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MAP2K1 Gene Amplification

MedGen UID:
1667068
•Concept ID:
C4727123
•
Cell or Molecular Dysfunction
Synonyms: MAPKK1 Gene Amplification; MEK1 Gene Amplification; Mitogen-Activated Protein Kinase Kinase 1 Gene Amplification; MKK1 Gene Amplification; PRKMK1 Gene Amplification

Definition

A molecular genetic abnormality indicating the presence of multiple copies of the MAP2K1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMAP2K1 Gene Amplification

Professional guidelines

PubMed

Comprehensive Genomic Profiling Facilitates Implementation of the National Comprehensive Cancer Network Guidelines for Lung Cancer Biomarker Testing and Identifies Patients Who May Benefit From Enrollment in Mechanism-Driven Clinical Trials.
Suh JH, Johnson A, Albacker L, Wang K, Chmielecki J, Frampton G, Gay L, Elvin JA, Vergilio JA, Ali S, Miller VA, Stephens PJ, Ross JS
Oncologist 2016 Jun;21(6):684-91. Epub 2016 May 5 doi: 10.1634/theoncologist.2016-0030. PMID: 27151654Free PMC Article

Recent clinical studies

Etiology

Mutational analysis of microsatellite-stable gastrointestinal cancer with high tumour mutational burden: a retrospective cohort study.
Wang J, Xiu J, Farrell A, Baca Y, Arai H, Battaglin F, Kawanishi N, Soni S, Zhang W, Millstein J, Shields AF, Grothey A, Weinberg BA, Marshall JL, Lou E, Khushman M, Sohal DPS, Hall MJ, Liu T, Oberley M, Spetzler D, Korn WM, Shen L, Lenz HJ
Lancet Oncol 2023 Feb;24(2):151-161. Epub 2023 Jan 18 doi: 10.1016/S1470-2045(22)00783-5. PMID: 36681091Free PMC Article
Negative Ultraselection of Patients With RAS/BRAF Wild-Type, Microsatellite-Stable Metastatic Colorectal Cancer Receiving Anti-EGFR-Based Therapy.
Randon G, Maddalena G, Germani MM, Pircher CC, Manca P, Bergamo F, Giordano M, Sposetti C, Montagna A, Vetere G, Zambelli L, Rasola C, Boccaccino A, Pagani F, Ambrosini M, Massafra M, Fontanini G, Milione M, Fassan M, Cremolini C, Lonardi S, Pietrantonio F
JCO Precis Oncol 2022 Apr;6:e2200037. doi: 10.1200/PO.22.00037. PMID: 35544729Free PMC Article
Identification of Targetable Kinase Alterations in Patients with Colorectal Carcinoma That are Preferentially Associated with Wild-Type RAS/RAF.
Hechtman JF, Zehir A, Yaeger R, Wang L, Middha S, Zheng T, Hyman DM, Solit D, Arcila ME, Borsu L, Shia J, Vakiani E, Saltz L, Ladanyi M
Mol Cancer Res 2016 Mar;14(3):296-301. Epub 2015 Dec 11 doi: 10.1158/1541-7786.MCR-15-0392-T. PMID: 26660078Free PMC Article
Comprehensive Genomic Profiling of Carcinoma of Unknown Primary Site: New Routes to Targeted Therapies.
Ross JS, Wang K, Gay L, Otto GA, White E, Iwanik K, Palmer G, Yelensky R, Lipson DM, Chmielecki J, Erlich RL, Rankin AN, Ali SM, Elvin JA, Morosini D, Miller VA, Stephens PJ
JAMA Oncol 2015 Apr;1(1):40-49. doi: 10.1001/jamaoncol.2014.216. PMID: 26182302
Whole genome gene copy number profiling of gastric cancer identifies PAK1 and KRAS gene amplification as therapy targets.
Qian Z, Zhu G, Tang L, Wang M, Zhang L, Fu J, Huang C, Fan S, Sun Y, Lv J, Dong H, Gao B, Su X, Yu D, Zang J, Zhang X, Ji J, Ji Q
Genes Chromosomes Cancer 2014 Nov;53(11):883-94. Epub 2014 Jun 17 doi: 10.1002/gcc.22196. PMID: 24935174

Diagnosis

FGFR2 loss sensitizes MYCN-amplified neuroblastoma CHP134 cells to CHK1 inhibitor-induced apoptosis.
Ando K, Ohira M, Takada I, Cázares-Ordoñez V, Suenaga Y, Nagase H, Kobayashi S, Koshinaga T, Kamijo T, Makishima M, Wada S
Cancer Sci 2022 Feb;113(2):587-596. Epub 2021 Nov 30 doi: 10.1111/cas.15205. PMID: 34807483Free PMC Article
Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups.
Egan C, Nicolae A, Lack J, Chung HJ, Skarshaug S, Pham TA, Navarro W, Abdullaev Z, Aguilera NS, Xi L, Pack S, Pittaluga S, Jaffe ES, Raffeld M
Haematologica 2020 Apr;105(4):951-960. Epub 2019 Aug 22 doi: 10.3324/haematol.2019.230375. PMID: 31439678Free PMC Article
Molecular Landscape of Acquired Resistance to Targeted Therapy Combinations in BRAF-Mutant Colorectal Cancer.
Oddo D, Sennott EM, Barault L, Valtorta E, Arena S, Cassingena A, Filiciotto G, Marzolla G, Elez E, van Geel RM, Bartolini A, Crisafulli G, Boscaro V, Godfrey JT, Buscarino M, Cancelliere C, Linnebacher M, Corti G, Truini M, Siravegna G, Grasselli J, Gallicchio M, Bernards R, Schellens JH, Tabernero J, Engelman JA, Sartore-Bianchi A, Bardelli A, Siena S, Corcoran RB, Di Nicolantonio F
Cancer Res 2016 Aug 1;76(15):4504-15. Epub 2016 Jun 16 doi: 10.1158/0008-5472.CAN-16-0396. PMID: 27312529Free PMC Article
Comprehensive Genomic Profiling of Carcinoma of Unknown Primary Site: New Routes to Targeted Therapies.
Ross JS, Wang K, Gay L, Otto GA, White E, Iwanik K, Palmer G, Yelensky R, Lipson DM, Chmielecki J, Erlich RL, Rankin AN, Ali SM, Elvin JA, Morosini D, Miller VA, Stephens PJ
JAMA Oncol 2015 Apr;1(1):40-49. doi: 10.1001/jamaoncol.2014.216. PMID: 26182302
Whole genome gene copy number profiling of gastric cancer identifies PAK1 and KRAS gene amplification as therapy targets.
Qian Z, Zhu G, Tang L, Wang M, Zhang L, Fu J, Huang C, Fan S, Sun Y, Lv J, Dong H, Gao B, Su X, Yu D, Zang J, Zhang X, Ji J, Ji Q
Genes Chromosomes Cancer 2014 Nov;53(11):883-94. Epub 2014 Jun 17 doi: 10.1002/gcc.22196. PMID: 24935174

Therapy

Negative hyperselection of elderly patients with RAS and BRAF wild-type metastatic colorectal cancer receiving initial panitumumab plus FOLFOX or 5-FU/LV.
Pietrantonio F, Bergamo F, Rossini D, Ghelardi F, De Grandis MC, Germani MM, Barsotti G, Formica V, Frassineti GL, Boscolo G, Cinieri S, Di Donato S, Antonuzzo L, Antoniotti C, Ambrosini M, Piva VM, Nichetti F, Fassan M, Cremolini C, Lonardi S
Eur J Cancer 2023 Dec;195:113396. Epub 2023 Oct 20 doi: 10.1016/j.ejca.2023.113396. PMID: 37924647
Mutational analysis of microsatellite-stable gastrointestinal cancer with high tumour mutational burden: a retrospective cohort study.
Wang J, Xiu J, Farrell A, Baca Y, Arai H, Battaglin F, Kawanishi N, Soni S, Zhang W, Millstein J, Shields AF, Grothey A, Weinberg BA, Marshall JL, Lou E, Khushman M, Sohal DPS, Hall MJ, Liu T, Oberley M, Spetzler D, Korn WM, Shen L, Lenz HJ
Lancet Oncol 2023 Feb;24(2):151-161. Epub 2023 Jan 18 doi: 10.1016/S1470-2045(22)00783-5. PMID: 36681091Free PMC Article
Anticancer drug resistance: An update and perspective.
Nussinov R, Tsai CJ, Jang H
Drug Resist Updat 2021 Dec;59:100796. Epub 2021 Dec 16 doi: 10.1016/j.drup.2021.100796. PMID: 34953682Free PMC Article
MEK1/2 inhibitor withdrawal reverses acquired resistance driven by BRAF(V600E) amplification whereas KRAS(G13D) amplification promotes EMT-chemoresistance.
Sale MJ, Balmanno K, Saxena J, Ozono E, Wojdyla K, McIntyre RE, Gilley R, Woroniuk A, Howarth KD, Hughes G, Dry JR, Arends MJ, Caro P, Oxley D, Ashton S, Adams DJ, Saez-Rodriguez J, Smith PD, Cook SJ
Nat Commun 2019 May 2;10(1):2030. doi: 10.1038/s41467-019-09438-w. PMID: 31048689Free PMC Article
Personalized Preclinical Trials in BRAF Inhibitor-Resistant Patient-Derived Xenograft Models Identify Second-Line Combination Therapies.
Krepler C, Xiao M, Sproesser K, Brafford PA, Shannan B, Beqiri M, Liu Q, Xu W, Garman B, Nathanson KL, Xu X, Karakousis GC, Mills GB, Lu Y, Ahmed TA, Poulikakos PI, Caponigro G, Boehm M, Peters M, Schuchter LM, Weeraratna AT, Herlyn M
Clin Cancer Res 2016 Apr 1;22(7):1592-602. Epub 2015 Dec 16 doi: 10.1158/1078-0432.CCR-15-1762. PMID: 26673799Free PMC Article

Prognosis

Negative hyperselection of elderly patients with RAS and BRAF wild-type metastatic colorectal cancer receiving initial panitumumab plus FOLFOX or 5-FU/LV.
Pietrantonio F, Bergamo F, Rossini D, Ghelardi F, De Grandis MC, Germani MM, Barsotti G, Formica V, Frassineti GL, Boscolo G, Cinieri S, Di Donato S, Antonuzzo L, Antoniotti C, Ambrosini M, Piva VM, Nichetti F, Fassan M, Cremolini C, Lonardi S
Eur J Cancer 2023 Dec;195:113396. Epub 2023 Oct 20 doi: 10.1016/j.ejca.2023.113396. PMID: 37924647
Mutational analysis of microsatellite-stable gastrointestinal cancer with high tumour mutational burden: a retrospective cohort study.
Wang J, Xiu J, Farrell A, Baca Y, Arai H, Battaglin F, Kawanishi N, Soni S, Zhang W, Millstein J, Shields AF, Grothey A, Weinberg BA, Marshall JL, Lou E, Khushman M, Sohal DPS, Hall MJ, Liu T, Oberley M, Spetzler D, Korn WM, Shen L, Lenz HJ
Lancet Oncol 2023 Feb;24(2):151-161. Epub 2023 Jan 18 doi: 10.1016/S1470-2045(22)00783-5. PMID: 36681091Free PMC Article
Driver and targetable alterations in Chinese patients with small bowel carcinoma.
Li J, Li X, Dong N, Yan S, Jing C, Ma T, Li W, Zhang C, Cai Y, Deng W
J Cancer Res Clin Oncol 2023 Aug;149(9):6139-6150. Epub 2023 Jan 21 doi: 10.1007/s00432-022-04521-0. PMID: 36680582
Anticancer drug resistance: An update and perspective.
Nussinov R, Tsai CJ, Jang H
Drug Resist Updat 2021 Dec;59:100796. Epub 2021 Dec 16 doi: 10.1016/j.drup.2021.100796. PMID: 34953682Free PMC Article
Genomic characterization of primary central nervous system lymphoma.
Fukumura K, Kawazu M, Kojima S, Ueno T, Sai E, Soda M, Ueda H, Yasuda T, Yamaguchi H, Lee J, Shishido-Hara Y, Sasaki A, Shirahata M, Mishima K, Ichimura K, Mukasa A, Narita Y, Saito N, Aburatani H, Nishikawa R, Nagane M, Mano H
Acta Neuropathol 2016 Jun;131(6):865-75. Epub 2016 Jan 12 doi: 10.1007/s00401-016-1536-2. PMID: 26757737

Clinical prediction guides

Negative hyperselection of elderly patients with RAS and BRAF wild-type metastatic colorectal cancer receiving initial panitumumab plus FOLFOX or 5-FU/LV.
Pietrantonio F, Bergamo F, Rossini D, Ghelardi F, De Grandis MC, Germani MM, Barsotti G, Formica V, Frassineti GL, Boscolo G, Cinieri S, Di Donato S, Antonuzzo L, Antoniotti C, Ambrosini M, Piva VM, Nichetti F, Fassan M, Cremolini C, Lonardi S
Eur J Cancer 2023 Dec;195:113396. Epub 2023 Oct 20 doi: 10.1016/j.ejca.2023.113396. PMID: 37924647
Mutational analysis of microsatellite-stable gastrointestinal cancer with high tumour mutational burden: a retrospective cohort study.
Wang J, Xiu J, Farrell A, Baca Y, Arai H, Battaglin F, Kawanishi N, Soni S, Zhang W, Millstein J, Shields AF, Grothey A, Weinberg BA, Marshall JL, Lou E, Khushman M, Sohal DPS, Hall MJ, Liu T, Oberley M, Spetzler D, Korn WM, Shen L, Lenz HJ
Lancet Oncol 2023 Feb;24(2):151-161. Epub 2023 Jan 18 doi: 10.1016/S1470-2045(22)00783-5. PMID: 36681091Free PMC Article
Anticancer drug resistance: An update and perspective.
Nussinov R, Tsai CJ, Jang H
Drug Resist Updat 2021 Dec;59:100796. Epub 2021 Dec 16 doi: 10.1016/j.drup.2021.100796. PMID: 34953682Free PMC Article
Genomic characterization of primary central nervous system lymphoma.
Fukumura K, Kawazu M, Kojima S, Ueno T, Sai E, Soda M, Ueda H, Yasuda T, Yamaguchi H, Lee J, Shishido-Hara Y, Sasaki A, Shirahata M, Mishima K, Ichimura K, Mukasa A, Narita Y, Saito N, Aburatani H, Nishikawa R, Nagane M, Mano H
Acta Neuropathol 2016 Jun;131(6):865-75. Epub 2016 Jan 12 doi: 10.1007/s00401-016-1536-2. PMID: 26757737
Identification of Targetable Kinase Alterations in Patients with Colorectal Carcinoma That are Preferentially Associated with Wild-Type RAS/RAF.
Hechtman JF, Zehir A, Yaeger R, Wang L, Middha S, Zheng T, Hyman DM, Solit D, Arcila ME, Borsu L, Shia J, Vakiani E, Saltz L, Ladanyi M
Mol Cancer Res 2016 Mar;14(3):296-301. Epub 2015 Dec 11 doi: 10.1158/1541-7786.MCR-15-0392-T. PMID: 26660078Free PMC Article

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