U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Activating ERK Family Gene Mutation

MedGen UID:
1704518
•Concept ID:
C5205623
•
Cell or Molecular Dysfunction
Synonyms: Activating ERK Mutation; Activating Extracellular Signal-Regulated Kinase Family Gene Mutation; Activating MAPK Family Gene Mutation; Activating MAPK Mutation; Activating Mitogen-Activated Protein Kinase Family Gene Mutation

Definition

A mutation in a ERK family gene that encodes a constitutively active MAP family serine/threonine-protein kinase and results in aberrant activation of its downstream pathways. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVActivating ERK Family Gene Mutation

Professional guidelines

PubMed

Elevated expression of RIT1 hyperactivates RAS/MAPK signal and sensitizes hepatocellular carcinoma to combined treatment with sorafenib and AKT inhibitor.
Sun L, Xi S, Zhou Z, Zhang F, Hu P, Cui Y, Wu S, Wang Y, Wu S, Wang Y, Du Y, Zheng J, Yang H, Chen M, Yan Q, Yu D, Shi C, Zhang Y, Xie D, Guan XY, Li Y
Oncogene 2022 Jan;41(5):732-744. Epub 2021 Nov 29 doi: 10.1038/s41388-021-02130-8. PMID: 34845378

Recent clinical studies

Etiology

Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis.
Chen J, Xu X, Chen S, Lu T, Zheng Y, Gan Z, Shen Z, Ma S, Wang D, Su L, He F, Shang X, Xu H, Chen D, Zhang L, Xiong F
Int J Oral Sci 2023 Sep 26;15(1):46. doi: 10.1038/s41368-023-00244-1. PMID: 37752101Free PMC Article
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, Di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernández-Jaén A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Lißewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, Álvarez S, Martínez-García M, De Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE, Martinelli S, Flex E, Tartaglia M
Am J Hum Genet 2020 Sep 3;107(3):499-513. Epub 2020 Jul 27 doi: 10.1016/j.ajhg.2020.06.018. PMID: 32721402Free PMC Article
Loss of RASSF4 Expression in Multiple Myeloma Promotes RAS-Driven Malignant Progression.
De Smedt E, Maes K, Verhulst S, Lui H, Kassambara A, Maes A, Robert N, Heirman C, Cakana A, Hose D, Breckpot K, van Grunsven LA, De Veirman K, Menu E, Vanderkerken K, Moreaux J, De Bruyne E
Cancer Res 2018 Mar 1;78(5):1155-1168. Epub 2017 Dec 19 doi: 10.1158/0008-5472.CAN-17-1544. PMID: 29259009
RAS diseases in children.
Niemeyer CM
Haematologica 2014 Nov;99(11):1653-62. doi: 10.3324/haematol.2014.114595. PMID: 25420281Free PMC Article
Striatal response to reward anticipation: evidence for a systems-level intermediate phenotype for schizophrenia.
Grimm O, Heinz A, Walter H, Kirsch P, Erk S, Haddad L, Plichta MM, Romanczuk-Seiferth N, Pöhland L, Mohnke S, Mühleisen TW, Mattheisen M, Witt SH, Schäfer A, Cichon S, Nöthen M, Rietschel M, Tost H, Meyer-Lindenberg A
JAMA Psychiatry 2014 May;71(5):531-9. doi: 10.1001/jamapsychiatry.2014.9. PMID: 24622944

Diagnosis

Combination Therapies with CDK4/6 Inhibitors to Treat KRAS-Mutant Pancreatic Cancer.
Goodwin CM, Waters AM, Klomp JE, Javaid S, Bryant KL, Stalnecker CA, Drizyte-Miller K, Papke B, Yang R, Amparo AM, Ozkan-Dagliyan I, Baldelli E, Calvert V, Pierobon M, Sorrentino JA, Beelen AP, Bublitz N, Lüthen M, Wood KC, Petricoin EF, Sers C, McRee AJ, Cox AD, Der CJ
Cancer Res 2023 Jan 4;83(1):141-157. doi: 10.1158/0008-5472.CAN-22-0391. PMID: 36346366Free PMC Article
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M
Circulation 2017 Sep 12;136(11):1037-1048. Epub 2017 Jul 7 doi: 10.1161/CIRCULATIONAHA.116.026886. PMID: 28687708
RAS diseases in children.
Niemeyer CM
Haematologica 2014 Nov;99(11):1653-62. doi: 10.3324/haematol.2014.114595. PMID: 25420281Free PMC Article
Nodal signaling promotes a tumorigenic phenotype in human breast cancer.
Kirsammer G, Strizzi L, Margaryan NV, Gilgur A, Hyser M, Atkinson J, Kirschmann DA, Seftor EA, Hendrix MJ
Semin Cancer Biol 2014 Dec;29:40-50. Epub 2014 Jul 26 doi: 10.1016/j.semcancer.2014.07.007. PMID: 25073112Free PMC Article
The cardiofaciocutaneous syndrome.
Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G
J Med Genet 2006 Nov;43(11):833-42. Epub 2006 Jul 6 doi: 10.1136/jmg.2006.042796. PMID: 16825433Free PMC Article

Therapy

Potential clinical use of azacitidine and MEK inhibitor combination therapy in PTPN11-mutated juvenile myelomonocytic leukemia.
Pasupuleti SK, Chao K, Ramdas B, Kanumuri R, Palam LR, Liu S, Wan J, Annesley C, Loh ML, Stieglitz E, Burke MJ, Kapur R
Mol Ther 2023 Apr 5;31(4):986-1001. Epub 2023 Feb 3 doi: 10.1016/j.ymthe.2023.01.030. PMID: 36739480Free PMC Article
Combination Therapies with CDK4/6 Inhibitors to Treat KRAS-Mutant Pancreatic Cancer.
Goodwin CM, Waters AM, Klomp JE, Javaid S, Bryant KL, Stalnecker CA, Drizyte-Miller K, Papke B, Yang R, Amparo AM, Ozkan-Dagliyan I, Baldelli E, Calvert V, Pierobon M, Sorrentino JA, Beelen AP, Bublitz N, Lüthen M, Wood KC, Petricoin EF, Sers C, McRee AJ, Cox AD, Der CJ
Cancer Res 2023 Jan 4;83(1):141-157. doi: 10.1158/0008-5472.CAN-22-0391. PMID: 36346366Free PMC Article
Double-edged roles of protein tyrosine phosphatase SHP2 in cancer and its inhibitors in clinical trials.
Song Y, Zhao M, Zhang H, Yu B
Pharmacol Ther 2022 Feb;230:107966. Epub 2021 Aug 14 doi: 10.1016/j.pharmthera.2021.107966. PMID: 34403682
Targeting miR-126 in inv(16) acute myeloid leukemia inhibits leukemia development and leukemia stem cell maintenance.
Zhang L, Nguyen LXT, Chen YC, Wu D, Cook GJ, Hoang DH, Brewer CJ, He X, Dong H, Li S, Li M, Zhao D, Qi J, Hua WK, Cai Q, Carnahan E, Chen W, Wu X, Swiderski P, Rockne RC, Kortylewski M, Li L, Zhang B, Marcucci G, Kuo YH
Nat Commun 2021 Oct 22;12(1):6154. doi: 10.1038/s41467-021-26420-7. PMID: 34686664Free PMC Article
Deconvoluting the role of reactive oxygen species and autophagy in human diseases.
Wen X, Wu J, Wang F, Liu B, Huang C, Wei Y
Free Radic Biol Med 2013 Dec;65:402-410. Epub 2013 Jul 18 doi: 10.1016/j.freeradbiomed.2013.07.013. PMID: 23872397

Prognosis

RAS-independent ERK activation by constitutively active KSR3 in non-chordate metazoa.
Chessel A, De Crozé N, Molina MD, Taberner L, Dru P, Martin L, Lepage T
Nat Commun 2023 Jul 5;14(1):3970. doi: 10.1038/s41467-023-39606-y. PMID: 37407549Free PMC Article
Increased SPRY1 expression activates NF-κB signaling and promotes pancreatic cancer progression by recruiting neutrophils and macrophages through CXCL12-CXCR4 axis.
Shi T, Li X, Zheng J, Duan Z, Ooi YY, Gao Y, Wang Q, Yang J, Wang L, Yao L
Cell Oncol (Dordr) 2023 Aug;46(4):969-985. Epub 2023 Apr 4 doi: 10.1007/s13402-023-00791-z. PMID: 37014552
IL-7: Comprehensive review.
Winer H, Rodrigues GOL, Hixon JA, Aiello FB, Hsu TC, Wachter BT, Li W, Durum SK
Cytokine 2022 Dec;160:156049. Epub 2022 Oct 3 doi: 10.1016/j.cyto.2022.156049. PMID: 36201890
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard AA, Simsek-Kiper PO, Gulec EY, Essaddam L, Utine GE, Guarnetti Prandi I, Venditti M, Pantaleoni F, Radio FC, Ciolfi A, Petrini S, Consoli F, Vignal C, Hepbasli D, Ullrich M, de Boer E, Vissers LELM, Gritli S, Rossi C, De Luca A, Ben Becher S, Gelb BD, Dallapiccola B, Lauri A, Chillemi G, Schuh K, Cavé H, Zenker M, Tartaglia M
Am J Hum Genet 2021 Nov 4;108(11):2112-2129. Epub 2021 Oct 8 doi: 10.1016/j.ajhg.2021.09.007. PMID: 34626534Free PMC Article
RAS diseases in children.
Niemeyer CM
Haematologica 2014 Nov;99(11):1653-62. doi: 10.3324/haematol.2014.114595. PMID: 25420281Free PMC Article

Clinical prediction guides

The discrete roles of individual FOXO transcription factor family members in B-cell malignancies.
Lees J, Hay J, Moles MW, Michie AM
Front Immunol 2023;14:1179101. Epub 2023 May 18 doi: 10.3389/fimmu.2023.1179101. PMID: 37275916Free PMC Article
Potential clinical use of azacitidine and MEK inhibitor combination therapy in PTPN11-mutated juvenile myelomonocytic leukemia.
Pasupuleti SK, Chao K, Ramdas B, Kanumuri R, Palam LR, Liu S, Wan J, Annesley C, Loh ML, Stieglitz E, Burke MJ, Kapur R
Mol Ther 2023 Apr 5;31(4):986-1001. Epub 2023 Feb 3 doi: 10.1016/j.ymthe.2023.01.030. PMID: 36739480Free PMC Article
IL-7: Comprehensive review.
Winer H, Rodrigues GOL, Hixon JA, Aiello FB, Hsu TC, Wachter BT, Li W, Durum SK
Cytokine 2022 Dec;160:156049. Epub 2022 Oct 3 doi: 10.1016/j.cyto.2022.156049. PMID: 36201890
Downregulation of B3GNT6 is a predictor of poor outcomes in patients with colorectal cancer.
Xiao S, Yang C, Zhang Y, Lai C
World J Surg Oncol 2022 Apr 7;20(1):110. doi: 10.1186/s12957-022-02561-x. PMID: 35387659Free PMC Article
Neurofilaments in health and disease.
Julien JP, Mushynski WE
Prog Nucleic Acid Res Mol Biol 1998;61:1-23. doi: 10.1016/s0079-6603(08)60823-5. PMID: 9752717

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...