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Activating HRAS Mutation

MedGen UID:
1635640
•Concept ID:
C4682500
•
Cell or Molecular Dysfunction
Synonyms: C-H-RAS Activating Mutation; C-HA-RAS1 Activating Mutation; H-ras Activating Mutation; Ha-ras Activating Mutation; Harvey Rat Sarcoma Viral Oncogene Homolog Activating Mutation; HRAS Activating Mutation; HRas Proto-Oncogene, GTPase Activating Mutation; HRAS1 Activating Mutation; RASH1 Activating Mutation

Definition

A change in the nucleotide sequence of the HRAS gene that that results in constitutive activation of both oncogene H-Ras protein and its downstream signaling pathways. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVActivating HRAS Mutation

Professional guidelines

PubMed

Significance of YAP1-MAML2 rearrangement and GTF2I mutation in the diagnosis and differential diagnosis of metaplastic thymoma.
Wang M, Xu H, Han Q, Wang L
Ann Med 2023;55(2):2237040. doi: 10.1080/07853890.2023.2237040. PMID: 37489594Free PMC Article
HRAS overexpression predicts response to Lenvatinib treatment in gastroenteropancreatic neuroendocrine tumors.
Liverani C, Spadazzi C, Ibrahim T, Pieri F, Foca F, Calabrese C, De Vita A, Miserocchi G, Cocchi C, Vanni S, Ercolani G, Cavaliere D, Ranallo N, Chiadini E, Prisinzano G, Severi S, Sansovini M, Martinelli G, Bongiovanni A, Mercatali L
Front Endocrinol (Lausanne) 2022;13:1045038. Epub 2023 Jan 20 doi: 10.3389/fendo.2022.1045038. PMID: 36743926Free PMC Article
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA
Am J Med Genet A 2019 Sep;179(9):1725-1744. Epub 2019 Jun 20 doi: 10.1002/ajmg.a.61270. PMID: 31222966Free PMC Article

Recent clinical studies

Diagnosis

Activating HRAS mutation in a case of inverted ductal papilloma of the salivary gland.
Ide F, Ito Y, Kikuchi K, Satomura K, Ogawa I, Yamamoto H
Pathol Int 2021 Dec;71(12):844-848. Epub 2021 Sep 21 doi: 10.1111/pin.13166. PMID: 34547823

Therapy

Tipifarnib in recurrent, metastatic HRAS-mutant salivary gland cancer.
Hanna GJ, Guenette JP, Chau NG, Sayehli CM, Wilhelm C, Metcalf R, Wong DJ, Brose M, Razaq M, Pérez-Ruiz E, Cohen EEW, Aggarwal R, Scholz C, Gualberto A, Ho AL
Cancer 2020 Sep 1;126(17):3972-3981. Epub 2020 Jun 18 doi: 10.1002/cncr.33036. PMID: 32557577Free PMC Article

Prognosis

Tipifarnib in recurrent, metastatic HRAS-mutant salivary gland cancer.
Hanna GJ, Guenette JP, Chau NG, Sayehli CM, Wilhelm C, Metcalf R, Wong DJ, Brose M, Razaq M, Pérez-Ruiz E, Cohen EEW, Aggarwal R, Scholz C, Gualberto A, Ho AL
Cancer 2020 Sep 1;126(17):3972-3981. Epub 2020 Jun 18 doi: 10.1002/cncr.33036. PMID: 32557577Free PMC Article

Clinical prediction guides

Tipifarnib in recurrent, metastatic HRAS-mutant salivary gland cancer.
Hanna GJ, Guenette JP, Chau NG, Sayehli CM, Wilhelm C, Metcalf R, Wong DJ, Brose M, Razaq M, Pérez-Ruiz E, Cohen EEW, Aggarwal R, Scholz C, Gualberto A, Ho AL
Cancer 2020 Sep 1;126(17):3972-3981. Epub 2020 Jun 18 doi: 10.1002/cncr.33036. PMID: 32557577Free PMC Article
Phacomatosis pigmentokeratotica: a case of HRAS mosaicism causing rhabdomyosarcoma.
Prieto-Barrios M, Llamas-Martin R, Velasco-Tamariz V, Calleja-Algarra A, Ruano Y, Ortiz-Romero PL, Rodriguez-Peralto JL
Br J Dermatol 2018 Nov;179(5):1163-1167. Epub 2018 May 9 doi: 10.1111/bjd.16435. PMID: 29430633
Activating HRAS mutation in agminated Spitz nevi arising in a nevus spilus.
Sarin KY, Sun BK, Bangs CD, Cherry A, Swetter SM, Kim J, Khavari PA
JAMA Dermatol 2013 Sep;149(9):1077-81. doi: 10.1001/jamadermatol.2013.4745. PMID: 23884457

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