Neoplasm

Foundation One NGS assay and targeted RNAseq identified PAPSS1-BRAF fusion in a melanoma sample. Further BRAF fusions (TRIM24-BRAF) were identified in TCGA and additional samples. Ectopic expression o… (full text at CIViC)

PMID 24345920 · Hutchinson et al., 2013 · Open in CIViC

In this study we report that nonspitzoid metastasizing melanomas of adults may also harbor NTRK fusions and that NTRK expression can be immunohistochemically detected in these tumors. Of 751 melanomas… (full text at CIViC)

PMID 29683819 · Lezcano et al., 2018 · Open in CIViC

In a molecular analysis comparing 46 apocrine cutaneous mixed tumors (CMTs) with 45 salivary gland pleomorphic adenomas (PAs), TRPS1::PLAG1 was the predominant PLAG1 fusion in CMTs and was significant… (full text at CIViC)

PMID 39468990 · Alsugair et al., 2024 · Open in CIViC

This study describes two novel PLAG1 fusions, TRPS1–PLAG1 and NDRG1–PLAG1, identified in histologically confirmed cases of chondroid syringoma. Both fusions involve promoter swapping, placing PLAG1 ex… (full text at CIViC)

PMID 32345665 · Panagopoulos et al., 2020 · Open in CIViC

A patient with metastatic bladder cancer that responded well to the mTOR inhibitor everolimus was shown to harbor a TSC1 frameshift truncation mutation (c.1907_1908del, p.Glu636fs) and a nonsense NF2 … (full text at CIViC)

PMID 22923433 · Iyer et al., 2012 · Open in CIViC

Tumors (n=14) expressing TSC1 mutations (5/14) show notably more sensitivity to everolimus than their wild-type counterparts (9/14). A dramatic response was observed in a patient with combination of L… (full text at CIViC)

PMID 22923433 · Iyer et al., 2012 · 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

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

In a phase II trial of everolimus in thyroid cancer (NCT00936858), seven patients with anaplastic thyroid carcinoma were treated, and only one patient achieved an objective response. This 57-year-old … (full text at CIViC)

PMID 25295501 · Wagle et al., 2014 · Open in CIViC

Prostate cancer cell lines over-expressing TSPYL1 P62S had similar levels of cell proliferation as control cells normally expressing TSPYL1 wildtype when treated with abiraterone. Authors note that TS… (full text at CIViC)

PMID 29027195 · Qin et al., 2018 · Open in CIViC

In a prospective clinical trial, 87 metastatic castration resistant prostate cancer (mCRPC) patients treated with abiraterone acetate/prednisone (AA/P) showed that TSPYL1 R62S (NC_000006.11:g.11660081… (full text at CIViC)

PMID 29027195 · Qin et al., 2018 · Open in CIViC

6 of 89 patients with lung adenocarcinoma had amplification of TTF1. There was no statistical difference in overall survival between patients with and without gene amplification.

PMID 19040416 · Barletta et al., 2009 · Open in CIViC

High expression of class 3 beta-tubulin led to decreased effect of paclitaxel on cell motility in HeLa, MCF-7 and CHO cell lines.

PMID 21576762 · Ganguly et al., 2011 · Open in CIViC

High expression of betaIII-tubulin, as assessed in 85 breast cancers by IHC, was associated with better pathological response.

PMID 23218766 · Wang et al., 2013 · Open in CIViC

TYK2 protein overexpression was observed in 60% of MPNST cases using an independently generated tissue microarray, regardless of NF1 status. A total of 3 women and 4 men with NF1-MPNST were studied (m… (full text at CIViC)

PMID 27875628 · Hirbe et al., 2017 · Open in CIViC

In this 2020 study, the authors analyzed bone marrow samples from 62 B-ALL patients at diagnosis using next-generation sequencing (NGS) to search for disease-associated TYK2 gene variants. The patient… (full text at CIViC)

PMID 33260630 · Turrubiartes-Martínez et al., 2020 · Open in CIViC

The TYMS 5' 3TPR germline variant was significantly correlated with lower response to irinotecan plus 5-fluorouracil treatment in colorectal cancer patients. 149 metastatic CRC patients treated with i… (full text at CIViC)

PMID 20628391 · Martinez-Balibrea et al., 2010 · Open in CIViC

Genomic DNA from liver metastases of four different colorectal cancer patients who had previously undergone 5-FU-based adjuvant chemotherapy was evaluated using digital karyotyping. TYMS amplification… (full text at CIViC)

PMID 14970324 · Wang et al., 2004 · Open in CIViC

The TYMS DNA copy number was analyzed in 111 patient samples, divided into two groups: those exposed to 5-FU (n = 62) and those not exposed to 5-FU (n = 49). It was found that the 5-FU exposed group h… (full text at CIViC)

PMID 20727737 · Watson et al., 2010 · Open in CIViC

Reduced TYMS expression by shRNA increased fluorouracil cytotoxicity in HCT-116, HT-29, and SW620 colorectal cancer cells, with approximately 3- to 8-fold enhancement of drug sensitivity.

PMID 21449674 · Muhale et al., 2011 · Open in CIViC

mRNA expression of thymidylate synthase (TYMS) in 62 NSCLC patients correlated with response rate to pemetrexed mono- or combination therapy. Response rate with low TYMS expression was 0.29 compared w… (full text at CIViC)

PMID 26502926 · Chamizo et al., 2015 · Open in CIViC

mRNA levels of TYMS, DHFR and GARFT were assessed (rt-PCR) in 50 patient samples of NSCLC. TYMS mRNA levels were lower in responders compared to non-responders to pemetrexed (1.671 ± 0.844 versus 5.97… (full text at CIViC)

PMID 23060591 · Shimizu et al., 2012 · Open in CIViC

499 children from ALL trials treated with methotrexate were genotyped for 8 SNPs in 5 genes. The TYMS rs34743033 tandem repeat polymorphism was the only significant predictor of stomatitis in a multip… (full text at CIViC)

PMID 23652803 · Radtke et al., 2013 · Open in CIViC

49 tumor specimens from 268 NSCLC patients treated with pemetrexed were evaluated for expression of TYMS and DHFR by IHC and compared to treatment outcomes. Patients with low TS (≤150) expression had … (full text at CIViC)

PMID 21367480 · Chen et al., 2011 · Open in CIViC

Case report of a patient with metastatic prostate cancer and underexpression of TYMS who showed a nonspecified response to pemetrexed for at least 4 months.

PMID 24782778 · Russell et al., 2014 · Open in CIViC

In a large study of patients with primary myelofibrosis evaluating mutations associated with anemia, 457 patients were evaluated for U2AF1 mutations. U2AF1 mutations were significantly associated with… (full text at CIViC)

PMID 27058230 · Barraco et al., 2016 · Open in CIViC

Age, sex, FAB subtype and karyotypes were not statistically significant between AML patients with U2AF Q157P/R mutations and those who harbor wild type U2AF.

PMID 23029227 · Qian et al., 2012 · Open in CIViC

After adjusting for age and cancer stage, presence of U2AF mutation such as Q157P/R is prognostic for poorer survival outcomes in patients with MDS.

PMID 23861105 · Wu et al., 2013 · Open in CIViC

Age, sex, FAB subtype and karyotypes were not statistically significant between AML patients with U2AF S34Y/F mutations and those who harbor wild type U2AF.

PMID 23029227 · Qian et al., 2012 · Open in CIViC

After adjusting for age and cancer stage, the presence of U2AF mutations such as S34Y/F are prognostic for poorer survival outcomes in patients with MDS.

PMID 23861105 · Wu et al., 2013 · Open in CIViC

This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Some concerns about the validity of the results have been expressed in subs… (full text at CIViC)

PMID 28985567 · Reddy et al., 2017 · Open in CIViC

Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including UBR5. This gene has also been reported… (full text at CIViC)

PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC

UBTF tandem duplications frequently found in patients with relapsed AML.

PMID 35176137 · Umeda et al., 2022 · Open in CIViC

shRNA-mediated reduction of UCK2 expression significantly sensitized HCT-116, HT-29, and SW620 colorectal cancer cells to fluorouracil, decreasing IC50 approximately 3- to 6-fold.

PMID 21449674 · Muhale et al., 2011 · Open in CIViC

Using next-generation DNA and RNA sequencing, three cases harboring NTRK fusions were identified in a cohort of 113 osteosarcomas (including both primary tumors and metastases). Each of the three case… (full text at CIViC)

PMID 32022484 · Ameline et al., 2020 · Open in CIViC

The FDA approved package insert for Belinostat recommends dose adjustment for UGT1A1*28 allele homozygotes.

PMID 26313268 · Goey et al., 2016 · Open in CIViC

In a phase 1 trial belinostat (400-800mg/m2/24h) was administered to 25 patients in combination with cisplatin and etoposide. Endpoints were associations between genotype of UGT1A1 and pharmacokinetic… (full text at CIViC)

PMID 26313268 · Goey et al., 2016 · Open in CIViC

Colorectal cancer cell lines were evaluated for response to the HSP90 inhibitor ganetespib. Correlating cell line-specific IC50s with the corresponding gene expression patterns revealed a possible re… (full text at CIViC)

PMID 25210794 · Landmann et al., 2014 · Open in CIViC

shRNA-mediated reduction of UMPS expression increased resistance to fluorouracil by approximately twofold in HCT-116 and SW620 colorectal cancer cells, as measured by increased IC50.

PMID 21449674 · Muhale et al., 2011 · Open in CIViC

Reduction of UNG expression by shRNA significantly sensitized all three colorectal cancer cell lines to fluorouracil. Across the UNG, NME1, and RRM1 experiments, IC50 decreases ranged from approximate… (full text at CIViC)

PMID 21449674 · Muhale et al., 2011 · Open in CIViC

In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. The USP25-JAK2 fusion is rare; this study involve… (full text at CIViC)

PMID 28408464 · Reshmi et al., 2017 · Open in CIViC

Described in multiple genome-wide studies of BL

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

The study showed association of the ABL1 fusions with partner genes other than BCR with a specific molecular/genetic subtype of B-lymphoblastic leukemia characterized by the expression signature simil… (full text at CIViC)

PMID 25207766 · Roberts et al., 2014 · Open in CIViC

The study showed that in B-ALL the the presence of ABL2 fusions with different partner genes is diagnostic for the so-called BCR-ABL1-like (or Philadelphia (Ph)-like) molecular subtype of B-ALL. Ph-l… (full text at CIViC)

PMID 25207766 · Roberts et al., 2014 · Open in CIViC