text at CIViC) PMID 37527013 · Liu et al., 2023 · Open in CIViC | civic |
| Akt Inhibitor MK2206 + PI3Kbeta Inhibitor AZD8186 + TGX221Substitutes | Clear Cell Renal Cell Carcinoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12581In clear cell RCC, SETD2 loss predicts sensitivity to PI3Kβ pathway inhibition: SETD2-deficient 786-0 and SETD2-mutant A498 cells treated with PI3Kβ inhibitors TGX221 or AZD8186 showed reduced viabili… (full text at CIViC) PMID 31695846 · Terzo et al., 2019 · 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 |
| SMARCB1 Loss3 | ||||||||
| (diagnostic) | Renal Medullary Carcinoma | Diagnostic | B | Supports Positive | 2 | accepted | EID11165In a retrospective analysis of 20 patients with renal medullary carcinoma, all patients had loss of SMARCB1 staining by IHC. FISH revealed 11 (55%) had a SMARCB1 translocation with loss of the second… (full text at CIViC) PMID 30980040 · Jia et al., 2019 · Open in CIViC | civic |
| 〃 | Renal Medullary Carcinoma | Diagnostic | B | Supports Positive | 2 | accepted | EID11167In a comparison of 6 renal medullary carcinomas (RMC) and 22 collecting duct carcinomas (CDC), all 6 RMC were negative for SMARCB1 by IHC whereas only 1 of 22 CDC lost SMARCB1 expressing, supporting S… (full text at CIViC) PMID 22686875 · Calderaro et al., 2012 · Open in CIViC | civic |
| 〃 | SMARCB1-Deficient Kidney Medullary CarcinomaALIAS | Diagnostic | B | |||||
| 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 |
| STAG2 Underexpression1 | ||||||||
| (prognostic) | Bladder Carcinoma | Prognostic | B | Supports Better Outcome | 2 | accepted | EID984Tumor samples from 125 patients with bladder cancer were assessed by IHC for STAG2 expression. STAG2-negativity was associated with lower histological grade (p = 0.009). Complete loss of STAG2 express… (full text at CIViC) PMID 26838030 · Qiao et al., 2016 · 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 |
| TERT Overexpression1 | ||||||||
| UO126 | Clear Cell Renal Cell Carcinoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID2900A total of 96 histopathologically confirmed RCC cases and corresponding normal tissues were subjected to hTERT gene expression using real-time PCR. Two RCC cell lines viz. ACHN and A498 were treated w… (full text at CIViC) PMID 28215740 · Pal et al., 2017 · Open in CIViC | civic |
| TERT Promoter Mutation1 | ||||||||
| (prognostic) | Bladder Urothelial Carcinoma | Prognostic | B | Supports Better Outcome | 4 | submitted | EID7968Patients with mutations at TERT promoter region of -124 and -146 of ATG showed poor survival in the absence but not in the presence of the variant allele of a common polymorphism with ID of rs2853669 … (full text at CIViC) PMID 24101484 · Rachakonda et al., 2013 · Open in CIViC | civic |
| TFE3 VCP::TFE31 | ||||||||
| (prognostic) | Renal Cell CarcinomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | rejected | EID10148This study evaluates 200 nephrectomy cases. Within the 200 cases, there are four cases that are Xp11.2 translocation renal cell carcinomas (RCC). Previous studies identified two stages (pediatric and … (full text at CIViC) PMID 34917511 · Ge et al., 2021 · Open in CIViC | civic |
| TFEB Amplification1 | ||||||||
| (prognostic) | Renal Cell Carcinoma with MiT Translocations | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID10625This manuscript is a study of 37 TFEB-altered tumors, 15 of which are associated with TFEB amplification at 6p21.1 and 22 of which are associated with TFEB-rearrangement. Previous literature had indic… (full text at CIViC) PMID 31600176 · Gupta et al., 2019 · 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 |
| High3 | ||||||||
| (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 |
| Immunotherapy | Urothelial Carcinoma | Predictive | ||||||
| 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 |
Data updated 22 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.
PMID 30037818 · de Bono et al., 2019 · Open in CIViC
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| 〃 | Malignant Prostate Neoplasm | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID10876Phase 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 |
| Temsirolimus | Malignant Prostate Neoplasm | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID507In 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 | 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 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 |
| Supports Positive |
| 2 |
| accepted |
EID11168In a retrospective analysis of 23 renal medullary carcinoma patients with tumor sample available for IHC staining, all exhibited a loss of SMARCB1 expression. Of 10 tumors analyzed by FISH, SMARCB1 g… (full text at CIViC) PMID 28558987 · Carlo et al., 2017 · Open in CIViC |
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| B |
| Supports Sensitivity Response |
| 3 |
| accepted |
EID13302This is a retrospective cohort study examining the association between tumour mutational burden (TMB) and clinical benefit from first-line single-arm immune checkpoint inhibitor (ICPI) therapy compare… (full text at CIViC) PMID 35977348 · Graf et al., 2022 · Open in CIViC |
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