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NOTCH Family Gene Mutation

MedGen UID:
1620276
Concept ID:
C4526852
Cell or Molecular Dysfunction
Synonyms: NOTCH Gene Mutation; Notch Receptor Gene Family Mutation

Definition

A change in the nucleotide sequence of a gene that is a member of the NOTCH gene family. [from NCI]

Professional guidelines

PubMed

Kim Y, Bae JS, Lee JY, Song HK, Lee JH, Lee M, Kim C, Lee SH
Int J Mol Sci 2022 Sep 29;23(19) doi: 10.3390/ijms231911506. PMID: 36232798Free PMC Article
Min JY, Park SJ, Kang EJ, Hwang SY, Han SH
Neurogenetics 2022 Jan;23(1):45-58. Epub 2021 Nov 6 doi: 10.1007/s10048-021-00674-1. PMID: 34741685
Kohut TJ, Gilbert MA, Loomes KM
Semin Liver Dis 2021 Nov;41(4):525-537. Epub 2021 Jul 2 doi: 10.1055/s-0041-1730951. PMID: 34215014

Recent clinical studies

Etiology

Malki A, ElRuz RA, Gupta I, Allouch A, Vranic S, Al Moustafa AE
Int J Mol Sci 2020 Dec 24;22(1) doi: 10.3390/ijms22010130. PMID: 33374459Free PMC Article
Kater AP, Wu JQ, Kipps T, Eichhorst B, Hillmen P, D'Rozario J, Assouline S, Owen C, Robak T, de la Serna J, Jaeger U, Cartron G, Montillo M, Dubois J, Eldering E, Mellink C, Van Der Kevie-Kersemaekers AM, Kim SY, Chyla B, Punnoose E, Bolen CR, Assaf ZJ, Jiang Y, Wang J, Lefebure M, Boyer M, Humphrey K, Seymour JF
J Clin Oncol 2020 Dec 1;38(34):4042-4054. Epub 2020 Sep 28 doi: 10.1200/JCO.20.00948. PMID: 32986498Free PMC Article
Ferrante EA, Cudrici CD, Boehm M
Curr Opin Hematol 2019 May;26(3):193-198. doi: 10.1097/MOH.0000000000000497. PMID: 30855338Free PMC Article
Liu Y, Easton J, Shao Y, Maciaszek J, Wang Z, Wilkinson MR, McCastlain K, Edmonson M, Pounds SB, Shi L, Zhou X, Ma X, Sioson E, Li Y, Rusch M, Gupta P, Pei D, Cheng C, Smith MA, Auvil JG, Gerhard DS, Relling MV, Winick NJ, Carroll AJ, Heerema NA, Raetz E, Devidas M, Willman CL, Harvey RC, Carroll WL, Dunsmore KP, Winter SS, Wood BL, Sorrentino BP, Downing JR, Loh ML, Hunger SP, Zhang J, Mullighan CG
Nat Genet 2017 Aug;49(8):1211-1218. Epub 2017 Jul 3 doi: 10.1038/ng.3909. PMID: 28671688Free PMC Article
Song Y, Li L, Ou Y, Gao Z, Li E, Li X, Zhang W, Wang J, Xu L, Zhou Y, Ma X, Liu L, Zhao Z, Huang X, Fan J, Dong L, Chen G, Ma L, Yang J, Chen L, He M, Li M, Zhuang X, Huang K, Qiu K, Yin G, Guo G, Feng Q, Chen P, Wu Z, Wu J, Ma L, Zhao J, Luo L, Fu M, Xu B, Chen B, Li Y, Tong T, Wang M, Liu Z, Lin D, Zhang X, Yang H, Wang J, Zhan Q
Nature 2014 May 1;509(7498):91-5. Epub 2014 Mar 16 doi: 10.1038/nature13176. PMID: 24670651

Diagnosis

Bonfiglio F, Bruscaggin A, Guidetti F, Terzi di Bergamo L, Faderl M, Spina V, Condoluci A, Bonomini L, Forestieri G, Koch R, Piffaretti D, Pini K, Pirosa MC, Cittone MG, Arribas A, Lucioni M, Ghilardi G, Wu W, Arcaini L, Baptista MJ, Bastidas G, Bea S, Boldorini R, Broccoli A, Buehler MM, Canzonieri V, Cascione L, Ceriani L, Cogliatti S, Corradini P, Derenzini E, Devizzi L, Dietrich S, Elia AR, Facchetti F, Gaidano G, Garcia JF, Gerber B, Ghia P, Gomes da Silva M, Gritti G, Guidetti A, Hitz F, Inghirami G, Ladetto M, Lopez-Guillermo A, Lucchini E, Maiorana A, Marasca R, Matutes E, Meignin V, Merli M, Moccia A, Mollejo M, Montalban C, Novak U, Oscier DG, Passamonti F, Piazza F, Pizzolitto S, Rambaldi A, Sabattini E, Salles G, Santambrogio E, Scarfò L, Stathis A, Stüssi G, Geyer JT, Tapia G, Tarella C, Thieblemont C, Tousseyn T, Tucci A, Vanini G, Visco C, Vitolo U, Walewska R, Zaja F, Zenz T, Zinzani PL, Khiabanian H, Calcinotto A, Bertoni F, Bhagat G, Campo E, De Leval L, Dirnhofer S, Pileri SA, Piris MA, Traverse-Glehen A, Tzankov A, Paulli M, Ponzoni M, Mazzucchelli L, Cavalli F, Zucca E, Rossi D
Blood 2022 Feb 3;139(5):732-747. doi: 10.1182/blood.2021012386. PMID: 34653238
Kohut TJ, Gilbert MA, Loomes KM
Semin Liver Dis 2021 Nov;41(4):525-537. Epub 2021 Jul 2 doi: 10.1055/s-0041-1730951. PMID: 34215014
Ferrante EA, Cudrici CD, Boehm M
Curr Opin Hematol 2019 May;26(3):193-198. doi: 10.1097/MOH.0000000000000497. PMID: 30855338Free PMC Article
Mitchell E, Gilbert M, Loomes KM
Clin Liver Dis 2018 Nov;22(4):625-641. Epub 2018 Aug 22 doi: 10.1016/j.cld.2018.06.001. PMID: 30266153
Katoh M, Nakagama H
Med Res Rev 2014 Mar;34(2):280-300. Epub 2013 May 21 doi: 10.1002/med.21288. PMID: 23696246

Therapy

Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q
Signal Transduct Target Ther 2022 Mar 24;7(1):95. doi: 10.1038/s41392-022-00934-y. PMID: 35332121Free PMC Article
Kater AP, Wu JQ, Kipps T, Eichhorst B, Hillmen P, D'Rozario J, Assouline S, Owen C, Robak T, de la Serna J, Jaeger U, Cartron G, Montillo M, Dubois J, Eldering E, Mellink C, Van Der Kevie-Kersemaekers AM, Kim SY, Chyla B, Punnoose E, Bolen CR, Assaf ZJ, Jiang Y, Wang J, Lefebure M, Boyer M, Humphrey K, Seymour JF
J Clin Oncol 2020 Dec 1;38(34):4042-4054. Epub 2020 Sep 28 doi: 10.1200/JCO.20.00948. PMID: 32986498Free PMC Article
Song Y, Li L, Ou Y, Gao Z, Li E, Li X, Zhang W, Wang J, Xu L, Zhou Y, Ma X, Liu L, Zhao Z, Huang X, Fan J, Dong L, Chen G, Ma L, Yang J, Chen L, He M, Li M, Zhuang X, Huang K, Qiu K, Yin G, Guo G, Feng Q, Chen P, Wu Z, Wu J, Ma L, Zhao J, Luo L, Fu M, Xu B, Chen B, Li Y, Tong T, Wang M, Liu Z, Lin D, Zhang X, Yang H, Wang J, Zhan Q
Nature 2014 May 1;509(7498):91-5. Epub 2014 Mar 16 doi: 10.1038/nature13176. PMID: 24670651
Katoh M, Nakagama H
Med Res Rev 2014 Mar;34(2):280-300. Epub 2013 May 21 doi: 10.1002/med.21288. PMID: 23696246
Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG
Lancet Neurol 2009 Jul;8(7):643-53. doi: 10.1016/S1474-4422(09)70127-9. PMID: 19539236

Prognosis

Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q
Signal Transduct Target Ther 2022 Mar 24;7(1):95. doi: 10.1038/s41392-022-00934-y. PMID: 35332121Free PMC Article
Bonfiglio F, Bruscaggin A, Guidetti F, Terzi di Bergamo L, Faderl M, Spina V, Condoluci A, Bonomini L, Forestieri G, Koch R, Piffaretti D, Pini K, Pirosa MC, Cittone MG, Arribas A, Lucioni M, Ghilardi G, Wu W, Arcaini L, Baptista MJ, Bastidas G, Bea S, Boldorini R, Broccoli A, Buehler MM, Canzonieri V, Cascione L, Ceriani L, Cogliatti S, Corradini P, Derenzini E, Devizzi L, Dietrich S, Elia AR, Facchetti F, Gaidano G, Garcia JF, Gerber B, Ghia P, Gomes da Silva M, Gritti G, Guidetti A, Hitz F, Inghirami G, Ladetto M, Lopez-Guillermo A, Lucchini E, Maiorana A, Marasca R, Matutes E, Meignin V, Merli M, Moccia A, Mollejo M, Montalban C, Novak U, Oscier DG, Passamonti F, Piazza F, Pizzolitto S, Rambaldi A, Sabattini E, Salles G, Santambrogio E, Scarfò L, Stathis A, Stüssi G, Geyer JT, Tapia G, Tarella C, Thieblemont C, Tousseyn T, Tucci A, Vanini G, Visco C, Vitolo U, Walewska R, Zaja F, Zenz T, Zinzani PL, Khiabanian H, Calcinotto A, Bertoni F, Bhagat G, Campo E, De Leval L, Dirnhofer S, Pileri SA, Piris MA, Traverse-Glehen A, Tzankov A, Paulli M, Ponzoni M, Mazzucchelli L, Cavalli F, Zucca E, Rossi D
Blood 2022 Feb 3;139(5):732-747. doi: 10.1182/blood.2021012386. PMID: 34653238
Jackstadt R, van Hooff SR, Leach JD, Cortes-Lavaud X, Lohuis JO, Ridgway RA, Wouters VM, Roper J, Kendall TJ, Roxburgh CS, Horgan PG, Nixon C, Nourse C, Gunzer M, Clark W, Hedley A, Yilmaz OH, Rashid M, Bailey P, Biankin AV, Campbell AD, Adams DJ, Barry ST, Steele CW, Medema JP, Sansom OJ
Cancer Cell 2019 Sep 16;36(3):319-336.e7. doi: 10.1016/j.ccell.2019.08.003. PMID: 31526760Free PMC Article
Yeh CH, Bellon M, Nicot C
Mol Cancer 2018 Aug 7;17(1):115. doi: 10.1186/s12943-018-0857-2. PMID: 30086763Free PMC Article
Bailey P, Chang DK, Nones K, Johns AL, Patch AM, Gingras MC, Miller DK, Christ AN, Bruxner TJ, Quinn MC, Nourse C, Murtaugh LC, Harliwong I, Idrisoglu S, Manning S, Nourbakhsh E, Wani S, Fink L, Holmes O, Chin V, Anderson MJ, Kazakoff S, Leonard C, Newell F, Waddell N, Wood S, Xu Q, Wilson PJ, Cloonan N, Kassahn KS, Taylor D, Quek K, Robertson A, Pantano L, Mincarelli L, Sanchez LN, Evers L, Wu J, Pinese M, Cowley MJ, Jones MD, Colvin EK, Nagrial AM, Humphrey ES, Chantrill LA, Mawson A, Humphris J, Chou A, Pajic M, Scarlett CJ, Pinho AV, Giry-Laterriere M, Rooman I, Samra JS, Kench JG, Lovell JA, Merrett ND, Toon CW, Epari K, Nguyen NQ, Barbour A, Zeps N, Moran-Jones K, Jamieson NB, Graham JS, Duthie F, Oien K, Hair J, Grützmann R, Maitra A, Iacobuzio-Donahue CA, Wolfgang CL, Morgan RA, Lawlor RT, Corbo V, Bassi C, Rusev B, Capelli P, Salvia R, Tortora G, Mukhopadhyay D, Petersen GM; Australian Pancreatic Cancer Genome Initiative, Munzy DM, Fisher WE, Karim SA, Eshleman JR, Hruban RH, Pilarsky C, Morton JP, Sansom OJ, Scarpa A, Musgrove EA, Bailey UM, Hofmann O, Sutherland RL, Wheeler DA, Gill AJ, Gibbs RA, Pearson JV, Waddell N, Biankin AV, Grimmond SM
Nature 2016 Mar 3;531(7592):47-52. Epub 2016 Feb 24 doi: 10.1038/nature16965. PMID: 26909576

Clinical prediction guides

Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q
Signal Transduct Target Ther 2022 Mar 24;7(1):95. doi: 10.1038/s41392-022-00934-y. PMID: 35332121Free PMC Article
Huang YH, Cai K, Xu PP, Wang L, Huang CX, Fang Y, Cheng S, Sun XJ, Liu F, Huang JY, Ji MM, Zhao WL
Signal Transduct Target Ther 2021 Jan 11;6(1):10. doi: 10.1038/s41392-020-00437-8. PMID: 33431788Free PMC Article
Kater AP, Wu JQ, Kipps T, Eichhorst B, Hillmen P, D'Rozario J, Assouline S, Owen C, Robak T, de la Serna J, Jaeger U, Cartron G, Montillo M, Dubois J, Eldering E, Mellink C, Van Der Kevie-Kersemaekers AM, Kim SY, Chyla B, Punnoose E, Bolen CR, Assaf ZJ, Jiang Y, Wang J, Lefebure M, Boyer M, Humphrey K, Seymour JF
J Clin Oncol 2020 Dec 1;38(34):4042-4054. Epub 2020 Sep 28 doi: 10.1200/JCO.20.00948. PMID: 32986498Free PMC Article
Ferrante EA, Cudrici CD, Boehm M
Curr Opin Hematol 2019 May;26(3):193-198. doi: 10.1097/MOH.0000000000000497. PMID: 30855338Free PMC Article
George J, Lim JS, Jang SJ, Cun Y, Ozretić L, Kong G, Leenders F, Lu X, Fernández-Cuesta L, Bosco G, Müller C, Dahmen I, Jahchan NS, Park KS, Yang D, Karnezis AN, Vaka D, Torres A, Wang MS, Korbel JO, Menon R, Chun SM, Kim D, Wilkerson M, Hayes N, Engelmann D, Pützer B, Bos M, Michels S, Vlasic I, Seidel D, Pinther B, Schaub P, Becker C, Altmüller J, Yokota J, Kohno T, Iwakawa R, Tsuta K, Noguchi M, Muley T, Hoffmann H, Schnabel PA, Petersen I, Chen Y, Soltermann A, Tischler V, Choi CM, Kim YH, Massion PP, Zou Y, Jovanovic D, Kontic M, Wright GM, Russell PA, Solomon B, Koch I, Lindner M, Muscarella LA, la Torre A, Field JK, Jakopovic M, Knezevic J, Castaños-Vélez E, Roz L, Pastorino U, Brustugun OT, Lund-Iversen M, Thunnissen E, Köhler J, Schuler M, Botling J, Sandelin M, Sanchez-Cespedes M, Salvesen HB, Achter V, Lang U, Bogus M, Schneider PM, Zander T, Ansén S, Hallek M, Wolf J, Vingron M, Yatabe Y, Travis WD, Nürnberg P, Reinhardt C, Perner S, Heukamp L, Büttner R, Haas SA, Brambilla E, Peifer M, Sage J, Thomas RK
Nature 2015 Aug 6;524(7563):47-53. Epub 2015 Jul 13 doi: 10.1038/nature14664. PMID: 26168399Free PMC Article

Recent systematic reviews

Huang X, Leo P, Jones L, Duijf PHG, Hartel G, Kenny L, Vasani S, Punyadeera C
Mutat Res Rev Mutat Res 2024 Jan-Jun;793:108477. Epub 2023 Nov 17 doi: 10.1016/j.mrrev.2023.108477. PMID: 37977279
Guo S, Quan S, Zou S
Reprod Sci 2021 Oct;28(10):2770-2778. Epub 2021 May 18 doi: 10.1007/s43032-021-00610-6. PMID: 34008156
Wang Z, Yan Y, Wang B
Dermatology 2021;237(5):698-704. Epub 2020 Dec 17 doi: 10.1159/000512455. PMID: 33333507Free PMC Article
Cortés-Martín J, Díaz-Rodríguez L, Piqueras-Sola B, Rodríguez-Blanque R, Bermejo-Fernández A, Sánchez-García JC
Int J Environ Res Public Health 2020 Aug 25;17(17) doi: 10.3390/ijerph17176174. PMID: 32854429Free PMC Article
Frew JW, Vekic DA, Woods J, Cains GD
Br J Dermatol 2017 Oct;177(4):987-998. Epub 2017 Sep 20 doi: 10.1111/bjd.15441. PMID: 28278367

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