Cancer Family
Malignant Genitourinary System Neoplasm
CI-CAN-00000233Explore in graph →
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- C156484
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Cancer Family
CI-CAN-00000233Explore in graph →
Variants & evidence
660 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 |
|---|---|---|---|---|---|---|---|---|
| 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 |
| 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 |
| Deletion + TP53 Mutation1 | ||||||||
| (prognostic) | Kidney Wilms TumorALIAS | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID1283540 diffuse anaplasia in Wilms tumours (DAWT) samples were tested using copy number (n = 32) and gene expression (n = 36) arrays. 22 had TP53 mutations and 20 of these also had 17p loss. An increased r… (full text at CIViC) PMID 25313908 · Maschietto et al., 2014 · Open in CIViC | civic |
| TP53 Overexpression3 | ||||||||
| (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 |
| 〃 | Kidney Wilms TumorALIAS | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID894544 archival FFPE samples from confirmed cases of Wilms tumor with mean age 3 years 2 months, and taken from the most histologically aggressive parts of each tumor, were stained with p53 monoclonal ant… (full text at CIViC) PMID 21525573 · Jadali et al., 2011 · Open in CIViC | civic |
| Carboplatin + CisplatinSubstitutes | Malignant Ovarian Neoplasm | Predictive | ||||||
| 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 |
| TSC1 Frameshift Truncation1 | ||||||||
| Everolimus | Invasive Bladder Urothelial CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID320A patient with metastatic bladder cancer that responded well to the mTOR inhibitor everolimus was shown to harbor a TSC1 frameshift truncation mutation (c.1907_1908del, p.Glu636fs) and a nonsense NF2 … (full text at CIViC) PMID 22923433 · Iyer et al., 2012 · Open in CIViC | civic |
| TSC1 Loss-of-function3 | ||||||||
| Everolimus | Bladder Carcinoma | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID155Tumors (n=14) expressing TSC1 mutations (5/14) show notably more sensitivity to everolimus than their wild-type counterparts (9/14). A dramatic response was observed in a patient with combination of L… (full text at CIViC) PMID 22923433 · Iyer et al., 2012 · Open in CIViC | civic |
| MTOR Inhibitor | Renal Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID5837In a retrospective study of 79 RCC patients treated with diverse rapalogs (mTOR inhibitors) inactivating TSC1 and TSC2-mutations and activating MTOR-mutations were significantly more common in respons… (full text at CIViC) PMID 26831717 · Kwiatkowski et al., 2016 · Open in CIViC | civic |
| 〃 | Renal Cell CarcinomaCURATED_BROADER | Predictive | ||||||
| TSC2 Loss-of-function1 | ||||||||
| MTOR Inhibitor | Renal Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID5838In a retrospective study of 79 RCC patients treated with diverse rapalogs (mTOR inhibitors) inactivating TSC1 and TSC2-mutations and activating MTOR-mutations were significantly more common in respons… (full text at CIViC) PMID 26831717 · Kwiatkowski et al., 2016 · 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 |
Data updated 15 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.
| 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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| 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 |
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| C |
| Supports Sensitivity Response |
| 2 |
| submitted |
EID6053In 5 patients with renal cell carcinoma who achieved durable disease control with mTOR inhibitors (median duration, 28 months), Custom target capture and ultradeep sequencing was used to identify alt… (full text at CIViC) PMID 24622468 · Voss et al., 2014 · Open in CIViC |
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