Malignant Neoplasm of Unknown Primary

JAK1 mutations were identified by sequencing 60 HCC PDX tumour models. There mutations were then functionally characterized. HEK293FT cells were transfected with JAK1 WT or mutants (N451S, E483D, S703… (full text at CIViC)

PMID 26701727 · Yang et al., 2016 · Open in CIViC

JAK1 mutations were identified by sequencing 60 HCC PDX tumour models. There mutations were then functionally characterized. HEK293FT cells were transfected with JAK1 WT or mutants (N451S, E483D, S703… (full text at CIViC)

PMID 26701727 · Yang et al., 2016 · Open in CIViC

A JAK1 S703I mutation was found to activate the JAK-STAT signaling pathway in vitro and in vivo in hepatocellular carcinoma. Ruxolitinib causes the suppression of JAK-STAT signaling pathway in PDX mod… (full text at CIViC)

PMID 26701727 · Yang et al., 2016 · Open in CIViC

Comprehensive genomic profiling on a tumor and germline sample from a patient with refractory lung adenocarcinoma who achieved marked long-term clinical benefit from anti-PD-L1 therapy. Two activating… (full text at CIViC)

PMID 26014096 · Van Allen et al., 2015 · Open in CIViC

Comprehensive genomic profiling on a tumor and germline sample from a patient with refractory lung adenocarcinoma who achieved marked long-term clinical benefit from anti-PD-L1 therapy. Two activating… (full text at CIViC)

PMID 26014096 · Van Allen et al., 2015 · Open in CIViC

A 67-year-old female presents with recurrent metastatic colonic adenocarcinoma. Immunohistochemical and genetic workup showed overexpression of c-JUN and FOS, which presumably signals through the RAA… (full text at CIViC)

PMID 27022066 · Jones et al., 2016 · Open in CIViC

Case report of a 62-year old male patient diagnosed with pancreatic acinar cell carcinoma. Liver metastases were diagnosed and treatment was started with gemcitabine plus nab-paclitaxel regimen. After… (full text at CIViC)

PMID 35005993 · Gaule et al., 2022 · 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

Phase 2 study of pazopanib in pretreated advanced neuroendocrine tumors. Study found that patients with immunoexpression of VEGFR2 (KDR) above the median had longer PFS (12.6 months vs 9.1 months, P=… (full text at CIViC)

PMID 26063633 · Grande et al., 2015 · Open in CIViC

Case Report of a 84-year-old woman with stage IVb CRC after progression under 5-fluorouracil and bevacizumab. NGS revealed a frameshift mutation in APC, a missense mutation in KRAS. Variants of uncert… (full text at CIViC)

PMID 27004155 · Loaiza-Bonilla et al., 2016 · Open in CIViC

KIF23 variant 1 was found to be expressed in the cDNA of tumor tissues from a large cohort of HCC patients of chinese descent via PCR. This expression was absent in the normal tissues of these patient… (full text at CIViC)

PMID 26674738 · Sun et al., 2015 · Open in CIViC

Case report of a 50-year-old male with Stage 1 Lung adenocarcinoma. NGS detected the presence of KIF5B::EGFR fusion (exon 15 and exon 18). The patient received two cycles of chemotherapy but experienc… (full text at CIViC)

PMID 34163176 · Wang et al., 2021 · Open in CIViC

This case study reports the first case of a KIF5B-EGFR fusion (KIF5B exon 15–EGFR exon 18) in primary lung adenocarcinoma. The patient showed a significant partial response to afatinib and bevacizumab… (full text at CIViC)

PMID 32903808 · Xu et al., 2020 · Open in CIViC

A 56 year old woman presents with poorly differentiated stage IIIC lung adenocarcinoma. Chemoradiotherapy and 12-month durvalumab was administered with significant response. 11 months after durvalumab… (full text at CIViC)

PMID 36033470 · Lin et al., 2022 · Open in CIViC

Case report of a 74-year old woman with EGFR- and ALK-negative lung adenocarcinoma. FISH identified a deletion of 5'RET (FISH, indicating RET-gene rearrangement) and genomic testing confirmed a fusion… (full text at CIViC)

PMID 25982012 · Subbiah et al., 2015 · Open in CIViC

A case study of a patient with EGFR, KRAS, BRAF, HER2, ALK, ROS1 and MET negative adenocarcinoma of the lung. FISH analysis revealed a KIF5B-RET fusion. The RET inhibitor Vandetanib led to remission i… (full text at CIViC)

PMID 23584301 · Gautschi et al., 2013 · Open in CIViC

In a stage IV lung adenocarcinoma patient harboring a KIT D816G mutation, the KIT D816G mutation was associated with crizotinib resistance. The patient was initially found to harbor a ROS1 gene rearra… (full text at CIViC)

PMID 27068398 · Dziadziuszko et al., 2016 · Open in CIViC

Study evaluated 42 cases with aggressive fibromatosis were genotyped for the M541L (c.1621 A>C; rs3822214) was evaluated and compared to gender- and age-matched 126 healthy controls. In 4/7 cases with… (full text at CIViC)

PMID 21757432 · Grabellus et al., 2011 · Open in CIViC

An advanced thymic squamous cell carcinoma patient harboring a KIT V559G mutation was associated with partial response to sunitinib monotherapy. Upon identification of the KIT V559G mutation, the pat… (full text at CIViC)

PMID 27073655 · Hirai et al., 2016 · 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

Evaluation of 39 aggressive cutaneous squamous cell carcinomas revealed that tumors with a KMT2C mutation were 5x more likely to invade the bone (53% versus 10%; p=0.008). Patients with KMT2C mutatio… (full text at CIViC)

PMID 25303977 · Pickering et al., 2014 · Open in CIViC

In preclinical lung squamous cell carcinoma models, KMT2D loss increased sensitivity to SHP2 inhibition (SHP099) and pan-ERBB inhibition (afatinib). Enhanced growth suppression was observed in Kmt2d-d… (full text at CIViC)

PMID 36525973 · Pan et al., 2023 · Open in CIViC

In preclinical lung adenocarcinoma (LUAD) models, loss-of-function KMT2D (truncating/inactivating) was associated with greater sensitivity to glycolysis inhibition, most consistently 2-deoxy-D-glucose… (full text at CIViC)

PMID 32243837 · Alam et al., 2020 · Open in CIViC

In a retrospective TCGA cohort of microsatellite-instable colorectal adenocarcinoma (n = 43; KMT2D LOF = 16, WT = 27), KMT2D loss of function was associated with higher TMB (p < 0.001), higher neoanti… (full text at CIViC)

PMID 39578878 · Takemon et al., 2024 · Open in CIViC

FFPE tumor tissue from 1506 colorectal adenocarcinoma patients was analyzed at codons 12, 13, 61 and 146 by PCR. 672 KRAS mutations were found in 670 patients, and from these, two were inframe inserti… (full text at CIViC)

PMID 24642870 · Tong et al., 2014 · Open in CIViC

KRAS mutations (N=29 G12, N=1 G13) were the primary predictor of EGFR TKI resistance in patients with lung adenocarcinoma (N=83). Overall survival (P=0.001) and progression-free survival (P=0.005) wer… (full text at CIViC)

PMID 19794967 · Marchetti et al., 2009 · Open in CIViC

In two lung adenocarcinoma patients with EML4-ALK rearrangement (known to be sensitizing to crizotinib) and KRAS G12C co-mutation, progressive disease in response to 2nd-line crizotinib monotherapy wa… (full text at CIViC)

PMID 26712101 · Ulivi et al., 2016 · Open in CIViC

In a retrospective study of 23 patients with BRAF V600 mutation (a known vemurafenib sensitizing mutation) that developed cutaneous squamous-cell carcinoma upon treatment with vemurafenib monotherapy,… (full text at CIViC)

PMID 22256804 · Su et al., 2012 · Open in CIViC

When tested in MIAPaCa2 (PDAC cell line and KRAS G12C) cells, Neratinib and ARS-1620 strongly inhibit AKT and MAPK phosphorylation (Figure 6F). Also, MIAPaCa2 cell line with the variant in exposure to… (full text at CIViC)

PMID 31046123 · Li et al., 2020 · Open in CIViC

A 63 year old patient was diagnosed with lung adenocarcinoma and received several treatment regimens over approximately three years, including carboplatin/paclitaxel, erlotinib, pemetrexed/bevacizumab… (full text at CIViC)

PMID 23524406 · Rudin et al., 2013 · Open in CIViC

In this phase 1/2 trial the KRAS G12D degrader HRS-4642 in combination with PD-L1 inhibitor adebrelimab was tested in 48 pretreated KRAS G12D-positive pancreatic adenocarcinoma patients. Patients had … (full text at CIViC)

PMID 42748921 · Shi et al., 2026 · Open in CIViC

KRAS G12D-transformed HPNE cells with lentiviral vectors containing the variant significantly increased colony formation in number and size in soft agar compared to infected HPNE cells with the varian… (full text at CIViC)

PMID 31046123 · Li et al., 2020 · Open in CIViC

KRAS G12D-transformed HPNE cells with lentiviral vectors containing the variant significantly increased colony formation in number and size in soft agar compared to infected HPNE cells with the varian… (full text at CIViC)

PMID 31046123 · Li et al., 2020 · Open in CIViC

KRAS G12D-transformed HPNE cells with lentiviral vectors containing the variant significantly increased colony formation in number and size in soft agar compared to infected HPNE cells with the varian… (full text at CIViC)

PMID 31046123 · Li et al., 2020 · Open in CIViC

KRAS G12D-transformed HPNE cells with lentiviral vectors containing the variant significantly increased colony formation in number and size in soft agar compared to infected HPNE cells with the varian… (full text at CIViC)

PMID 31046123 · Li et al., 2020 · Open in CIViC

A 45-year old male (heavy smoker) presented with stage IV NSCLC (moderately differentiated adenocarcinoma. Sanger sequencing revealed a MET exon 14 splice site mutation (c.2888_3028del) and KRAS G12D … (full text at CIViC)

PMID 27257131 · Liu et al., 2016 · Open in CIViC

Following rapamycin treatment of mice with KrasG12D-induced lung adenocarcinomas, mice with Tsc1 deletion (exon17/18 deletion resulting in frameshift) in the lung exhibit increased overall survival, i… (full text at CIViC)

PMID 19966866 · Liang et al., 2010 · Open in CIViC

Adding trametinib to gemcitabine does not improve overall survival (OS), progression-free survival (PFS), overall response rate (ORR) or duration of response (DOR) in patients with untreated metastati… (full text at CIViC)

PMID 24915778 · Infante et al., 2014 · Open in CIViC

KRAS G12/G13 status was evaluated in cell-free DNA (cfDNA) of patients with untreated metastatic adenocarcinoma of the pancreas that were randomised (1:1) to receive gemcitabine plus trametinib or pla… (full text at CIViC)

PMID 24915778 · Infante et al., 2014 · Open in CIViC

The Medical Research Council (MRC) COIN trial consisted of patients with histologically confirmed adenocarcinoma of the colon or rectum, inoperable metastatic or locoregional measurable disease, and w… (full text at CIViC)

PMID 21641636 · Maughan et al., 2011 · Open in CIViC

The Medical Research Council (MRC) COIN trial consisted of patients with histologically confirmed adenocarcinoma of the colon or rectum, inoperable metastatic or locoregional measurable disease, and w… (full text at CIViC)

PMID 21641636 · Maughan et al., 2011 · Open in CIViC

In an in vitro study, the A549 cell line, which harbors the KRAS G12S mutation, was found to have insensitivity to dasatinib treatment (IC50: 7.4 uM). In in vivo experiments, KRAS G12S expressing A549… (full text at CIViC)

PMID 22328973 · Hammerman et al., 2011 · Open in CIViC

The Medical Research Council (MRC) COIN trial consisted of patients with histologically confirmed adenocarcinoma of the colon or rectum, inoperable metastatic or locoregional measurable disease, and w… (full text at CIViC)

PMID 21641636 · Maughan et al., 2011 · Open in CIViC

In a clinical study including 148 patients expressing KRAS mutants, low expression of KRAS4A is significantly associated with decreased OS (p = 2.72 x 10^-3) and low proportion of KRAS4A is also signi… (full text at CIViC)

PMID 29504894 · Yang et al., 2018 · Open in CIViC

In a study of 1036 patients with lung adenocarcinoma, patients with KRAS mutations (n=241) showed worse prognosis (OS: 19 months versus 23 months; HR=1.21; P=0.048).

PMID 22810899 · Johnson et al., 2013 · 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