Cancer Family
Malignant Digestive System Neoplasm
CI-CAN-00000229Explore in graph →
Loading cancer entity…
Cancer Family
CI-CAN-00000229Explore in graph →
Variants & evidence
1,218 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| CDKN2A RS38149601 | ||||||||
| (prognostic) | Esophageal Squamous Cell CarcinomaALIAS | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1635124 esophageal squamous cell carcinoma patients with radical resection were genotyped using MassArray. The TC/CC genotype of p14ARF at rs3814960 had decreased overall survival (HR = 2.77, 95% CI: 1.3… (full text at CIViC) PMID 27414035 · Li et al., 2016 · Open in CIViC | civic |
| CDX2 EXPRESSION2 | ||||||||
| (prognostic) | Malignant Colorectal NeoplasmCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID956Patients with stage II/III colorectal cancer were analyzed for expression of CDX2 (by microarray and IHC). In the discovery (466 patients) and validation sets (314 patients), 5-year DFS was lower amon… (full text at CIViC) PMID 26789870 · Dalerba et al., 2016 · Open in CIViC | civic |
| 〃 | Malignant Colon Neoplasm | Prognostic | B | Supports Better Outcome | 4 | rejected | EID1130In patients with stage II colon cancer, positive CDX2 status was associated with longer overall survival. PMID 26789877 · Boland et al., 2016 · Open in CIViC | civic |
| CEACAM1 CEACAM1-L2 | ||||||||
| (prognostic) | Malignant Colorectal NeoplasmCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID9605In a clinical study including 164 patients, CEACAM1-L dominant expression is significantly associated with decreased OS by a multivariate analysis (p = 0.02). PMID 21413011 · Ieda et al., 2011 · Open in CIViC | civic |
| 〃 | Hepatocellular Carcinoma | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID9606In a clinical study including 128 patients, CEACAM1-L dominant expression is significantly associated with decreased recurrence-free survival rate by a multivariate analysis (p = 0.04). Moreover CEACA… (full text at CIViC) PMID 24390710 · Kiriyama et al., 2014 · Open in CIViC | civic |
| CEACAM1 CEACAM1-S1 | ||||||||
| (prognostic) | Malignant Colorectal NeoplasmCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID9607In a clinical study including 67 patients with liver metastases, enhanced CEACAM1-S expression in the state of CEACAM-L dominance at the primary tumor invasion front is significantly correlated with d… (full text at CIViC) PMID 29180203 · Yamaguchi et al., 2017 · Open in CIViC | civic |
| BEND2 Fusion1 | ||||||||
| (oncogenic) | Pancreatic Neuroendocrine CarcinomaALIAS | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID9219A 35 year-old patient presented with a grade 3 pancreatic neuroendocrine tumor and liver metastasis. Whole genome sequencing and RNAseq revealed a previously undescribed somatic translocation between … (full text at CIViC) PMID 31160355 · Williamson et al., 2019 · Open in CIViC | civic |
| CIC Loss4 | ||||||||
| Selumetinib | Malignant Pancreatic Neoplasm | Predictive | D | Supports Resistance | 3 | submitted | EID5115CIC knockout conferred resistance to selumetinib in KRAS G12V (PATU8902) pancreatic cancer cells. PMID 28178529 · Wang et al., 2017 · Open in CIViC | civic |
| Trametinib | Malignant Pancreatic Neoplasm | Predictive | D | Supports Resistance | 3 | submitted | EID5108In a CRISPR-Cas9 screen in two KRAS G12V pancreatic cancer cell lines (PATU8902, PATU8988T), CIC was found to promote proliferation/survival in the context of trametinib treatment. Additional in vitro… (full text at CIViC) PMID 28178529 · Wang et al., 2017 · Open in CIViC | civic |
| 〃 | Malignant Colon Neoplasm | Predictive | D | Supports Resistance | 3 | submitted | ||
| CIP2A EXPRESSION1 | ||||||||
| (prognostic) | Pancreatic Ductal Adenocarcinoma | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1117Expression of the protein CIP2A was investigated in 72 cases of pancreatic ductal adenocarcinoma and 27 cases of adjacent tissues. Immunohistochemistry revealed a significant difference in expression … (full text at CIViC) PMID 26894380 · Xu et al., 2016 · Open in CIViC | civic |
| CIP2A Underexpression1 | ||||||||
| Gemcitabine | Pancreatic Ductal Adenocarcinoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1118Researchers studied the effect of CIP2A expression in relation to gemcitabine sensitivity via SW1990 cell lines. SW1990 cells with CIP2A expression knocked-down displayed lower IC50 (p=.024), indicat… (full text at CIViC) PMID 26894380 · Xu et al., 2016 · Open in CIViC | civic |
| ARHGAP26 Fusion1 | ||||||||
| (oncogenic) | Malignant Gastric Neoplasm | Oncogenic | B | Supports Oncogenicity | 4 | submitted | EID12729In a TCGA study of 295 primary gastric adenocarcinomas, fresh frozen tumors underwent several molecular techniques copy number arrays, exome sequencing, RNA sequencing, and in a subset whole genome se… (full text at CIViC) PMID 25079317 · 2014 · Open in CIViC | civic |
| CLDN18 positive2 | ||||||||
| CAPOX Regimen + ZolbetuximabCombination | Gastric Adenocarcinoma | Predictive | A | Supports Sensitivity Response | 5 | submitted | EID12216In the phase 3 GLOW trial (NCT03653507), 507 patients with CLDN18.2-positive gastric or gastroesophageal junction adenocarcinoma were randomized 1:1 to receive either zolbetuximab combined with CAPOX … (full text at CIViC) PMID 37524953 · Shah et al., 2023 · Open in CIViC | civic |
| FOLFOX-6 Regimen + ZolbetuximabCombination | Gastric Adenocarcinoma | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID12215In the phase 3 SPOTLIGHT trial (NCT03504397), 565 patients with gastroesophageal junction adenocarcinoma were randomized to receive either zolbetuximab combined with mFOLFOX6 (n=283) or placebo with m… (full text at CIViC) PMID 37068504 · Shitara et al., 2023 · Open in CIViC | civic |
| CRKL Amplification1 | ||||||||
| Dasatinib | Malignant Gastric Neoplasm | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID6398CRKL amplification is observed in a subset of gastric cancers. MKN74 cells with CRKL amplification were responsive to the dual Src/BCR-ABL kinase inhibitor Dasatinib, likely via the inhibition of CRKL… (full text at CIViC) PMID 22591714 · Natsume et al., 2012 · Open in CIViC | civic |
| CTNNB1 Exon 3 Deletion2 | ||||||||
| (prognostic) | Malignant Colorectal NeoplasmCURATED_BROADER | Prognostic | B | Does Not Support Better Outcome | 4 | submitted | EID5517Frequency of point mutations in exon 3 β-catenin gene is low in our population. It would be interesting to increase the population size to test the clinically relevant influence in the prognosis found… (full text at CIViC) PMID 25313745 · Rafael et al., 2014 · Open in CIViC | civic |
| (diagnostic) | Hepatoblastoma | Diagnostic | B | Supports Positive | 2 | submitted | EID9662Characterization of hepatoblastoma (HB) with whole-exome sequencing identified recurrent CTNNB1 mutations in 12 of 15 tumors. All 12 impacted exon 3, including 4 missense mutations at position G34 (G3… (full text at CIViC) PMID 25135868 · Eichenmüller et al., 2014 · Open in CIViC | civic |
| CTNNB1 Exon 3 Mutation2 | ||||||||
| (diagnostic) | Hepatoblastoma | Diagnostic | B | Supports Positive | 3 | submitted | EID7922The authors analyzed 52 hepatoblastoma (HB) biopsies and three HB cell lines from sporadic HBs and found 48% of them bearing mutations on beta-catenin exon 3, which encodes the degradation targeting… (full text at CIViC) PMID 9927029 · Koch et al., 1999 · Open in CIViC | civic |
| 〃 | Hepatoblastoma | Diagnostic | B | Supports Positive | 2 | submitted | EID9663Characterization of hepatoblastoma (HB) with whole-exome sequencing identified recurrent CTNNB1 mutations in 12 of 15 tumors. All 12 impacted exon 3, including 4 missense mutations at position G34 (G3… (full text at CIViC) PMID 25135868 · Eichenmüller et al., 2014 · Open in CIViC | civic |
| CTNNB1 G34E1 | ||||||||
| (diagnostic) | Hepatoblastoma | Diagnostic | B | Supports Positive | 1 | submitted | EID9665Characterization of hepatoblastoma (HB) with whole-exome sequencing identified recurrent CTNNB1 mutations in 12 of 15 tumors. All 12 impacted exon 3, including 4 missense mutations at position G34 (G3… (full text at CIViC) PMID 25135868 · Eichenmüller et al., 2014 · Open in CIViC | civic |
| CTNNB1 G34V2 | ||||||||
| (diagnostic) | Hepatoblastoma | Diagnostic | B | Supports Positive | 2 | submitted | EID9664Characterization of hepatoblastoma (HB) with whole-exome sequencing identified recurrent CTNNB1 mutations in 12 of 15 tumors. All 12 impacted exon 3, including 4 missense mutations at position G34 (G3… (full text at CIViC) PMID 25135868 · Eichenmüller et al., 2014 · Open in CIViC | civic |
| 〃 | Hepatoblastoma | Diagnostic | E | Supports Positive | 2 | submitted | EID6973Five mutations resulted in amino acid substitutions in codons 32 and 34, suggesting an influence on the accessibility of the serine 33 for the GSK-3β kinase, preventing its phosphorylation (Fig. 2a) PMID 9927029 · Koch et al., 1999 · Open in CIViC | civic |
| CTNNB1 S37C1 | ||||||||
| Unspecified therapy | Hepatoblastoma | Predictive | E | Supports Sensitivity Response | 3 | submitted | EID6089The evidence from the literature describes the association of CTNNB1 mutation to Hepatoblastoma (HB) via detecting CTNNB1 mutation in HB cell lines through molecular techniques. In conclusion, 78% (21… (full text at CIViC) PMID 12101426 · Taniguchi et al., 2002 · Open in CIViC | civic |
| CTNNB1 T41A1 | ||||||||
| Unspecified therapy | Hepatoblastoma | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID6078Of 39 hepatoblastoma samples, 10 tumor samples had point mutations in exon 3 of beta-catenin gene. One mutation changes threonine at position 41 to alanine (T41A). PMID 16937357 · Sugawara et al., 2007 · Open in CIViC | civic |
| BRAF Fusion1 | ||||||||
| Vemurafenib | Malignant Pancreatic Neoplasm | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID5977The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment with pertuzumab plus trastuzumab, erlotinib, vemurafenib, or vismodegib, respectively. One of 23 pa… (full text at CIViC) PMID 29320312 · Hainsworth et al., 2018 · Open in CIViC | civic |
| CXCR4 EXPRESSION1 | ||||||||
| Docetaxel | Gastric Adenocarcinoma | Predictive | B | Supports Resistance | 2 | accepted | EID949CXCR4 expression as assessed by microarray analysis, was associated with resistance to docetaxel in 11 cancer cell lines (R^2 = 0.23, p = 0.019). Expression levels (by qtPCR) were also higher in resis… (full text at CIViC) PMID 20651371 · Xie et al., 2010 · Open in CIViC | civic |
| DCC EXPRESSION1 | ||||||||
| (prognostic) | Malignant Colorectal NeoplasmCURATED_BROADER | Prognostic | B | Supports Better Outcome | 3 | accepted | EID2972Expression of DCC was a strong positive predictive factor for survival in both stage II and stage III colorectal carcinomas. In patients with stage II disease whose tumors expressed DCC, the five-year… (full text at CIViC) PMID 8929264 · Shibata et al., 1996 · Open in CIViC | civic |
| DDR2 High expression1 | ||||||||
| Dasatinib | Malignant Gastric Neoplasm | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID9853Expression analysis of multiple cohorts of gastric cancer patients in addition to in vivo selected metastatic cell lines, identified DDR2 as the driver of peritoneal dissemination. Within the Singapor… (full text at CIViC) PMID 26934957 · Kurashige et al., 2016 · Open in CIViC | civic |
| DHFR Decreased RNA expression1 | ||||||||
| Fluorouracil | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID13310In HCT-116, HT-29, and SW620 colorectal cancer cells, shRNA-mediated reduction of DHFR expression significantly increased sensitivity to fluorouracil, as measured by decreased IC50. DHFR and GGH knock… (full text at CIViC) PMID 21449674 · Muhale et al., 2011 · Open in CIViC | civic |
| DKK1 NUCLEAR EXPRESSION1 | ||||||||
| Fluorouracil + Irinotecan + Levoleucovorin + OxaliplatinCombination | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | B | Supports Resistance | 3 | accepted | EID824Nuclear expression of DICKKOPF-1 was identified in 15% of 699 patients with colorectal cancer and was associated with decreased progression-free survival (PFS) and overall survival (OS) after chemothe… (full text at CIViC) PMID 25788273 · Aguilera et al., 2015 · Open in CIViC | civic |
| PRKACA Fusion3 | ||||||||
| (diagnostic) | Fibrolamellar Carcinoma | Diagnostic | B | Supports Positive | 5 | accepted | EID532RT-PCR and FISH assays were developed for the detection of rearrangements of the PRKACA locus. A total of 106 primary liver tumors were studied by RT-PCR (26 fibrolamellar carcinomas, 25 conventional … (full text at CIViC) PMID 25698061 · Graham et al., 2015 · Open in CIViC | civic |
| 〃 | Fibrolamellar Carcinoma | Diagnostic | B | Supports Positive | 4 | accepted | EID405A head-to-tail in-frame fusion between exon1 of DNAJB1 and exon2 of PRKACA resulting from a ~400kb deletion was observed in 100% (15/15) fibrolamellar hepatocellular carcinomas examined. The fusion wa… (full text at CIViC) PMID 24578576 · Honeyman et al., 2014 · Open in CIViC | civic |
| 〃 | Fibrolamellar Carcinoma | Diagnostic | B | Supports Positive | 4 | |||
| DNMT1 EXPRESSION1 | ||||||||
| Cisplatin | Gastric Adenocarcinoma | Predictive | B | Supports Resistance | 3 | accepted | EID946High DNMT1 expression was found in 105/127 (83%) or patients (by qPCR assay). Low DNMT1 expression was associated with improved histopathological and clinical response and OS in patients with gastric … (full text at CIViC) PMID 21458988 · Mutze et al., 2011 · Open in CIViC | civic |
| DPYS Decreased RNA expression1 | ||||||||
| Fluorouracil | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID13321shRNA-mediated depletion of DPYS expression significantly increased fluorouracil cytotoxicity in HCT-116, HT-29, and SW620 colorectal cancer cells, with approximately 3- to 7-fold decreases in IC50. PMID 21449674 · Muhale et al., 2011 · Open in CIViC | civic |
| DTYMK Decreased RNA expression1 | ||||||||
| Fluorouracil | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID13314shRNA-mediated DTYMK knockdown increased fluorouracil sensitivity, decreasing IC50 approximately threefold in HT-29 cells and fivefold in HCT-116 cells. PMID 21449674 · Muhale et al., 2011 · Open in CIViC | civic |
| DUT Decreased RNA expression1 | ||||||||
| Fluorouracil | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID13315Reduced DUT expression by shRNA increased fluorouracil sensitivity, producing approximately 13-fold and threefold reductions in IC50 in HCT-116 and SW620 cells, respectively. PMID 21449674 · Muhale et al., 2011 · Open in CIViC | civic |
| EFNA2 EXPRESSION1 | ||||||||
| Unspecified therapy | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | rejected | EID790226 cetuximab-treated patients with CRC were analyzed for mRNA expression of EGFR and its ligands. Favorable predictors in a multivariate analysis were high AREG mRNA in KRAS wild type tumours, high E… (full text at CIViC) PMID 23374602 · Pentheroudakis et al., 2013 · Open in CIViC | civic |
| EGFR Amplification4 | ||||||||
| (prognostic) | Barrett AdenocarcinomaALIAS | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID470In patients with Barrett's adenocarcinoma, those with amplification of EGFR had shorter disease-specific survial. PMID 20840671 · Marx et al., 2010 · Open in CIViC | civic |
| Cetuximab | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID91187 patients with metastatic colorectal cancer treated with cetuximab were retrospectively analyzed for EGFR amplifications by FISH. In multivariate analysis, EGFR amplification predicted response and … (full text at CIViC) PMID 18794099 · Personeni et al., 2008 · Open in CIViC | civic |
| 〃 | Gastric Adenocarcinoma | Predictive | B | Supports | ||||
| EGFR Amplification + SEPTIN14 FusionSEPTIN14EGFR2 | ||||||||
| (oncogenic) | Gastric Adenocarcinoma | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID11003A case report of a 49 year old female with gastric signet ring cell carcinoma, in whom a genomic screen of cf tumour DNA revealed an EGFR::SEPT14 fusion at a VAF of 45.3%. The fusion was confirmed by … (full text at CIViC) PMID 33969073 · Kim et al., 2021 · Open in CIViC | civic |
| Erlotinib | Colon Adenocarcinoma | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID10913Case report describing a 63-year-old patient with colorectal adenocarcinoma. He started treatment with XELOX and bevacizumab. After findings of disease progression, they changed to bevacizumab and FOL… (full text at CIViC) PMID 32162810 · Li et al., 2020 · Open in CIViC | civic |
| EGFR Alteration + EGFR Amplification1 | ||||||||
| Lenvatinib | Hepatocellular Carcinoma | Predictive | B | Supports Resistance | 3 | submitted | EID12052The ctDNA of 46 patients with hepatocellular carcinoma was analyzed to investigate whether EGFR alterations could lead to lenvatinib resistance. Among these patients, 16 had been treated with lenvatin… (full text at CIViC) PMID 36708791 · Lim et al., 2023 · Open in CIViC | civic |
| EGFR Amplification + MET AmplificationEGFRMET1 | ||||||||
| (prognostic) | Malignant Gastric Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID11453A total of 114 patients with gastric cancer were subject to genomic testing for amplified genes in this retrospective study. There were 4 MET amplifications, 3 EGFR amplifications, and 4 HER2 amplific… (full text at CIViC) PMID 22042947 · Lennerz et al., 2011 · Open in CIViC | civic |
| EGFR EGFRVIII1 | ||||||||
| Erlotinib | Colon Adenocarcinoma | Predictive | C | Supports Resistance | 2 | submitted | EID11116Case report describing a 63-year-old patient with colorectal adenocarcinoma with disease progression after treatment with XELOX-bevacizumab and bevacizumab-FOLFIRI. After the detection of EGFR aberrat… (full text at CIViC) PMID 32162810 · Li et al., 2020 · Open in CIViC | civic |
| EGFR Expression1 | ||||||||
| Cetuximab | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID1572Patients with refractory colorectal cancer expressing immunohistochemically detectable EGFR were randomly assigned to receive treatment with cetuximab (n=287) or receive supportive care alone (n=285).… (full text at CIViC) PMID 18003960 · Jonker et al., 2007 · Open in CIViC | civic |
Data updated 19 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.
CIC knockout conferred resistance to trametinib in KRAS G13D (HCT116) and BRAF V600E (HT29) colon cancer cell lines.
PMID 28178529 · Wang et al., 2017 · Open in CIViC
| civic |
| Vemurafenib | Malignant Colon Neoplasm | Predictive | D | Supports Resistance | 3 | submitted | EID5112CIC knockout conferred resistance to vemurafenib in BRAF V600E (HT29) colon cancer cells. PMID 28178529 · Wang et al., 2017 · Open in CIViC | civic |
| accepted |
EID754The DNAJB1-PRKACA fusion was detected in 79% (58/73) of fibrolamellar hepatocellular carcinomas assayed. PMID 25557953 · Cornella et al., 2015 · Open in CIViC |
| civic |
| 3 |
| submitted |
EID6927This retrospective analysis of a Phase 2 trial shows significant association between increased EGFR gene copy number (≥ 4.0) and overall survival (OS) in patients with gastric and oesophago-gastric ju… (full text at CIViC) PMID 22152101 · Luber et al., 2011 · Open in CIViC |
| civic |
| Cetuximab + PanitumumabSubstitutes | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID854In this meta-analysis (14 studies, 1021 patients), EGFR gene copy number (GCN) was predictive of improved progression free survival (PFS) and overall survival (OS) with cetuximab or panitumumab regard… (full text at CIViC) PMID 24653627 · Shen et al., 2014 · Open in CIViC | civic |