Malignant Neoplasm of Unknown Primary

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

CD133 (PROM1) expression in 39 samples of hepatocellular carcinomas was correlated with JNK activity. Both were more highly expressed in patients not responding to sorafenib. CD133+ cells (sorted) wer… (full text at CIViC)

PMID 22596232 · Hagiwara et al., 2012 · Open in CIViC

Microarray expression data from 48 patients with gastric adenocarcinoma were analyzed for genes differentially expressed with regard to overall survival. Expression of 294 and 116 genes was enriched i… (full text at CIViC)

PMID 26894977 · Kwon et al., 2016 · 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

Case report of a 44-year-old patient with recurrent HER2-positive breast cancer. The primary tumor was HR positive; however, the metastatic tumor was HR negative. The patient was resistant to classica… (full text at CIViC)

PMID 27445490 · Sun et al., 2016 · Open in CIViC

In a preclinical study, efficacy of NVP-BEZ235 (dactolisib), lapatinib, and trastuzumab combination therapy was evaluated in vitro against HER2 amplified breast cancer cell line BT474 with shRNA-induc… (full text at CIViC)

PMID 19010894 · Eichhorn et al., 2008 · Open in CIViC

Archival tumor samples from 549 patients from the BOLERO-1 and -3 trials were analyzed for alterations in the PI3K pathway using next-generation sequencing, immunohistochemistry (IHC) and Sanger seque… (full text at CIViC)

PMID 27091708 · André et al., 2016 · 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

In a panel of 26 HNSCC cell lines tested for sensitivity to taselisib (an alpha, delta and gamma isoform-specific PI3K inhibitor) the UD-SCC-2 cell line with homozygous PTEN deletion had considerably … (full text at CIViC)

PMID 26589432 · Zumsteg et al., 2016 · Open in CIViC

Cancer-associated mutation of PTPN12 or reduced PTPN12 protein leads to aberrant activity of several tyrosine kinase receptors (MET, PDGFRβ, EGFR, and others). Restoring PTPN12 protein levels restrain… (full text at CIViC)

PMID 29578538 · Nair et al., 2018 · Open in CIViC

SHP-1 has been shown to be a tumor suppressor in hematopoietic cancers. Reduced SHP-1 expression in HCC correlates to aggressive tumor behavior resulting in a poor prognosis for patients.

PMID 29776962 · Wen et al., 2018 · Open in CIViC

PTPRT promoter hypermethylation was associated with increased sensitivity to STAT3 inhibition in this preclinical study in HNSCC. The authors found that PTPRT promoter methylation and sensitivity to S… (full text at CIViC)

PMID 25982282 · Peyser et al., 2016 · Open in CIViC

In a retrospective study of 34 non-small cell lung cancer patients, a lung adenocarcinoma patient with PXDNL deleterious P1460T mutation, treated with pembrolizumab monotherapy, was associated with a … (full text at CIViC)

PMID 25765070 · Rizvi et al., 2015 · Open in CIViC

A 51-year-old woman with an invasive small-cell cancer of the ureter showed a durable complete response at 3-years when treated with AZD7762 (an ATP-competitive checkpoint kinase inhibitor) and irinot… (full text at CIViC)

PMID 24934408 · Al-Ahmadie et al., 2014 · Open in CIViC

Through the histological examination of 25 patient tumor samples with hepatocellular carcinoma, the efficacy of postoperative sorafenib treatment may be correlated with higher levels of c-Raf-1 expres… (full text at CIViC)

PMID 26981887 · Lei et al., 2016 · Open in CIViC

A drug screen of triple-negative breast cancer (TNBC) cell lines found several therapies to be synthetically lethal with RB1 loss of function. Cell lines with endogenous expression of RB1 (BT20, MB453… (full text at CIViC)

PMID 29386107 · Witkiewicz et al., 2018 · Open in CIViC

A drug screen of triple-negative breast cancer (TNBC) cell lines found several therapies to be synthetically lethal with RB1 loss of function. Cell lines with endogenous expression of RB1 (BT20, MB453… (full text at CIViC)

PMID 29386107 · Witkiewicz et al., 2018 · Open in CIViC

Study evaluated a total of 50 small cell lung cancer patients with extensive stage disease. Multivariate analysis identified RB1 as a factor in predicting response to first-line chemotherapy (odds rat… (full text at CIViC)

PMID 26802149 · Dowlati et al., 2016 · Open in CIViC

In Capan-1 cell lines engineered to reduce pRB expression (by transfection with p16), resensitization to chemotherapy-induced apoptosis was observed. The effect was asserted to be specific to pRB depl… (full text at CIViC)

PMID 11792751 · Plath et al., 2002 · Open in CIViC

Study of a family with three generations of history indicating co-segregation of RET C609Y and multiple endocrine neoplasia type 2A, many of whom exhibited medullary thyroid cancers specifically. 22 … (full text at CIViC)

PMID 19472011 · Calva et al., 2009 · Open in CIViC

This study performed various functional characterizations of several RET mutations known to occur as pathogenic germline variants in multiple endocrine neoplasia type 2 and medullary thyroid cancer. S… (full text at CIViC)

PMID 16715139 · Mise et al., 2006 · Open in CIViC

Sixty-nine individuals from 12 different families presented a codon 634 mutation, the most prevailing missense mutation in our series. The specific mutations identified were C634Y (n = 49), C634R (n =… (full text at CIViC)

PMID 12788868 · Puñales et al., 2003 · Open in CIViC

In an in vitro study, a MTC-TT cell line expressing RET C634W mutation (endogenous) demonstrated resistance to axitinib treatment (IC50: 1.56uM). Resistance was determined by assessing cell viability… (full text at CIViC)

PMID 21470995 · Verbeek et al., 2011 · Open in CIViC

Medullary thyroid cancer cells with RET C634W mutation are insensitive to motesanib, compared to wild-type RET.

PMID 21422803 · Coxon et al., 2012 · Open in CIViC

A 15-year-old boy with metastatic medullary thyroid carcinoma harboring an RET exon 6 deletion (D378_G685>E), previously treated sequentially with four multitargeted kinase inhibitors (vandetanib, sun… (full text at CIViC)

PMID 32923911 · Ortiz et al., 2020 · Open in CIViC

In a study of 56 Medullary Thyroid Cancer patients (50 somatic and 6 hereditary) two patients had somatic p.E632_L633del. One of them had p.E632_L633del and p.D898_E901del found in lymph node metasta… (full text at CIViC)

PMID 29515777 · Romei et al., 2018 · Open in CIViC

Among 319 medullary thyroid cancer patients enrolled in the LIBRETTO-001 trial, 9 patients harbored the RET p.E632_L633del mutation (c.1894_1899delGAGCTG) in their tumor. After treatment with the sel… (full text at CIViC)

PMID 37376747 · Szymczak et al., 2023 · Open in CIViC

A patient with advanced progressive medullary thyroid cancer and distant metastatic disease harbored the somatic RET E632_L633del indel and was treated under the LIBRETTO-201 (NCT03906331) trial. Selp… (full text at CIViC)

PMID 35616103 · Elisei et al., 2022 · Open in CIViC

Cell-free DNA was analysed in a patient with RET-mutant (M918T and V804M) medullary thyroid cancer and another patient with CCDC6-RET fusion positive non-small cell lung cancer who had developed acqui… (full text at CIViC)

PMID 33161056 · Subbiah et al., 2021 · Open in CIViC

In a study of 100 patients with sporadic medullary thyroid carcinoma (MTC), RET gene exons 10-11 and 13-16 were analyzed with tumor and matched normal samples. A somatic RET mutation was identified in… (full text at CIViC)

PMID 18073307 · Elisei et al., 2008 · Open in CIViC

In a study of 64 patients (48 kindreds), 62 had germline mutations at known hotspots in RET. Patients with RET M918T mutation were associated with MEN 2B subtype and developed larger and more aggressi… (full text at CIViC)

PMID 9839497 · Egawa et al., 1998 · Open in CIViC