Cancer Family
Neck Neoplasm
CI-CAN-00000283Explore in graph →
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Cancer Family
CI-CAN-00000283Explore in graph →
Variants & evidence
138 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 |
|---|---|---|---|---|---|---|---|---|
| BRAF V600E8 | ||||||||
| Vemurafenib | Laryngeal Squamous Cell Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID5962The 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 patient … (full text at CIViC) PMID 29320312 · Hainsworth et al., 2018 · Open in CIViC | civic |
| 〃 | Thyroid Gland Papillary CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | — | submitted | EID3773In a retrospective study of 17 papillary thyroid cancer patients, patients with BRAF V600E mutation (n=6) were associated with a 47% (7/15) partial response rate and a 53% (8/15) stable disease rate. PMID 25353071 · Dadu et al., 2015 · Open in CIViC | civic |
| 〃 | Thyroid Gland Papillary CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | — | submitted | EID3774In a clinical trial (NCT01286753) of 55 cancer patients with BRAF V600E mutation, patients with metastatic papillary thyroid cancer (n=3) were associated with sensitivity to vemurafenib treatment. One… (full text at CIViC) PMID 23489023 · Kim et al., 2013 · Open in CIViC | civic |
| 〃 | Malignant Thyroid Gland Neoplasm | Predictive | D | Supports Sensitivity Response | — | submitted | EID3760Thyroid cancer cell lines with BRAF V600E mutations were more sensitive to vemurafenib than those with wildtype BRAF (IC50: 0.115� 1.156 uM vs. 56.674�1349.788 uM). PMID 18458053 · Sala et al., 2008 · Open in CIViC | civic |
| 〃 | Thyroid Gland Carcinoma | Predictive | D | Supports Sensitivity Response | — | submitted | EID3784In an in vitro study, BRAF V600E expressing cell lines (BCPAP, OCUT1, K1 and SW1736) demonstrated increased sensitivity to vemurafenib treatment, compared to BRAF wild-type expressing cells (FTC133, K… (full text at CIViC) PMID 21185263 · Xing et al., 2011 · Open in CIViC | civic |
| 〃 | Thyroid Gland Carcinoma | Predictive | D | Supports Sensitivity Response | — | submitted | EID3785In an in vitro study, the BCPAP cell line expressing a BRAF V600E mutation was associated with sensitivity to vemurafenib treatment. Sensitivity was determined by assessing cell viability and apoptoti… (full text at CIViC) PMID 26456083 · Byeon et al., 2016 · Open in CIViC | civic |
| Pertuzumab + VemurafenibCombination | Thyroid Gland Anaplastic CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID5961The 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 patient … (full text at CIViC) PMID 29320312 · Hainsworth et al., 2018 · Open in CIViC | civic |
| Radiation Therapy + VemurafenibCombination | Thyroid Gland Anaplastic CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID3743A 51 year old male anaplastic thyroid cancer patient harboring BRAF V600E experienced rapid improvement in response to vemurafenib. The patient was initially treated with paclitaxel and carboplatin bu… (full text at CIViC) PMID 23406047 · Rosove et al., 2013 · Open in CIViC | civic |
| CCND1 Overexpression1 | ||||||||
| Ribociclib | Thyroid Gland Anaplastic CarcinomaALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID7790Study observed the effects of ribociclib (LEE011) on anaplastic thyroid cancer (ATC) and papillary thyroid cancer (PTC) cells. qRT-PCR found Cyclin D1 mRNA to have significantly higher expression in A… (full text at CIViC) PMID 29306020 · Lee et al., 2018 · Open in CIViC | civic |
| CD274 Expression2 | ||||||||
| (prognostic) | Thyroid Gland Papillary CarcinomaALIAS | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1274Immunohistochemical analyses of PD-L1 protein was retrospectively performed on 251 archived FFPE surgical tissues (66 benign thyroid nodules and 185 papillary thyroid carcinomas PTC, E1L3N antibody). … (full text at CIViC) PMID 27086918 · Chowdhury et al., 2016 · Open in CIViC | civic |
| Nivolumab | Malignant Nasopharyngeal NeoplasmALIAS | Predictive | B | Supports Sensitivity Response | 1 | submitted | EID9010In a Clinic Phase 2 Consortium, 44 patients with metastatic nasopharyngeal carcinoma had an overall response rate (ORR) to nivolumab of 20.5%; 1 complete response lasting over 12 months; 8 partial res… (full text at CIViC) PMID 29584545 · Ma et al., 2018 · Open in CIViC | civic |
| CDKN2A p16 Expression2 | ||||||||
| (prognostic) | Malignant Oropharyngeal NeoplasmALIAS | Prognostic | A | Supports Better Outcome | 4 | accepted | EID758720 patients with stage III/IV oropharyngeal cancer were retrospectively analyzed for p16 and HPV status. p16 and HPV-positivity correlated well and both showed improved overall-survival compared to p… (full text at CIViC) PMID 20530316 · Ang et al., 2010 · Open in CIViC | civic |
| Cetuximab | Malignant Oropharyngeal NeoplasmALIAS | Predictive | B | Does Not Support Resistance | 4 | accepted | EID759This study shows that benefit of EGFR inhibition in addition to radiotherapy was independent of p16/HPV status. 182 patients were evaluated. PMID 26712222 · Rosenthal et al., 2016 · Open in CIViC | civic |
| NTRK3 Fusion2 | ||||||||
| (oncogenic) | Poorly Differentiated Thyroid Gland CarcinomaALIAS | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID10508From a retrospective review of 38,095 tumor samples from 33,997 patients using DNA sequencing (MSK-IMPACT) and RNA sequencing (MSK-Fusion panel) identified 87 tumors with NTRK1-3 fusions. One case of … (full text at CIViC) PMID 31375766 · Solomon et al., 2020 · Open in CIViC | civic |
| Entrectinib | Thyroid Gland Papillary CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID10635Of 351 primary thyroid carcinoma patients assessed by targeted gene rearrangement next-generation assay, 11 cases (3.1%) had NTRK rearrangement. Only one case of EML4::NTRK3 fusion (e2,e13) with an in… (full text at CIViC) PMID 32457407 · Chu et al., 2020 · Open in CIViC | civic |
| NTRK2 Fusion + TERT c.-124C.TTERTNTRK21 | ||||||||
| Larotrectinib | Thyroid Gland Papillary CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID11278A 53 year old female patient had PTC treated with surgery and multiple brain metastases. TERT c.-124C.T mutation and ETV6::NTRK2 fusion was found in pleural biopsy and cerebellar resection specimens.… (full text at CIViC) PMID 35171659 · Park et al., 2022 · Open in CIViC | civic |
| NTRK3 Fusion1 | ||||||||
| (prognostic) | Thyroid Gland Papillary CarcinomaALIAS | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID6474Prasad et al queried the histopathology of 28 Papillary Thyroid Carcinomas (PTCs) from patients ages 6-18 years (20 females, 8 males). None had significant exposure to radiation. 5 / 27 PTCs (18.5%) h… (full text at CIViC) PMID 26784937 · Prasad et al., 2016 · Open in CIViC | civic |
| FGFR3 K508M1 | ||||||||
| (oncogenic) | Malignant Nasopharyngeal NeoplasmALIAS | Oncogenic | D | Does Not Support Oncogenicity | 2 | submitted | EID11797Paper analysing FGFR3-TACC3 frequency and oncogenicity in nasopharyngeal carcinoma. FGFR3-TACC3-K508M in HNE1 and HK1 NPC cell lines showed a significant reduction of cellular proliferation in the col… (full text at CIViC) PMID 25535896 · Yuan et al., 2014 · Open in CIViC | civic |
| GNAS R201H1 | ||||||||
| Radioactive Iodine | Thyroid Gland Follicular CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID3045A 79 year old patient with prior 5-year history of Graves' disease presented with follicular thyroid carcinoma. Two mutations NRAS p.Q61K and GNAS p.R201H were detected. The thyroid cancer manifested … (full text at CIViC) PMID 26788326 · Lu et al., 2016 · Open in CIViC | civic |
| HRAS G13R1 | ||||||||
| Vemurafenib | Thyroid Gland Carcinoma | Predictive | D | Supports Resistance | — | submitted | EID3853In an in vitro study, a C643 cell line expressing HRAS G13R demonstrated reduced sensitivity to vemurafenib treatment, compared to BRAF V600E expressing cells (8505C, SWI1736, BHT101 and BCPAP). Sensi… (full text at CIViC) PMID 19880792 · Salerno et al., 2010 · Open in CIViC | civic |
| HRAS Q611 | ||||||||
| (prognostic) | Thyroid Gland Follicular CarcinomaALIAS | Prognostic | B | Does Not Support Poor Outcome | 2 | accepted | EID6960Follicular thyroid cancers harboring RAS mutations have limited aggressiveness in the absence of TERT mutations. 2/2 follicular thyroid cancer patients with co-mutations in NRAS (10 Q61R and 1 Q61K) o… (full text at CIViC) PMID 25448848 · Muzza et al., 2015 · Open in CIViC | civic |
| KRAS G12D1 | ||||||||
| (prognostic) | Thyroid Gland Carcinoma | Prognostic | D | Supports Better Outcome | 3 | submitted | EID6962TPO-CRE mediated, thyroid specific KRAS G12D expression was unable to tranform thyroid follicular cells alone, indicating these mutations require co-operating events to cause invasion and metastatic d… (full text at CIViC) PMID 19351816 · Miller et al., 2009 · Open in CIViC | civic |
| KRAS G12R2 | ||||||||
| Dasatinib | Malignant Thyroid Gland Neoplasm | Predictive | D | Supports Sensitivity Response | — | submitted | EID3997In an in vitro study, a thyroid cancer cell line, CAL62, which harbors the KRAS G12R mutation, was associated with increased sensitivity to dasatinib treatment (IC50: 35nM). Sensitivity was determined… (full text at CIViC) PMID 22740998 · Chan et al., 2012 · Open in CIViC | civic |
| Vemurafenib | Thyroid Gland Carcinoma | Predictive | D | Supports Resistance | — | submitted | EID3999In an in vitro study, a CAL62 cell line expressing KRAS G12R demonstrated reduced sensitivity to vemurafenib treatment, compared to BRAF V600E expressing cells (8505C, SWI1736, BHT101 and BCPAP). Sens… (full text at CIViC) PMID 19880792 · Salerno et al., 2010 · Open in CIViC | civic |
| MEN1 FRAMESHIFT TRUNCATION1 | ||||||||
| (diagnostic) | Thyroid Gland Oncocytic CarcinomaALIAS | Diagnostic | C | Supports Positive | 2 | accepted | EID1695Two patients diagnosed with oncocytic thyroid carcinoma (hurthle cell thyroid carcinoma) were evaluated for MEN1 mutations. One tumor showed 592-end deletion of MEN1 and the other showed a 521 frames… (full text at CIViC) PMID 25625803 · Kasaian et al., 2015 · Open in CIViC | civic |
| MTOR F2108L1 | ||||||||
| Everolimus | Thyroid Gland Anaplastic CarcinomaALIAS | Predictive | C | Supports Resistance | 5 | accepted | EID1110After an 18-month sustained response to everolimus (in a patient with metastatic anaplastic thyroid carcinoma whose pretreatment tumor harbored a TSC2 Q1178* inactivating mutation, see EID1108), the r… (full text at CIViC) PMID 25295501 · Wagle et al., 2014 · Open in CIViC | civic |
| ND1 c.1971T>G1 | ||||||||
| (predisposing) | Malignant Thyroid Gland Neoplasm | Predisposing | C | Supports Predisposition | 2 | submitted | EID11546The variant was diagnosed by WES in 4 family members with familial non-medullary thyroid carcinoma (FNMTC), in three consecutive generations. PMID 34941562 · de Mello et al., 2022 · Open in CIViC | civic |
| NF2 Loss1 | ||||||||
| Selumetinib | Thyroid Gland Carcinoma | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID1742NF2 loss promotes oncogenic RAS-signaling via YAP-dependent transactivation of RAS and sensitizes to MEK inhibition. The authors demonstrate this in (A) isogenic lines derived from C643 cells (HRASG13… (full text at CIViC) PMID 26359368 · Garcia-Rendueles et al., 2015 · Open in CIViC | civic |
| NRAS Q613 | ||||||||
| (prognostic) | Thyroid Gland Follicular CarcinomaALIAS | Prognostic | B | Supports N/A | 3 | accepted | EID497In patients with follicular thyroid carcinoma, those with mutations in NRAS at codon 61 did not have significantly different overall survival than patients with wild-type NRAS (p=0.36). PMID 22650231 · Fukahori et al., 2012 · Open in CIViC | civic |
| 〃 | Thyroid Gland Follicular CarcinomaALIAS | Prognostic | B | Does Not Support Poor Outcome | 2 | accepted | EID6959Follicular thyroid cancers harboring RAS mutations have limited aggressiveness in the absence of TERT mutations. 2/2 follicular thyroid cancer patients with co-mutations in NRAS (10 Q61R and 1 Q61K) o… (full text at CIViC) PMID 25448848 · Muzza et al., 2015 · Open in CIViC | civic |
| 〃 | Thyroid Gland Follicular CarcinomaALIAS | |||||||
| NRAS Q61R1 | ||||||||
| Vemurafenib | Thyroid Gland Carcinoma | Predictive | D | Supports Resistance | — | submitted | EID3831In an in vitro study, a HTH7 cell line expressing NRAS Q61R demonstrated reduced sensitivity to vemurafenib treatment, compared to BRAF V600E expressing cells (8505C, SWI1736, BHT101 and BCPAP). Sensi… (full text at CIViC) PMID 19880792 · Salerno et al., 2010 · Open in CIViC | civic |
| PPARG Fusion1 | ||||||||
| (diagnostic) | Thyroid Gland Follicular CarcinomaALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID498PAX8–PPARG gene fusions were found in 12/33 follicular thyroid carcinoma tumor samples, but were rarely found in thyroid Hürthle cell tumors. PMID 12727991 · Nikiforova et al., 2003 · Open in CIViC | civic |
| PIK3CA E542K1 | ||||||||
| Perifosine + TemsirolimusSubstitutes | Malignant Thyroid Gland Neoplasm | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1626Preclinical study in thyroid cancer cell lines. 6 cell lines with alterations of the PI3K/Akt pathway were more sensitive to Akt inhibitor perifosine or MTOR inhibitor temsirolimus than 5 cell lines w… (full text at CIViC) PMID 19706758 · Liu et al., 2009 · Open in CIViC | civic |
| PIK3CA H1047R1 | ||||||||
| Perifosine + TemsirolimusSubstitutes | Malignant Thyroid Gland Neoplasm | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1625Preclinical study in thyroid cancer cell lines. 6 cell lines with alterations of the PI3K/Akt pathway were more sensitive to Akt inhibitor perifosine or MTOR inhibitor temsirolimus than 5 cell lines w… (full text at CIViC) PMID 19706758 · Liu et al., 2009 · Open in CIViC | civic |
| PIK3CA Mutation1 | ||||||||
| Akt Inhibitor MK2206 | Malignant Thyroid Gland Neoplasm | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12720In thyroid cancer cell lines, MK2206 selectively inhibited the proliferation of cells harboring PI3K/Akt pathway activating mutations (PIK3CA, PTEN, RAS or RET/PTC) with IC50 values mostly below or ar… (full text at CIViC) PMID 21289267 · Liu et al., 2011 · Open in CIViC | civic |
| PTEN R130*1 | ||||||||
| Perifosine + TemsirolimusSubstitutes | Malignant Thyroid Gland Neoplasm | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID1627Preclinical study in thyroid cancer cell lines. 6 cell lines with alterations of the PI3K/Akt pathway were more sensitive to Akt inhibitor perifosine or MTOR inhibitor temsirolimus than 5 cell lines w… (full text at CIViC) PMID 19706758 · Liu et al., 2009 · Open in CIViC | civic |
| PTPN11 Overexpression1 | ||||||||
| (prognostic) | Laryngeal Carcinoma | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID1316Study explored the expression of the PTPN11 protein (SHP2) and found that expression was increased in a cohort of 112 laryngeal cancer samples. Expression was also associated with poor survival (p=.02… (full text at CIViC) PMID 24297342 · Gu et al., 2014 · Open in CIViC | civic |
| RET C609Y2 | ||||||||
| (predisposing) | Thyroid Gland Medullary CarcinomaALIAS | Predisposing | B | Supports Predisposition | 4 | accepted | EID2913Study 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 | civic |
| 〃 | Thyroid Gland Medullary CarcinomaALIAS | Predisposing | E | Supports Uncertain Significance | 3 | submitted | EID2914This 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 | civic |
| RET C634R1 | ||||||||
| (diagnostic) | Thyroid Gland Medullary CarcinomaALIAS | Diagnostic | B | Supports Positive | 3 | submitted | EID4894Sixty-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 | civic |
| RET C634W2 | ||||||||
| Axitinib | Thyroid Gland Medullary CarcinomaALIAS | Predictive | D | Supports Resistance | — | submitted | EID3694In 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 | civic |
| Motesanib | Thyroid Gland Medullary CarcinomaALIAS | Predictive | D | Supports Resistance | 3 | accepted | EID75Medullary 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 | civic |
| RET D378_G685>E1 | ||||||||
| Selpercatinib | Thyroid Gland Medullary CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID11658A 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 | civic |
| RET D898_E901del + RET E632_L633del1 | ||||||||
| (oncogenic) | Thyroid Gland Medullary CarcinomaALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID12710In 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 | civic |
| RET E632_L633del3 | ||||||||
| Selpercatinib | Thyroid Gland Medullary CarcinomaALIAS | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID11875Among 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 | civic |
| 〃 | Thyroid Gland Medullary CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID12716A 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 | civic |
| 〃 | Thyroid Gland Medullary Carcinoma | |||||||
| RET G810S1 | ||||||||
| Pralsetinib + SelpercatinibSubstitutes | Thyroid Gland Medullary CarcinomaALIAS | Predictive | C | Supports Resistance | 4 | submitted | EID8919Cell-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 | civic |
| RET M918T1 | ||||||||
| (oncogenic) | Thyroid Gland Medullary CarcinomaALIAS | Oncogenic | B | Supports Oncogenicity | 3 | accepted | EID12800In 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 | civic |
Data updated 20 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.
| Prognostic |
| B |
| Supports Poor Outcome |
| 2 |
| submitted |
EID7104Retrospective analysis of thyroid carcinoma patients from a single institution identified 33/58 patients with follicular carcinomas had any RAS mutations (NRAS, KRAS, or HRAS at codons 12 or 61), 22 o… (full text at CIViC) PMID 22650231 · Fukahori et al., 2012 · Open in CIViC |
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| Predictive |
| C |
| Does Not Support Sensitivity Response |
| 2 |
| submitted |
EID12714A 35 yr old man presented with a 9 month history of worsening right side flank pain and no significant family history. Calcitonin was elevated. After imaging, total thyroidectomy with modified radica… (full text at CIViC) PMID 36416226 · Wijewardene et al., 2023 · Open in CIViC |
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