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Core Binding Factor Complex Mutation

MedGen UID:
1385162
Concept ID:
C4329691
Cell or Molecular Dysfunction
Synonyms: CBF Mutation; Core Binding Factor Mutation

Definition

Mutations in the genes that encode proteins found in the core binding factor (CBF) complex. These genes may be involved in chromosomal rearrangements that are associated with acute myeloid leukemia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCore Binding Factor Complex Mutation

Professional guidelines

PubMed

Park S, Kim TY, Cho BS, Kwag D, Lee JM, Kim M, Kim Y, Koo J, Raman A, Kim TK, Kim HJ
Haematologica 2024 Apr 1;109(4):1095-1106. doi: 10.3324/haematol.2023.283606. PMID: 37706344Free PMC Article
Vecchione L, Gambino V, Raaijmakers J, Schlicker A, Fumagalli A, Russo M, Villanueva A, Beerling E, Bartolini A, Mollevi DG, El-Murr N, Chiron M, Calvet L, Nicolazzi C, Combeau C, Henry C, Simon IM, Tian S, in 't Veld S, D'ario G, Mainardi S, Beijersbergen RL, Lieftink C, Linn S, Rumpf-Kienzl C, Delorenzi M, Wessels L, Salazar R, Di Nicolantonio F, Bardelli A, van Rheenen J, Medema RH, Tejpar S, Bernards R
Cell 2016 Apr 7;165(2):317-30. doi: 10.1016/j.cell.2016.02.059. PMID: 27058664
Suda N, Hattori M, Kosaki K, Banshodani A, Kozai K, Tanimoto K, Moriyama K
Orthod Craniofac Res 2010 Nov;13(4):197-202. doi: 10.1111/j.1601-6343.2010.01495.x. PMID: 21040462

Recent clinical studies

Etiology

Valencia AM, Sankar A, van der Sluijs PJ, Satterstrom FK, Fu J, Talkowski ME, Vergano SAS, Santen GWE, Kadoch C
Nat Genet 2023 Aug;55(8):1400-1412. Epub 2023 Jul 27 doi: 10.1038/s41588-023-01451-6. PMID: 37500730Free PMC Article
Davis K, Sheikh T, Aggarwal N
Semin Diagn Pathol 2023 May;40(3):202-215. Epub 2023 Apr 9 doi: 10.1053/j.semdp.2023.04.003. PMID: 37120350
Hendrikse LD, Haldipur P, Saulnier O, Millman J, Sjoboen AH, Erickson AW, Ong W, Gordon V, Coudière-Morrison L, Mercier AL, Shokouhian M, Suárez RA, Ly M, Borlase S, Scott DS, Vladoiu MC, Farooq H, Sirbu O, Nakashima T, Nambu S, Funakoshi Y, Bahcheli A, Diaz-Mejia JJ, Golser J, Bach K, Phuong-Bao T, Skowron P, Wang EY, Kumar SA, Balin P, Visvanathan A, Lee JJY, Ayoub R, Chen X, Chen X, Mungall KL, Luu B, Bérubé P, Wang YC, Pfister SM, Kim SK, Delattre O, Bourdeaut F, Doz F, Masliah-Planchon J, Grajkowska WA, Loukides J, Dirks P, Fèvre-Montange M, Jouvet A, French PJ, Kros JM, Zitterbart K, Bailey SD, Eberhart CG, Rao AAN, Giannini C, Olson JM, Garami M, Hauser P, Phillips JJ, Ra YS, de Torres C, Mora J, Li KKW, Ng HK, Poon WS, Pollack IF, López-Aguilar E, Gillespie GY, Van Meter TE, Shofuda T, Vibhakar R, Thompson RC, Cooper MK, Rubin JB, Kumabe T, Jung S, Lach B, Iolascon A, Ferrucci V, de Antonellis P, Zollo M, Cinalli G, Robinson S, Stearns DS, Van Meir EG, Porrati P, Finocchiaro G, Massimino M, Carlotti CG, Faria CC, Roussel MF, Boop F, Chan JA, Aldinger KA, Razavi F, Silvestri E, McLendon RE, Thompson EM, Ansari M, Garre ML, Chico F, Eguía P, Pérezpeña M, Morrissy AS, Cavalli FMG, Wu X, Daniels C, Rich JN, Jones SJM, Moore RA, Marra MA, Huang X, Reimand J, Sorensen PH, Wechsler-Reya RJ, Weiss WA, Pugh TJ, Garzia L, Kleinman CL, Stein LD, Jabado N, Malkin D, Ayrault O, Golden JA, Ellison DW, Doble B, Ramaswamy V, Werbowetski-Ogilvie TE, Suzuki H, Millen KJ, Taylor MD
Nature 2022 Sep;609(7929):1021-1028. Epub 2022 Sep 21 doi: 10.1038/s41586-022-05215-w. PMID: 36131014Free PMC Article
Faber ZJ, Chen X, Gedman AL, Boggs K, Cheng J, Ma J, Radtke I, Chao JR, Walsh MP, Song G, Andersson AK, Dang J, Dong L, Liu Y, Huether R, Cai Z, Mulder H, Wu G, Edmonson M, Rusch M, Qu C, Li Y, Vadodaria B, Wang J, Hedlund E, Cao X, Yergeau D, Nakitandwe J, Pounds SB, Shurtleff S, Fulton RS, Fulton LL, Easton J, Parganas E, Pui CH, Rubnitz JE, Ding L, Mardis ER, Wilson RK, Gruber TA, Mullighan CG, Schlenk RF, Paschka P, Döhner K, Döhner H, Bullinger L, Zhang J, Klco JM, Downing JR
Nat Genet 2016 Dec;48(12):1551-1556. Epub 2016 Oct 31 doi: 10.1038/ng.3709. PMID: 27798625Free PMC Article
Martinez-Zapien D, Ruiz FX, Poirson J, Mitschler A, Ramirez J, Forster A, Cousido-Siah A, Masson M, Vande Pol S, Podjarny A, Travé G, Zanier K
Nature 2016 Jan 28;529(7587):541-5. Epub 2016 Jan 20 doi: 10.1038/nature16481. PMID: 26789255Free PMC Article

Diagnosis

Davis K, Sheikh T, Aggarwal N
Semin Diagn Pathol 2023 May;40(3):202-215. Epub 2023 Apr 9 doi: 10.1053/j.semdp.2023.04.003. PMID: 37120350
Hennawi M, Pakasticali N, Tashkandi H, Hussaini M
Int J Mol Sci 2022 Sep 24;23(19) doi: 10.3390/ijms231911259. PMID: 36232559Free PMC Article
Wen S, Wei Y, Zen C, Xiong W, Niu Y, Zhao Y
Mol Cancer 2020 Dec 12;19(1):171. doi: 10.1186/s12943-020-01293-4. PMID: 33308223Free PMC Article
Tyner JW, Tognon CE, Bottomly D, Wilmot B, Kurtz SE, Savage SL, Long N, Schultz AR, Traer E, Abel M, Agarwal A, Blucher A, Borate U, Bryant J, Burke R, Carlos A, Carpenter R, Carroll J, Chang BH, Coblentz C, d'Almeida A, Cook R, Danilov A, Dao KT, Degnin M, Devine D, Dibb J, Edwards DK 5th, Eide CA, English I, Glover J, Henson R, Ho H, Jemal A, Johnson K, Johnson R, Junio B, Kaempf A, Leonard J, Lin C, Liu SQ, Lo P, Loriaux MM, Luty S, Macey T, MacManiman J, Martinez J, Mori M, Nelson D, Nichols C, Peters J, Ramsdill J, Rofelty A, Schuff R, Searles R, Segerdell E, Smith RL, Spurgeon SE, Sweeney T, Thapa A, Visser C, Wagner J, Watanabe-Smith K, Werth K, Wolf J, White L, Yates A, Zhang H, Cogle CR, Collins RH, Connolly DC, Deininger MW, Drusbosky L, Hourigan CS, Jordan CT, Kropf P, Lin TL, Martinez ME, Medeiros BC, Pallapati RR, Pollyea DA, Swords RT, Watts JM, Weir SJ, Wiest DL, Winters RM, McWeeney SK, Druker BJ
Nature 2018 Oct;562(7728):526-531. Epub 2018 Oct 17 doi: 10.1038/s41586-018-0623-z. PMID: 30333627Free PMC Article
Levin AM, Bates DL, Ring AM, Krieg C, Lin JT, Su L, Moraga I, Raeber ME, Bowman GR, Novick P, Pande VS, Fathman CG, Boyman O, Garcia KC
Nature 2012 Mar 25;484(7395):529-33. doi: 10.1038/nature10975. PMID: 22446627Free PMC Article

Therapy

Maxwell MB, Hom-Tedla MS, Yi J, Li S, Rivera SA, Yu J, Burns MJ, McRae HM, Stevenson BT, Coakley KE, Ho J, Gastelum KB, Bell JC, Jones AC, Eskander RN, Dykhuizen EC, Shadel GS, Kaech SM, Hargreaves DC
Cell 2024 Jun 20;187(13):3390-3408.e19. Epub 2024 May 15 doi: 10.1016/j.cell.2024.04.025. PMID: 38754421Free PMC Article
Lehal R, Zaric J, Vigolo M, Urech C, Frismantas V, Zangger N, Cao L, Berger A, Chicote I, Loubéry S, Choi SH, Koch U, Blacklow SC, Palmer HG, Bornhauser B, González-Gaitán M, Arsenijevic Y, Zoete V, Aster JC, Bourquin JP, Radtke F
Proc Natl Acad Sci U S A 2020 Jul 14;117(28):16292-16301. Epub 2020 Jun 29 doi: 10.1073/pnas.1922606117. PMID: 32601208Free PMC Article
Megías-Vericat JE, Ballesta-López O, Barragán E, Martínez-Cuadrón D, Montesinos P
Blood Rev 2020 Nov;44:100675. Epub 2020 Mar 2 doi: 10.1016/j.blre.2020.100675. PMID: 32147087
Duployez N, Marceau-Renaut A, Boissel N, Petit A, Bucci M, Geffroy S, Lapillonne H, Renneville A, Ragu C, Figeac M, Celli-Lebras K, Lacombe C, Micol JB, Abdel-Wahab O, Cornillet P, Ifrah N, Dombret H, Leverger G, Jourdan E, Preudhomme C
Blood 2016 May 19;127(20):2451-9. Epub 2016 Mar 15 doi: 10.1182/blood-2015-12-688705. PMID: 26980726Free PMC Article
Juhl-Christensen C, Ommen HB, Aggerholm A, Lausen B, Kjeldsen E, Hasle H, Hokland P
Pediatr Blood Cancer 2012 Apr;58(4):525-31. Epub 2011 Nov 21 doi: 10.1002/pbc.23397. PMID: 22331798

Prognosis

Hennawi M, Pakasticali N, Tashkandi H, Hussaini M
Int J Mol Sci 2022 Sep 24;23(19) doi: 10.3390/ijms231911259. PMID: 36232559Free PMC Article
Wen S, Wei Y, Zen C, Xiong W, Niu Y, Zhao Y
Mol Cancer 2020 Dec 12;19(1):171. doi: 10.1186/s12943-020-01293-4. PMID: 33308223Free PMC Article
Veryaskina YA, Titov SE, Kovynev IB, Pospelova TI, Zhimulev IF
Medicina (Kaunas) 2020 Jul 27;56(8) doi: 10.3390/medicina56080376. PMID: 32727068Free PMC Article
Yang X, Song H, Leslie G, Engel C, Hahnen E, Auber B, Horváth J, Kast K, Niederacher D, Turnbull C, Houlston R, Hanson H, Loveday C, Dolinsky JS, LaDuca H, Ramus SJ, Menon U, Rosenthal AN, Jacobs I, Gayther SA, Dicks E, Nevanlinna H, Aittomäki K, Pelttari LM, Ehrencrona H, Borg Å, Kvist A, Rivera B, Hansen TVO, Djursby M, Lee A, Dennis J, Bowtell DD, Traficante N, Diez O, Balmaña J, Gruber SB, Chenevix-Trench G, Investigators K, Jensen A, Kjær SK, Høgdall E, Castéra L, Garber J, Janavicius R, Osorio A, Golmard L, Vega A, Couch FJ, Robson M, Gronwald J, Domchek SM, Culver JO, de la Hoya M, Easton DF, Foulkes WD, Tischkowitz M, Meindl A, Schmutzler RK, Pharoah PDP, Antoniou AC
J Natl Cancer Inst 2020 Dec 14;112(12):1242-1250. doi: 10.1093/jnci/djaa030. PMID: 32107557Free PMC Article
Tyner JW, Tognon CE, Bottomly D, Wilmot B, Kurtz SE, Savage SL, Long N, Schultz AR, Traer E, Abel M, Agarwal A, Blucher A, Borate U, Bryant J, Burke R, Carlos A, Carpenter R, Carroll J, Chang BH, Coblentz C, d'Almeida A, Cook R, Danilov A, Dao KT, Degnin M, Devine D, Dibb J, Edwards DK 5th, Eide CA, English I, Glover J, Henson R, Ho H, Jemal A, Johnson K, Johnson R, Junio B, Kaempf A, Leonard J, Lin C, Liu SQ, Lo P, Loriaux MM, Luty S, Macey T, MacManiman J, Martinez J, Mori M, Nelson D, Nichols C, Peters J, Ramsdill J, Rofelty A, Schuff R, Searles R, Segerdell E, Smith RL, Spurgeon SE, Sweeney T, Thapa A, Visser C, Wagner J, Watanabe-Smith K, Werth K, Wolf J, White L, Yates A, Zhang H, Cogle CR, Collins RH, Connolly DC, Deininger MW, Drusbosky L, Hourigan CS, Jordan CT, Kropf P, Lin TL, Martinez ME, Medeiros BC, Pallapati RR, Pollyea DA, Swords RT, Watts JM, Weir SJ, Wiest DL, Winters RM, McWeeney SK, Druker BJ
Nature 2018 Oct;562(7728):526-531. Epub 2018 Oct 17 doi: 10.1038/s41586-018-0623-z. PMID: 30333627Free PMC Article

Clinical prediction guides

Maxwell MB, Hom-Tedla MS, Yi J, Li S, Rivera SA, Yu J, Burns MJ, McRae HM, Stevenson BT, Coakley KE, Ho J, Gastelum KB, Bell JC, Jones AC, Eskander RN, Dykhuizen EC, Shadel GS, Kaech SM, Hargreaves DC
Cell 2024 Jun 20;187(13):3390-3408.e19. Epub 2024 May 15 doi: 10.1016/j.cell.2024.04.025. PMID: 38754421Free PMC Article
Zhai X, Cao S, Wang J, Qiao B, Liu X, Hua R, Zhao M, Sun S, Han Y, Wu S, Pang J, Yuan Q, Wang B, Xu F, Wei S, Chen Y
Circulation 2024 May 28;149(22):1752-1769. Epub 2024 Feb 13 doi: 10.1161/CIRCULATIONAHA.123.065830. PMID: 38348663
Adane B, Alexe G, Seong BKA, Lu D, Hwang EE, Hnisz D, Lareau CA, Ross L, Lin S, Dela Cruz FS, Richardson M, Weintraub AS, Wang S, Iniguez AB, Dharia NV, Conway AS, Robichaud AL, Tanenbaum B, Krill-Burger JM, Vazquez F, Schenone M, Berman JN, Kung AL, Carr SA, Aryee MJ, Young RA, Crompton BD, Stegmaier K
Cancer Cell 2021 Jun 14;39(6):827-844.e10. doi: 10.1016/j.ccell.2021.05.007. PMID: 34129824Free PMC Article
Wen S, Wei Y, Zen C, Xiong W, Niu Y, Zhao Y
Mol Cancer 2020 Dec 12;19(1):171. doi: 10.1186/s12943-020-01293-4. PMID: 33308223Free PMC Article
Tyner JW, Tognon CE, Bottomly D, Wilmot B, Kurtz SE, Savage SL, Long N, Schultz AR, Traer E, Abel M, Agarwal A, Blucher A, Borate U, Bryant J, Burke R, Carlos A, Carpenter R, Carroll J, Chang BH, Coblentz C, d'Almeida A, Cook R, Danilov A, Dao KT, Degnin M, Devine D, Dibb J, Edwards DK 5th, Eide CA, English I, Glover J, Henson R, Ho H, Jemal A, Johnson K, Johnson R, Junio B, Kaempf A, Leonard J, Lin C, Liu SQ, Lo P, Loriaux MM, Luty S, Macey T, MacManiman J, Martinez J, Mori M, Nelson D, Nichols C, Peters J, Ramsdill J, Rofelty A, Schuff R, Searles R, Segerdell E, Smith RL, Spurgeon SE, Sweeney T, Thapa A, Visser C, Wagner J, Watanabe-Smith K, Werth K, Wolf J, White L, Yates A, Zhang H, Cogle CR, Collins RH, Connolly DC, Deininger MW, Drusbosky L, Hourigan CS, Jordan CT, Kropf P, Lin TL, Martinez ME, Medeiros BC, Pallapati RR, Pollyea DA, Swords RT, Watts JM, Weir SJ, Wiest DL, Winters RM, McWeeney SK, Druker BJ
Nature 2018 Oct;562(7728):526-531. Epub 2018 Oct 17 doi: 10.1038/s41586-018-0623-z. PMID: 30333627Free PMC Article

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