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 |
|---|---|---|---|---|---|---|---|---|
| CDK12 Mutation2 | ||||||||
| Olaparib | Malignant Prostate Neoplasm | Predictive | B | Does Not Support Sensitivity Response | 4 | submitted | EID7473In a phase 2 trial, patients with metastatic castration-resistant prostate cancer harboring DNA damage repair (DDR) gene aberrations were treated with olaparib. In gene testing, samples from tumor tis… (full text at CIViC) | civic |
| Enzalutamide + TalazoparibCombination | Castration-Resistant Prostate Carcinoma | Predictive | A | Supports Sensitivity Response | 1 | submitted | EID11735This phase 3 study evaluated the PARP inhibitor talazoparib in combination with the androgen receptor inhibitor enzalutamide as a first-line treatment in patients with metastatic castration-resistant… (full text at CIViC) PMID 38049622 · Fizazi et al., 2024 · Open in CIViC | civic |
| CDKN2A Loss1 | ||||||||
| Palbociclib | Malignant Ovarian Neoplasm | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1377Preclinical study of the effects of PD-0332991 on proliferation, cell-cycle, apoptosis, and Rb phosphorylation in a panel of 40 human ovarian cancer cell lines. Concentration-dependent antiproliferati… (full text at CIViC) PMID 21278246 · Konecny et al., 2011 · Open in CIViC | civic |
| CFLAR Overexpression1 | ||||||||
| Bicalutamide | Malignant Prostate Neoplasm | Predictive | D | Supports Resistance | 3 | accepted | EID925Expression of c-FLIP (CFLAR) in 50 prostate specimens (assessed by IHC) was increased in castrate-resistant prostate cancer. In-vitro, silencing of CFLAR led to sensitization of two prostate carcinoma… (full text at CIViC) PMID 22623731 · McCourt et al., 2012 · Open in CIViC | civic |
| CHEK1 Mutation1 | ||||||||
| Olaparib | Castration-Resistant Prostate Carcinoma | Predictive | A | Supports Sensitivity Response | 2 | accepted | EID11210This 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 |
| CHEK2 1100DELC2 | ||||||||
| (predisposing) | Malignant Prostate Neoplasm | Predisposing | B | Supports Predisposition | 3 | rejected | EID1849Meta-analysis linking CHEK2 1100delC to a higher risk in prostate cancer ((OR 3.29; 95% confidence interval: 1.85-5.85; P = 0.00) ). PMID 26629066 · Wang et al., 2015 · Open in CIViC | civic |
| 〃 | Malignant Prostate Neoplasm | Predisposing | B | Supports Predisposition | 3 | accepted | EID1850Meta-analysis linking CHEK2 1100delC to a higher risk of prostate cancer (OR 3.29; 95% confidence interval: 1.85-5.85; P = 0.00). PMID 26629066 · Wang et al., 2015 · Open in CIViC | civic |
| CHEK2 I157T1 | ||||||||
| (predisposing) | Malignant Prostate Neoplasm | Predisposing | B | Supports Predisposition | 3 | accepted | EID1852Meta-analysis of 4 retrospective studies linked CHEK2 I157T to a higher risk of prostate cancer (OR 1.80; 95% confidence interval: 1.51-2.14; P = 0.00). PMID 26629066 · Wang et al., 2015 · Open in CIViC | civic |
| CHEK2 IVS2+1G>A1 | ||||||||
| (predisposing) | Malignant Prostate Neoplasm | Predisposing | B | Does Not Support Predisposition | 2 | accepted | EID1854Meta-analysis of 2 studies of CHEK2 and prostate cancer showing that the IVS2+1G>A mutation is irrelevant as a predictor of prostate cancer. PMID 26629066 · Wang et al., 2015 · Open in CIViC | civic |
| CHEK2 mutation2 | ||||||||
| Olaparib | Castration-Resistant Prostate Carcinoma | Predictive | A | Supports Sensitivity Response | 3 | accepted | EID11205This 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 |
| Enzalutamide + TalazoparibCombination | Castration-Resistant Prostate Carcinoma | Predictive | B | Does Not Support Sensitivity Response | 1 | submitted | EID11737This phase 3 study evaluated the PARP inhibitor talazoparib in combination with the androgen receptor inhibitor enzalutamide as a first-line treatment in patients with metastatic castration-resistant… (full text at CIViC) PMID 38049622 · Fizazi et al., 2024 · Open in CIViC | civic |
| PDGFB Fusion1 | ||||||||
| (diagnostic) | Malignant Uterine NeoplasmALIAS | Diagnostic | C | Supports Positive | 3 | submitted | EID11730COL1A1::PDGFB fusion is typically found in dermatofibrosarcoma protuberans, but this study revealed it could appear in uterine sarcoma, and the presence of this fusion was suggested as a feature for a… (full text at CIViC) PMID 30877273 · Croce et al., 2019 · Open in CIViC | civic |
| DEFA1 EXPRESSION1 | ||||||||
| Docetaxel | Malignant Prostate Neoplasm | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID808Blood mRNA levels of DEFA1, DEFA1B and DEFA3 were associated with response to docetaxel treatment in castration resistant prostate cancer. The discovery cohort consisted of 6 patients, results were va… (full text at CIViC) PMID 26261420 · Kohli et al., 2015 · Open in CIViC | civic |
| DICER1 D1709E1 | ||||||||
| (predisposing) | Ovarian Sertoli-Leydig Cell TumorALIAS | Predisposing | C | Supports Predisposition | 2 | accepted | EID5888DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were two mutations in D1709E… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 D1709G2 | ||||||||
| (predisposing) | Ovarian Sertoli-Leydig Cell TumorALIAS | Predisposing | C | Supports Predisposition | 3 | accepted | EID5887DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in D1709G. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| (oncogenic) | Granulosa Cell Tumor | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID5897DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with one mutation in a Juvenile ovarian granulosa-cell tumor (1/14; 7%). This individual had a somat… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 D1709N2 | ||||||||
| (diagnostic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Diagnostic | B | Does Not Support Positive | 4 | accepted | EID5534In this exploratory study of Sertoli-Leydig cell tumors, DICER1 mutations were found in over half of the samples sequenced, but were not found to have any role in tumorigenesis, contrary to what was p… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC | civic |
| (predisposing) | Ovarian Sertoli-Leydig Cell TumorALIAS | Predisposing | B | Supports Predisposition | 3 | accepted | EID5886DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were ten mutations in D1709N… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 D1810H1 | ||||||||
| (predisposing) | Ovarian Sertoli-Leydig Cell TumorALIAS | Predisposing | C | Supports Predisposition | 2 | submitted | EID5889DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in D1810H. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 D1810N1 | ||||||||
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID5891DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in D1810N. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 D1810Y2 | ||||||||
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID5890DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%).Two Sertoli-Lydig cell tumors harbo… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| 〃 | Mature Ovarian TeratomaALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID5901DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103). Of the eight mature teratomas that were evaluated, one had a somatic mutation in D1810Y. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 E1705K3 | ||||||||
| (diagnostic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID5533Sanger sequencing identified DICER1 hotspot mutations in 20 of 32 (63%) ovarian Sertoli–Leydig cell tumors. These mutations were unrelated to tumor differentiation and mostly (16/20, 80%) were E1705K.… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC | civic |
| (predisposing) | Ovarian Sertoli-Leydig Cell TumorALIAS | Predisposing | B | Supports Predisposition | 3 | submitted | EID5885DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were five mutations in E1705… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| (diagnostic) | Ovarian GynandroblastomaALIAS | |||||||
| DICER1 E1813G1 | ||||||||
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID5893DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in E1813G. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 E1813K1 | ||||||||
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID5894DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in E1813K. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 E1813 mutations1 | ||||||||
| (diagnostic) | Malignant Ovarian Neoplasm | Diagnostic | B | Supports Positive | 5 | rejected | EID7049E1813 residue has been described as a hotspot for somatic missense mutations in DICER1. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 E1813Q2 | ||||||||
| (diagnostic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Diagnostic | B | Does Not Support Positive | 4 | accepted | EID5535In this exploratory study of Sertoli-Leydig cell tumors, DICER1 mutations were found in over half of the samples sequenced, but were not found to have any role in tumorigenesis, contrary to what was p… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC | civic |
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID5892DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were two patients with E1813… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 G1809R1 | ||||||||
| (diagnostic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Diagnostic | C | Supports Positive | 2 | submitted | EID12324Sanger sequencing identified DICER1 hotspot mutations in 20 of 32 (63%) ovarian Sertoli–Leydig cell tumors. These mutations were unrelated to tumor differentiation and mostly (16/20, 80%) were E1705K.… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC | civic |
| DICER1 Loss-of-function1 | ||||||||
| (predisposing) | Ovarian GynandroblastomaALIAS | Predisposing | A | Supports Predisposition | 2 | submitted | EID11479In an analysis of 107 patients enrolled in the International Ovarian and Testicular Stromal Tumor Registry, 5 had gynandroblastoma (14-32 yo). 4 of the 4 gynandroblastoms with material available for … (full text at CIViC) PMID 29037807 · Schultz et al., 2017 · Open in CIViC | civic |
| DICER1 RNase IIIb Mutation3 | ||||||||
| (diagnostic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Diagnostic | B | Supports Positive | 4 | submitted | EID13129A sequencing analysis of the DICER1 RNase IIIb region in nonepithelial ovarian neoplasms revealed a striking concentration of somatic mutations at residues required for metal binding within the cataly… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| 〃 | Ovarian GynandroblastomaALIAS | Diagnostic | C | Supports Positive | 2 | submitted | EID11481Genomic analysis identified DICER1 RNase IIIb domain hotspot mutations in 3 of 16 cases of gynandroblastoma, leading the authors to suggest that DICER1 hotspot mutations are a key driver in a subset o… (full text at CIViC) PMID 29660837 · Wang et al., 2018 · Open in CIViC | civic |
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | |||||||
| DICER1 Loss-of-function + DICER1 RNase IIIb Mutation1 | ||||||||
| (diagnostic) | Ovarian GynandroblastomaALIAS | Diagnostic | B | Supports Positive | 3 | submitted | EID11478In an analysis of 107 patients enrolled in the International Ovarian and Testicular Stromal Tumor Registry, 5 had gynandroblastoma (14-32 yo). 4 of the 4 gynandroblastoms with material available for … (full text at CIViC) PMID 29037807 · Schultz et al., 2017 · Open in CIViC | civic |
| DNMT1 EXPRESSION1 | ||||||||
| Decitabine | Malignant Ovarian Neoplasm | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID819DNMT1 expression (mRNA expression from an independent study) correlated with sensitivity to decitabine (ρ, −0.443, Pearson regression analysis) in this preclinical study of 45 solid tumor cell lines. … (full text at CIViC) PMID 25968887 · Stewart et al., 2015 · Open in CIViC | civic |
| EGFR 3' UTR MUTATION1 | ||||||||
| Carboplatin + PaclitaxelSubstitutes | Malignant Ovarian Neoplasm | Predictive | B | Supports Resistance | 4 | rejected | EID663The functional variant rs61764370 in the KRAS gene 3' UTR (KRAS-variant) was found to be correlated with platinum-based chemotherapy resistance in patients with Epithelial Ovarian Cancer (EOC). 291 EO… (full text at CIViC) PMID 22139083 · Ratner et al., 2012 · Open in CIViC | civic |
| EGFR Amplification1 | ||||||||
| (prognostic) | Cervical Squamous Cell CarcinomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID471In patients with cervical squamous cell carcinoma, those with gene amplification of EGFR had worse overall survival. PMID 21730982 · Iida et al., 2011 · Open in CIViC | civic |
| EGFR Exon 4 Deletion1 | ||||||||
| Cisplatin | Ovarian CarcinomaALIAS | Predictive | D | Supports Resistance | 4 | accepted | EID662A variant of EGFR with exon 4 deletion (de4 EGFR) enhanced the invasiveness and cisplatin resistance of epithelial ovarian cancer cell lines (SKOV3, CAOV3, ES2) in vitro when compared with wild-type E… (full text at CIViC) PMID 23764753 · Zhang et al., 2013 · Open in CIViC | civic |
| NTRK3 Fusion1 | ||||||||
| (oncogenic) | Cervical Sarcoma | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID10483A 33-year-old Han Chinese woman has been associated with an NTRK fusion cervical sarcoma which was positive for Pan-TRK by immunohistochemistry (IHC) analysis. However, FISH for NTRK1 was negative. Th… (full text at CIViC) PMID 35572973 · Dang et al., 2022 · Open in CIViC | civic |
| EMSY Overexpression1 | ||||||||
| Bevacizumab + Carboplatin + PaclitaxelCombination | Ovarian Serous AdenocarcinomaALIAS | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID12149Patients with high-grade serous ovarian cancer (HGSOC) and EMSY overexpression (n = 265) received platinum-based first-line chemotherapy. When comparing patients with high and low EMSY expression, usi… (full text at CIViC) PMID 31154673 · Hollis et al., 2019 · Open in CIViC | civic |
| EPHA2 Expression1 | ||||||||
| Dasatinib + TrametinibCombination | Malignant Uterine NeoplasmALIAS | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12576In a preclinical study of uterine cancer cell lines resistant to EphA2 inhibitors (HEC-1A, Ishikawa, RL-95), EphA2-positive cells treated with the MEK inhibitor trametinib restored sensitivity to dasa… (full text at CIViC) PMID 34391578 · Wu et al., 2021 · Open in CIViC | civic |
| EPHB2 D679N (c.2035G>A)1 | ||||||||
| (diagnostic) | Malignant Prostate Neoplasm | Diagnostic | B | Supports Positive | 3 | submitted | EID7230The identification of tumor-suppressor genes in solid tumors by classical cancer genetics methods is difficult and slow. Nonsense-mediated RNA decay microarrays were combined with array-based compara… (full text at CIViC) PMID 15300251 · Huusko et al., 2004 · Open in CIViC | civic |
| EPHB2 EPHB21 | ||||||||
| (diagnostic) | Malignant Prostate Neoplasm | Diagnostic | B | Supports Positive | 3 | submitted | EID7226The EphB2 gene has been implicated as a tumor suppressor gene somatically altered in both prostate cancer (PC) and colorectal cancer. A set of 341 single nucleotide polymorphisms (SNPs) encompassing … (full text at CIViC) PMID 21603658 · Robbins et al., 2011 · Open in CIViC | civic |
| ERBB2 Amplification5 | ||||||||
| (prognostic) | Endometrial Serous Adenocarcinoma | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1096In a study of 27 African American and caucasian patients, endometrial adenocarcinoma samples were assessed for HER2 via IHC staining, and association studies were performed using corresponding patient… (full text at CIViC) PMID 15746676 · Santin et al., 2005 · Open in CIViC | civic |
| Pertuzumab + TrastuzumabCombination | Malignant Uterine NeoplasmALIAS | Predictive | B | Does Not Support Sensitivity Response | 2 | accepted | EID5986The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment with pertuzumab plus trastuzumab, erlotinib, vemurafenib, or vismodegib, respectively. None of the … (full text at CIViC) PMID 29320312 · Hainsworth et al., 2018 · Open in CIViC | civic |
| Trastuzumab | Malignant Endometrial Neoplasm | |||||||
Data updated 23 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.
| Diagnostic |
| C |
| Supports Positive |
| 2 |
| accepted |
EID11480In an analysis of a range of different ovarian sex cord-stromal tumors, 2 of 5 gynandroblastomas were found to have the DICER1 E1705K hotspot mutation supporting a role for DICER1 in a subset of these… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC |
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| Oncogenic |
| D |
| Supports Oncogenicity |
| 4 |
| submitted |
EID13130Somatic missense alterations repeatedly affecting the metal-coordinating residues of the DICER1 RNase IIIb domain, particularly E1705, D1709, D1810, and E1813, were found across nonepithelial ovarian … (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC |
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| Predictive |
| B |
| Does Not Support Sensitivity Response |
| 2 |
| accepted |
EID1098This phase II single arm study assessed trastuzumab monotherapy in HER2 positive endometrial cancers with tumor response as primary endpoint. Participants had stage III, IV or recurrent HER2 positive… (full text at CIViC) PMID 19840887 · Fleming et al., 2010 · Open in CIViC |
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| 〃 | Endometrial Serous Adenocarcinoma | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID1097HER2 expression in uterine serous papillary carcinoma (USPC) is thought to be associated with poor prognosis and may act as a targetable driver mutation in this cancer. HER2 overexpression in USPC is… (full text at CIViC) PMID 18555254 · Santin et al., 2008 · Open in CIViC | civic |
| Carboplatin + TrastuzumabCombination | Ovarian Mucinous Adenocarcinoma | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID13137Ovarian mucinous carcinoma responds poorly to paclitaxel and carboplatin, prompting interest in targeted therapy, and it resembles gastro-oesophageal adenocarcinoma, a tumour type in which HER2 (ERBB2… (full text at CIViC) PMID 20003286 · McAlpine et al., 2009 · Open in CIViC | civic |