U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

EIF1AX Gene Mutation

MedGen UID:
1742959
Concept ID:
C5420811
Cell or Molecular Dysfunction
Synonyms: eIF-1A Gene Mutation; eIF-4C Gene Mutation; EIF1A Gene Mutation; EIF1AP1 Gene Mutation; EIF4C Gene Mutation; Eukaryotic Translation Initiation Factor 1A X-Linked Gene Mutation

Definition

A change in the nucleotide sequence of the EIF1AX gene. [from NCI]

Professional guidelines

PubMed

van Poppelen NM, de Bruyn DP, Bicer T, Verdijk R, Naus N, Mensink H, Paridaens D, de Klein A, Brosens E, Kiliҫ E
Int J Mol Sci 2020 Dec 30;22(1) doi: 10.3390/ijms22010336. PMID: 33396957Free PMC Article
Jung CK, Kim Y, Jeon S, Jo K, Lee S, Bae JS
Hum Pathol 2018 Nov;81:9-17. Epub 2018 May 1 doi: 10.1016/j.humpath.2018.04.018. PMID: 29723601

Recent clinical studies

Etiology

Leandro-García LJ, Landa I
Endocrinology 2023 Aug 1;164(9) doi: 10.1210/endocr/bqad118. PMID: 37503738Free PMC Article
Mastronikolis S, Adamopoulou M, Papouliakos S, Manoli A, Katsinis S, Makri O, Monastirioti AE, Tsiambas E, Georgakopoulos C
J BUON 2021 Jul-Aug;26(4):1194-1197. PMID: 34564968
Robertson AG, Shih J, Yau C, Gibb EA, Oba J, Mungall KL, Hess JM, Uzunangelov V, Walter V, Danilova L, Lichtenberg TM, Kucherlapati M, Kimes PK, Tang M, Penson A, Babur O, Akbani R, Bristow CA, Hoadley KA, Iype L, Chang MT; TCGA Research Network, Cherniack AD, Benz C, Mills GB, Verhaak RGW, Griewank KG, Felau I, Zenklusen JC, Gershenwald JE, Schoenfield L, Lazar AJ, Abdel-Rahman MH, Roman-Roman S, Stern MH, Cebulla CM, Williams MD, Jager MJ, Coupland SE, Esmaeli B, Kandoth C, Woodman SE
Cancer Cell 2017 Aug 14;32(2):204-220.e15. doi: 10.1016/j.ccell.2017.07.003. PMID: 28810145Free PMC Article
Etemadmoghadam D, Azar WJ, Lei Y, Moujaber T, Garsed DW, Kennedy CJ, Fereday S, Mitchell C, Chiew YE, Hendley J, Sharma R, Harnett PR, Li J, Christie EL, Patch AM, George J, Au-Yeung G, Mir Arnau G, Holloway TP, Semple T, Pearson JV, Waddell N, Grimmond SM, Köbel M, Rizos H, Lomakin IB, Bowtell DDL, deFazio A; Australian Ovarian Cancer Study Group
Cancer Res 2017 Aug 15;77(16):4268-4278. Epub 2017 Jun 23 doi: 10.1158/0008-5472.CAN-16-2224. PMID: 28646021
Cancer Genome Atlas Research Network
Cell 2014 Oct 23;159(3):676-90. doi: 10.1016/j.cell.2014.09.050. PMID: 25417114Free PMC Article

Diagnosis

Alzahrani AS
J Clin Endocrinol Metab 2023 Oct 18;108(11):2759-2771. doi: 10.1210/clinem/dgad282. PMID: 37200449
Ibrahimpasic T, Ghossein R, Shah JP, Ganly I
Thyroid 2019 Mar;29(3):311-321. doi: 10.1089/thy.2018.0509. PMID: 30747050Free PMC Article
Krishnamoorthy GP, Davidson NR, Leach SD, Zhao Z, Lowe SW, Lee G, Landa I, Nagarajah J, Saqcena M, Singh K, Wendel HG, Dogan S, Tamarapu PP, Blenis J, Ghossein RA, Knauf JA, Rätsch G, Fagin JA
Cancer Discov 2019 Feb;9(2):264-281. Epub 2018 Oct 10 doi: 10.1158/2159-8290.CD-18-0606. PMID: 30305285Free PMC Article
Dogrusöz M, Jager MJ
Acta Ophthalmol 2018 Jun;96(4):331-347. Epub 2017 Nov 4 doi: 10.1111/aos.13580. PMID: 29105334
Scholz SL, Möller I, Reis H, Süßkind D, van de Nes JAP, Leonardelli S, Schilling B, Livingstone E, Schimming T, Paschen A, Sucker A, Murali R, Steuhl KP, Schadendorf D, Westekemper H, Griewank KG
Invest Ophthalmol Vis Sci 2017 Jul 1;58(9):3464-3470. doi: 10.1167/iovs.17-21838. PMID: 28700778

Therapy

Wong KK, Bateman NW, Ng CW, Tsang YTM, Sun CS, Celestino J, Nguyen TV, Malpica A, Hillman RT, Zhang J, Futreal PA, Rojas C, Conrads KA, Hood BL, Dalgard CL, Wilkerson MD, Phippen NT, Conrads TP, Maxwell GL, Sood AK, Gershenson DM
J Transl Med 2022 Dec 17;20(1):606. doi: 10.1186/s12967-022-03820-x. PMID: 36528667Free PMC Article
Lietman CD, McKean M
Cancer Gene Ther 2022 Dec;29(12):1809-1813. Epub 2022 Feb 18 doi: 10.1038/s41417-022-00437-6. PMID: 35181742
Eszlinger M, Khalil M, Gillmor AH, Huang H, Stewardson P, McIntyre JB, Morrissy S, Paschke R
Genes Chromosomes Cancer 2021 Aug;60(8):531-545. Epub 2021 Mar 31 doi: 10.1002/gcc.22949. PMID: 33749950
van Poppelen NM, Yavuzyigitoglu S, Smit KN, Vaarwater J, Eussen B, Brands T, Paridaens D, Kiliç E, de Klein A
Genes Chromosomes Cancer 2018 Sep;57(9):452-458. Epub 2018 Jul 30 doi: 10.1002/gcc.4. PMID: 29726589Free PMC Article
Dogrusöz M, Jager MJ
Acta Ophthalmol 2018 Jun;96(4):331-347. Epub 2017 Nov 4 doi: 10.1111/aos.13580. PMID: 29105334

Prognosis

Alzahrani AS
J Clin Endocrinol Metab 2023 Oct 18;108(11):2759-2771. doi: 10.1210/clinem/dgad282. PMID: 37200449
Ibrahimpasic T, Ghossein R, Shah JP, Ganly I
Thyroid 2019 Mar;29(3):311-321. doi: 10.1089/thy.2018.0509. PMID: 30747050Free PMC Article
Simões-Pereira J, Moura MM, Marques IJ, Rito M, Cabrera RA, Leite V, Cavaco BM
J Endocrinol Invest 2019 Mar;42(3):313-318. Epub 2018 Jul 2 doi: 10.1007/s40618-018-0919-8. PMID: 29968046
Robertson AG, Shih J, Yau C, Gibb EA, Oba J, Mungall KL, Hess JM, Uzunangelov V, Walter V, Danilova L, Lichtenberg TM, Kucherlapati M, Kimes PK, Tang M, Penson A, Babur O, Akbani R, Bristow CA, Hoadley KA, Iype L, Chang MT; TCGA Research Network, Cherniack AD, Benz C, Mills GB, Verhaak RGW, Griewank KG, Felau I, Zenklusen JC, Gershenwald JE, Schoenfield L, Lazar AJ, Abdel-Rahman MH, Roman-Roman S, Stern MH, Cebulla CM, Williams MD, Jager MJ, Coupland SE, Esmaeli B, Kandoth C, Woodman SE
Cancer Cell 2017 Aug 14;32(2):204-220.e15. doi: 10.1016/j.ccell.2017.07.003. PMID: 28810145Free PMC Article
Landa I, Ibrahimpasic T, Boucai L, Sinha R, Knauf JA, Shah RH, Dogan S, Ricarte-Filho JC, Krishnamoorthy GP, Xu B, Schultz N, Berger MF, Sander C, Taylor BS, Ghossein R, Ganly I, Fagin JA
J Clin Invest 2016 Mar 1;126(3):1052-66. Epub 2016 Feb 15 doi: 10.1172/JCI85271. PMID: 26878173Free PMC Article

Clinical prediction guides

Alzahrani AS
J Clin Endocrinol Metab 2023 Oct 18;108(11):2759-2771. doi: 10.1210/clinem/dgad282. PMID: 37200449
Smit KN, Jager MJ, de Klein A, Kiliҫ E
Prog Retin Eye Res 2020 Mar;75:100800. Epub 2019 Sep 26 doi: 10.1016/j.preteyeres.2019.100800. PMID: 31563544
Ibrahimpasic T, Ghossein R, Shah JP, Ganly I
Thyroid 2019 Mar;29(3):311-321. doi: 10.1089/thy.2018.0509. PMID: 30747050Free PMC Article
Landa I, Ibrahimpasic T, Boucai L, Sinha R, Knauf JA, Shah RH, Dogan S, Ricarte-Filho JC, Krishnamoorthy GP, Xu B, Schultz N, Berger MF, Sander C, Taylor BS, Ghossein R, Ganly I, Fagin JA
J Clin Invest 2016 Mar 1;126(3):1052-66. Epub 2016 Feb 15 doi: 10.1172/JCI85271. PMID: 26878173Free PMC Article
Cancer Genome Atlas Research Network
Cell 2014 Oct 23;159(3):676-90. doi: 10.1016/j.cell.2014.09.050. PMID: 25417114Free PMC Article

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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...