Genitourinary System Neoplasm

MLH1 G606fs*2 (c.1816_1817del), identified in a case of microsatellite-unstable endometrial cancer, was confirmed to be somatic in a 46 year old female patient (sLS-1) with suspected Lynch Syndrome (L… (full text at CIViC)

PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC

This variant (M490T), identified in a case of microsatellite-unstable endometrial cancer was confirmed to be somatic in a 69 year-old female patient with suspected Lynch Syndrome (LS). The patient was… (full text at CIViC)

PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC

One patient in a cohort of 50 patients with metastatic prostate cancer had a frameshift mutation in the MRE11, ATM, MLH3 and NBN genes and showed clinical response to PARP inhibitor olaparib (16 weeks… (full text at CIViC)

PMID 26510020 · Mateo et al., 2015 · Open in CIViC

One patient in a cohort of 50 patients with metastatic prostate cancer had a frameshift mutation in the MRE11 gene and showed clinical response to PARP inhibitor olaparib.

PMID 26510020 · Mateo et al., 2015 · Open in CIViC

One endometrial cell line with decreased MRE11 expression caused by a homozygous poly(T) mutation exhibited increased sensitivity to the PARP inhibitor BMN-673. Loss of MRE11 was identified in 30.7% o… (full text at CIViC)

PMID 24927325 · Koppensteiner et al., 2014 · Open in CIViC

MSH2 E483G (c.1448A > G), identified in a case of microsatellite-unstable endometrial cancer was confirmed to be somatic in a 69 year old female patient (sLS-39) with suspected Lynch Syndrome (LS). Th… (full text at CIViC)

PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC

This variant (R383*), identified in two patients, was confirmed to be a somatic mutation in both patients' microsatellite-unstable tumors (39 year-old female with endometrial cancer & 34 year-old fema… (full text at CIViC)

PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC

This variant (V352I), identified in a case of microsatellite-unstable endometrial cancer, was confirmed to be somatic in a 69 year-old female patient with suspected Lynch Syndrome (LS). The patient wa… (full text at CIViC)

PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC

A phase 3 randomized trial assessed dostarlimab or placebo (combined with carboplatin-paclitaxel) in 494 patients with recurrent or primary advanced (stage III/IV) endometrial cancer (RUBY trial). End… (full text at CIViC)

PMID 36972026 · Mirza et al., 2023 · Open in CIViC

A phase 3 randomized trial assessed dostarlimab or placebo (combined with carboplatin-paclitaxel) in 494 patients with recurrent or primary advanced (stage III/IV) endometrial cancer (RUBY trial). End… (full text at CIViC)

PMID 38866180 · Powell 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

To test for genes associated with PARPi response, a literature review of 79 publications was done, followed by CRISPR-Cas9 cell competition assays in combination with olaparib treatment in six EOC cel… (full text at CIViC)

PMID 36307400 · Coelho et al., 2022 · Open in CIViC

One 56 year old female with advanced recurrent low grade serous ovarian cancer with NRAS Q61K mutation had a partial response to trametinib, with short follow-up.

PMID 30809568 · Champer et al., 2019 · Open in CIViC

In a clinical study of 49 patients, 29 patients with Ovarian Cancer and wild-type NRAS gene were treated with Cetuximab. After 16 weeks, no clinical activity was observed. A PFS of 8 weeks (95% CI, 6.… (full text at CIViC)

PMID 33090333 · Fisher et al., 2020 · Open in CIViC

An NRG1-ERBB3 autocrine signal-transducing loop was identified in a subset of ovarian cancers and cell lines. Disruption of this loop led to decreased cell-growth in-vitro and prolonged survival in-vi… (full text at CIViC)

PMID 20227043 · Sheng et al., 2010 · Open in CIViC

From 14 prostate cancer patients (88%) who had a response to olaparib, 7 patients had BRCA2 loss (4 with biallelic somatic loss, and 3 with germline mutations), 4 of 5 with had ATM aberrations and one… (full text at CIViC)

PMID 26510020 · Mateo et al., 2015 · 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 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)

Open in CIViC

The authors explored the viability of PAX8 expression as a biomarker for differentiating mullerian from non-mullerian tumors. 74 tumors (37 Mullerian/37 non-Mullerian) were examined for PAX8 expressio… (full text at CIViC)

PMID 24800185 · Heidarpour et al., 2014 · 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

Authors tested various cervical cancer cell lines (CaSki, SiHa and HeLa) for their responses to cisplatin, radiation therapy, and GDC-0941. CaSki cells that are heterozygous for the PIK3CA-E545K mutat… (full text at CIViC)

PMID 27489350 · Arjumand et al., 2016 · Open in CIViC

Cervical cancer cell lines were treated with 1uM cisplatin followed by 1-6Gy ionizing radiation (IR). CaSki cells with PIK3CA E545K mutation show resistance to cisplatin plus IR when compared with HeL… (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

A panel of 24 endometrioid endometrial cancer (EEC) cell lines was characterized for a set of mutations and sensitivity to pan PI3K class I inhibitor GDC-0941 (pictilisib) was assessed. EEC cell lines… (full text at CIViC)

PMID 23674493 · Weigelt et al., 2013 · Open in CIViC

94 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

This variant (R315*), identified in a case of microsatellite-unstable endometrial cancer, was confirmed to be somatic in a 69 year-old female patient with suspected Lynch Syndrome (LS). The patient wa… (full text at CIViC)

PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC

Case report of a patient with endometrial cancer and exceptional response to pembrolizumab (maintained at 14 months). POLE mutations V411L (exonuclease domain) and R114* were identified in the primary… (full text at CIViC)

PMID 27159395 · Mehnert et al., 2016 · Open in CIViC

In the PORTEC-3 trial cohort, POLE-ultramutated (POLEmut) endometrial carcinomas had a 98% five-year recurrence-free survival, independent of the adjuvant treatment arm. Variant P286R is the most comm… (full text at CIViC)

PMID 32749941 · León-Castillo et al., 2020 · 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 (by FISH) is associated with poorer prognosis in patients with prostate cancer.

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