Genitourinary System Carcinoma

In the open‑label phase II AVATAR trial (NCT01130519), patients with HLRCC‑associated papillary RCC harboring germline FH pathogenic variants (n = 43) received erlotinib plus bevacizumab, with ORR as … (full text at CIViC)

PMID 40532152 · Srinivasan et al., 2025 · Open in CIViC

In the open‑label phase II AVATAR trial (NCT01130519), patients with sporadic papillary RCC (n = 40) received erlotinib plus bevacizumab, with ORR as the primary endpoint. They demonstrated a lower OR… (full text at CIViC)

PMID 40532152 · Srinivasan et al., 2025 · Open in CIViC

A case study showed that the mTOR inhibitor everolimus exhibited a relatively long-term effect in a patient with renal cell carcinoma and a FLCN germline mutation (c. 1285dupC, likely loss of function… (full text at CIViC)

PMID 23995526 · Nakamura et al., 2013 · Open in CIViC

Genetic disruption of Flcn in mouse kidney distal tubule cells leads to tumorigenic transformation of these cells to develop allograft tumors with an aggressive histologic phenotype. mTOR pathway play… (full text at CIViC)

PMID 26418749 · Wu et al., 2015 · Open in CIViC

In a patient with Birt-Hogg-Dubé syndrome-associated papillary renal cell carcinoma use of everolimus as sixth-line systematic treatment exhibited a relatively long-term effect as compared with the pr… (full text at CIViC)

PMID 23995526 · Nakamura et al., 2013 · Open in CIViC

In 219 patients with mostly Renal Cell Carcinoma and some Gastrointestinal Stromal tumors given sunitinib treatment, FLT3 T227M (rs1933437) was associated with the development of leukopenia. 95% confi… (full text at CIViC)

PMID 19667267 · van Erp et al., 2009 · Open in CIViC

This study demostrated that the progression-free survival, metastasis-free survival, and cancer-specific survival was significantly increased in patients with T393 homozygosity i.e. TT genotypes (56%,… (full text at CIViC)

PMID 15824158 · Frey et al., 2005 · Open in CIViC

In this study, Kaplan-Meier curves for tumor progression, development of metastasis, and tumor-related death showed a significant association of the T393C polymorphism with outcome (5-year cancer-spec… (full text at CIViC)

PMID 16467086 · Frey et al., 2006 · Open in CIViC

This paper details a prospective single-arm personalized cancer therapy study with n = 16 patients. The disease type was peritoneal mucinous carcinomatosis, predominantly of appendiceal origin. Palboc… (full text at CIViC)

PMID 39413348 · Weitz et al., 2025 · Open in CIViC

Significantly shorter median progression-free survival was observed in relapsed pseudomyxoma peritonei patients with GNAS mutations (N=9; 5.3 months) as compared to wild-type (N=6; not reached; p < 0.… (full text at CIViC)

PMID 27154293 · Pietrantonio et al., 2016 · Open in CIViC

Stable GSTP1 knockdown in ovarian carcinoma A2780 cell lines showed increased sensitivity to platinum-based chemotherapy drugs carboplatin, cisplatinum, carboplatin, and paclitaxel. For each drug, 3 b… (full text at CIViC)

PMID 25010864 · Sawers et al., 2014 · Open in CIViC

In a retrospective analysis of 20 patients with renal medullary carcinoma, all patients were found to have sickle cell trait (a condition due to a germline mutation in hemoglobin B known as HBB E6V), … (full text at CIViC)

PMID 30980040 · Jia et al., 2019 · Open in CIViC

In this phase Ib study (NCT01543763), the histone deacetylase (HDAC) inhibitor abexinostat was used in combination with the multi-tyrosine kinase inhibitor pazopanib to evaluate the effect of abexinos… (full text at CIViC)

PMID 28221861 · Aggarwal et al., 2017 · Open in CIViC

Immunohistochemical staining for HIF1A was performed on tumor samples from 65 patients that received pazopanib as part of VEG102616, of which 17 were classified as low expression and 48 were classifie… (full text at CIViC)

PMID 23881929 · Choueiri et al., 2013 · Open in CIViC

In 66 patients with advanced renal cell carcinoma, high expression of heme oxygenase-1 (HO-1) was associated with poor overall response rate (2.6% versus 53.6%, P<0.01), clinical benefit rate (47.4% v… (full text at CIViC)

PMID 26309414 · Zheng et al., 2015 · Open in CIViC

4 of 16 patients with urothelial carcinoma harboring HRAS hotspot point mutations and 1 patient with an HRAS frameshift insertion had a partial response to the farnesyltransferase inhibitor tipifarnib… (full text at CIViC)

PMID 32636318 · Lee et al., 2020 · Open in CIViC

This study evaluated the relationship between tumor mutations and treatment outcomes in the RECORD-3 clinical trial. With first-line everolimus, PBRM1 and BAP1 mutations were associated with longer (m… (full text at CIViC)

PMID 27751729 · Hsieh et al., 2017 · Open in CIViC

123 patients with Cowden or Cowden-like syndrome (from the IRB8458-PTEN series) and 50 unaffected individuals without PTEN variants were analyzed for germline methylation and expression of PTEN and KI… (full text at CIViC)

PMID 21177507 · Bennett et al., 2010 · Open in CIViC

In preclinical xenograft models derived from KMT2C-deficient tumors (HTB9 BC, H1437 NSCLC, T84 COAD, Cal-33 HNSCC), PARP1/2 inhibition with olaparib significantly reduced tumor growth compared to KMT2… (full text at CIViC)

PMID 30665945 · Rampias et al., 2019 · Open in CIViC

In preclinical urothelial carcinoma (UC) models, combined loss of KMT2C/KMT2D increased sensitivity to EGFR inhibitors, with Kmt2c/d-deficient cells showing significantly reduced IC50 values for afati… (full text at CIViC)

PMID 39806204 · Wang et al., 2025 · Open in CIViC

40 patients with pseudomyxoma peritonei underwent panel sequencing after cytoreductive surgery and hypertermic intraperitoneal chemotherapy (HIPEC). KRAS mutations were found in 72% of samples and KRA… (full text at CIViC)

PMID 27502722 · Pietrantonio et al., 2016 · Open in CIViC

A 43-year-old female was diagnosed with an adenocarcinoma of the ascending colon and received 6-months of adjuvant chemotherapy. After 5 years of completion of adjuvant chemotherapy, the disease relap… (full text at CIViC)

PMID 19661358 · Palmirotta et al., 2009 · Open in CIViC

The 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

Case report of a 51-year old patient with recurrent low-grade serous ovarian cancer. Selumetinib treatment in a phase-II trial led to a complete and durable response > 5 years. Sequencing (MSK-IMPACT … (full text at CIViC)

PMID 26324360 · Grisham et al., 2015 · Open in CIViC

In a retrospective analysis of 74 patients with papillary renal cell carcinoma, treated with foretinib, MET germline mutation was associated with improved response rate. A response was observed in 5 … (full text at CIViC)

PMID 23213094 · Choueiri et al., 2013 · Open in CIViC

A phase 3 randomized trial evaluated pembrolizumab (+ adjuvant chemotherapy) vs. placebo (+ adjuvant chemotherapy) in 1,095 newly diagnosed high-risk (non-endometrioid histology with FIGO stage I/II; … (full text at CIViC)

PMID 39284383 · Van Gorp et al., 2024 · Open in CIViC

In a single-arm phase II trial of pemetrexed in previously treated metastatic urothelial carcinoma selected for MTAP deficiency by IHC (NCT02693717; n = 7), 3 patients (42%) achieved ORR, with median … (full text at CIViC)

PMID 35379845 · Alhalabi et al., 2022 · Open in CIViC

Study of 1817 prostate adenocarcinoma cases and 2026 cancer free controls to clarify the association of (MTHFR)c.677C>T (and c.1298A>C ) of prostate cancer risk in a population of Han Chinese in Shang… (full text at CIViC)

PMID 27819322 · Wu et al., 2016 · Open in CIViC

In 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

A case-study of a patient with urothelial carcinoma reported exceptional response (14 months) in a phase 1 study of Everolimus and Pazopanib. Mutations E2014K and E2419K were shown to be activating in… (full text at CIViC)

PMID 24625776 · Wagle et al., 2014 · Open in CIViC

In an in vitro study, HEK293T cells expressing MTOR Q2223K, demonstrated sensitivity to temsirolimus treatment, comparable to HEK293T cells expressing wild-type MTOR. Sensitivity was determined by ass… (full text at CIViC)

PMID 24622468 · Voss et al., 2014 · Open in CIViC

This 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

Among 35 patients with clear cell RCC, loss-of-function mutation of PBRM1 were correlated with response to anti-PD-1 monotherapy (P = 0.012). It was confirmed in an independent validation cohort of 63… (full text at CIViC)

PMID 29301960 · Miao et al., 2018 · Open in CIViC

Among 35 patients with clear cell RCC, loss-of-function mutation of PBRM1 were correlated with response to anti-PD-1 monotherapy (P = 0.012). It was confirmed in an independent validation cohort of 6… (full text at CIViC)

PMID 29301960 · Miao et al., 2018 · Open in CIViC

In renal clear cell carcinoma, patients with PBRM1 mutations did not have a significantly different cancer specific survival.

PMID 23620406 · Hakimi et al., 2013 · Open in CIViC

In patients with sporatic clear cell renal cell carcinoma, those with mutations in PBRM1 had better overall survival than patients with BAP1 mutations.

PMID 23333114 · Kapur et al., 2013 · Open in CIViC

Ovarian 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

One 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

CaSki 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

In this study of 21 patients with FGFR-driven urothelial carcinoma treated with selective FGFR inhibitors (including erdafitinib), post-progression molecular analyses (tissue and/or ctDNA sequencing) … (full text at CIViC)

PMID 37377403 · Facchinetti et al., 2023 · Open in CIViC

Studies 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

This 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

In a study of 107 prostate adenocarcinomas, those with either hemi- or homozygous deletions of PTEN (as determined by interphase FISH) have shorter biochemical recurence-free survival than those witho… (full text at CIViC)

PMID 17700571 · Yoshimoto et al., 2007 · Open in CIViC

PTEN loss is associated with reduced response to mTOR inhibitors in patients with bladder cancer.

PMID 23989949 · Seront et al., 2013 · Open in CIViC

Tumors 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

Castrated 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