Neoplasm

In a phase 3 trial (NCT03785964) involving 142 adults with progressing desmoid tumors, the gamma-secretase inhibitor nirogacestat demonstrated a significant progression-free survival benefit compared … (full text at CIViC)

PMID 36884323 · Gounder et al., 2023 · Open in CIViC

Whole genome sequencing and transcriptomic analysis were performed on 47 advanced PDAC patients. 3/47 patients were KRAS wildtype and all three of these cases harbored a NRG1 fusion. In a 54-year-old … (full text at CIViC)

PMID 31068372 · Jones et al., 2019 · Open in CIViC

In an open-label, phase II trial, 18 patients with histiocytosis, including two patients with Langerhans cell histiocytosis, of any mutational status were enrolled. Patients received cobimetinib at a … (full text at CIViC)

PMID 30867592 · Diamond et al., 2019 · Open in CIViC

In an open-label, phase II trial, 18 patients with histiocytosis, including 12 patients with Erdheim-Chester disease, one patient with ARAF S225V, and one patient with ARAF P216A, of any mutational st… (full text at CIViC)

PMID 30867592 · Diamond et al., 2019 · Open in CIViC

194 somatic mutations seen in primary lung cancers were functionally evaluated using three approaches: (1) differences in pattern or extent of changes in gene expression in A549 cells induced by trans… (full text at CIViC)

PMID 27478040 · Berger et al., 2016 · Open in CIViC

In one patient with S214C mutation, the use of sorafenib has led to more than 5 years of survival and near remission.

PMID 24569458 · Imielinski et al., 2014 · Open in CIViC

194 somatic mutations seen in primary lung cancers were functionally evaluated using three approaches: (1) differences in pattern or extent of changes in gene expression in A549 cells induced by trans… (full text at CIViC)

PMID 27478040 · Berger et al., 2016 · Open in CIViC

194 somatic mutations seen in primary lung cancers were functionally evaluated using three approaches: (1) differences in pattern or extent of changes in gene expression in A549 cells induced by trans… (full text at CIViC)

PMID 27478040 · Berger et al., 2016 · Open in CIViC

Analysing 101 samples of metastatic prostate cancer biopsy, a high friequency of structural variants in the AR gene were identified (23/101), comprising a heterogeneous mix of deletion, inversion, tra… (full text at CIViC)

PMID 31932493 · Li et al., 2020 · Open in CIViC

In a clinical study including 168 patients treated with abiraterone or enzalutamide, a multivariate analysis including tumor burden and TP53 status show no significant correlation between AR-V1, AR-V2… (full text at CIViC)

PMID 30209161 · De Laere et al., 2019 · Open in CIViC

Analysis was performed on 224 advanced prostate cancer (PCA) patient samples which had clinical outcome information. Elevated PSA levels in patients after radical prostatectomy are associated with me… (full text at CIViC)

PMID 19244107 · Guo et al., 2009 · Open in CIViC

Using a panel of three androgen-insensitive prostate cancer cell lines (C-81, CWR-R1 and 22Rv1), a novel AR protein isoform was identified. This protein was found to be encoded by three novel alternat… (full text at CIViC)

PMID 19244107 · Guo et al., 2009 · Open in CIViC

47 HNSCC patients treated with cetuximab/docetaxel were retrospectively analyzed for EGFRvIII, EGFR and AREG expression with IHC. 45% of cases expressed high level of AREG. High AREG expression in tum… (full text at CIViC)

PMID 21653686 · Tinhofer et al., 2011 · Open in CIViC

226 cetuximab-treated patients with colorectal cancer (CRC) were analyzed for mRNA expression (by qPCR) of EGFR and its ligands (EGF, TGFA, AREG and EREG). High AREG mRNA expression in KRAS wild type … (full text at CIViC)

PMID 23374602 · Pentheroudakis et al., 2013 · Open in CIViC

Mutations F876L in the ligand binding domain of the androgen receptor confered resistance to enzalutamide and ARN-509, causing these compounds to function as partial agonists in two prostate cancer ce… (full text at CIViC)

PMID 23779130 · Joseph et al., 2013 · Open in CIViC

In the STARTRK-NG Phase 1/2 trial of entrectinib in pediatric patients, with extracranial solid tumors or primary CNS tumors, aged <22 years with relapsed or refractory disease, tumors with fusions… (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · Open in CIViC

Ovarian clear cell carcinoma is a relatively chemotherapy-refractory ovarian cancer subtype with a comparatively stable genome and a well-recognized association with endometriosis, but the somatic alt… (full text at CIViC)

PMID 20942669 · Wiegand et al., 2010 · Open in CIViC

Treatment with anti-PD-L1 antibody reduced tumor burden and prolonged survival of mice bearing ARID1A-deficient but not ARID1A-wild-type ovarian tumors. ARID1A deficiency contributes to impaired MMR a… (full text at CIViC)

PMID 29736026 · Shen et al., 2018 · Open in CIViC

This study sequenced 73 DLBCL tumors (34 with matched constitutional DNA) and reported 322 genes they deemed recurrently mutated. Only genes that have been confirmed by other similar studies were adde… (full text at CIViC)

PMID 23292937 · Zhang et al., 2013 · Open in CIViC

Reported as significantly mutated in BL per the cited study. An arbitrarily selected variant from the study is included here.

PMID 30617194 · Grande et al., 2019 · Open in CIViC

In an in vitro study, human colorectal cancer cell line HCT116 cell line was made to homozygously express ARID1A Q546* via adeno-associated virus-mediated somatic gene targeting. Compared to the paren… (full text at CIViC)

PMID 27364904 · Miller et al., 2016 · Open in CIViC

This study included 290 patients with Clear Cell Renal Cell Carcinoma whose tumor tissues were sampled and then analyzed. These samples were then divided according to ARID1A expression after immunohis… (full text at CIViC)

PMID 25628030 · Park et al., 2015 · Open in CIViC

In this study, real-time quantitative RT-PCR assays were used in 66 pairs of cancerous and matched adjacent normal tissues. In 43 of those pairs, the expression level of ARID1A was significantly lower… (full text at CIViC)

PMID 22808142 · Wang et al., 2012 · Open in CIViC

Mutation of ARID2 in Hepatocellular Carcinoma (HCC) is often seen. There is about 6/16 of the truncated mutations found at the C2H2 domain (zinc finger) and about 16/24 mutations show that this domain… (full text at CIViC)

PMID 32071245 · Jiang et al., 2020 · Open in CIViC

In a study of 150 patients with metastatic castration resistant prostate cancer (mCRPC), 71.3% of cases (n=107) harbored androgen receptor (AR) pathway aberrations. Within the AR mutation cohort, 78… (full text at CIViC)

PMID 26000489 · Robinson et al., 2015 · Open in CIViC

In this single institution, open-label, single arm, phase II Trial, salivary gland carcinomas, staining positive for androgen receptor expression on IHC (minimum of 1% tumor cells), were treated with … (full text at CIViC)

PMID 29211833 · Fushimi et al., 2018 · Open in CIViC

In-vitro and xenograft studies of response of breast cancer cell lines to PI3K/mTOR inhibitor NVP-BEZ235 showed that sensitivity correlated with expression of the androgen receptor (AR). Reintroductio… (full text at CIViC)

PMID 24356815 · Wang et al., 2014 · Open in CIViC

In a clinical study including 78 patients with metastatic CRPC, multivariate analyses show that overexpression of AR-V9 is significantly correlated to primary resistance to abiraterone (p = 0.02).

PMID 28473535 · Kohli et al., 2017 · Open in CIViC

In 31enzalutamide-treated and 31 abiraterone-treated patients, detectable levels of AR-V7 was associated with resistance in these patients with castration resistant prostate cancer.

PMID 25184630 · Antonarakis et al., 2014 · Open in CIViC