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Biallelic RB1 Gene Mutation

MedGen UID:
1793175
Concept ID:
C5556734
Cell or Molecular Dysfunction
Synonyms: Biallelic RB Gene Mutation; Biallelic RB1 Mutation; Biallelic Retinoblastoma 1 Gene Mutation; Biallelic Retinoblastoma Gene Mutation; RB Biallelic Mutation; RB1 Biallelic Gene Mutation; RB1 Biallelic Mutation; RB1 Gene Biallelic Mutation

Definition

The presence of mutations in both alleles of the RB1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBiallelic RB1 Gene Mutation

Professional guidelines

PubMed

Lee YJ, Kim JH, Lee SY, Jo DH
Exp Eye Res 2024 Nov;248:110102. Epub 2024 Sep 18 doi: 10.1016/j.exer.2024.110102. PMID: 39303840
Zhou M, Tang J, Fan J, Wen X, Shen J, Jia R, Chai P, Fan X
Asia Pac J Ophthalmol (Phila) 2024 Mar-Apr;13(2):100058. Epub 2024 Apr 12 doi: 10.1016/j.apjo.2024.100058. PMID: 38615905
Derks JL, Leblay N, Lantuejoul S, Dingemans AC, Speel EM, Fernandez-Cuesta L
J Thorac Oncol 2018 Jun;13(6):752-766. Epub 2018 Feb 14 doi: 10.1016/j.jtho.2018.02.002. PMID: 29454048

Recent clinical studies

Etiology

Nag A, Khetan V
Indian J Ophthalmol 2024 Jun 1;72(6):778-788. Epub 2024 May 24 doi: 10.4103/IJO.IJO_2414_23. PMID: 38804799Free PMC Article
Jing M, He X, Cai CZ, Ma QZ, Li K, Zhang BX, Yin Y, Shi MS, Wang YS
Biochem Biophys Res Commun 2023 Nov 12;681:218-224. Epub 2023 Sep 27 doi: 10.1016/j.bbrc.2023.09.047. PMID: 37783120
Warner E, Herberts C, Fu S, Yip S, Wong A, Wang G, Ritch E, Murtha AJ, Vandekerkhove G, Fonseca NM, Angeles A, Beigi A, Schönlau E, Beja K, Annala M, Khalaf D, Chi KN, Wyatt AW
Clin Cancer Res 2021 Mar 15;27(6):1650-1662. Epub 2021 Jan 7 doi: 10.1158/1078-0432.CCR-20-3708. PMID: 33414135
Mehyar M, Mosallam M, Tbakhi A, Saab A, Sultan I, Deebajah R, Jaradat I, AlJabari R, Mohammad M, AlNawaiseh I, Al-Hussaini M, Yousef YA
Hematol Oncol Stem Cell Ther 2020 Sep;13(3):152-159. Epub 2020 Mar 23 doi: 10.1016/j.hemonc.2020.02.006. PMID: 32222358
Soliman SE, Racher H, Zhang C, MacDonald H, Gallie BL
Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):197-207. doi: 10.22608/APO.201711. PMID: 28399338

Diagnosis

Zhou M, Tang J, Fan J, Wen X, Shen J, Jia R, Chai P, Fan X
Asia Pac J Ophthalmol (Phila) 2024 Mar-Apr;13(2):100058. Epub 2024 Apr 12 doi: 10.1016/j.apjo.2024.100058. PMID: 38615905
Marković L, Bukovac A, Varošanec AM, Šlaus N, Pećina-Šlaus N
Hum Genomics 2023 Sep 1;17(1):82. doi: 10.1186/s40246-023-00529-w. PMID: 37658463Free PMC Article
AlAli A, Kletke S, Gallie B, Lam WC
Asia Pac J Ophthalmol (Phila) 2018 May-Jun;7(3):160-168. Epub 2018 May 8 doi: 10.22608/APO.201870. PMID: 29737052
Soliman SE, Racher H, Zhang C, MacDonald H, Gallie BL
Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):197-207. doi: 10.22608/APO.201711. PMID: 28399338
McEvoy JD, Dyer MA
Crit Rev Oncog 2015;20(3-4):217-25. doi: 10.1615/critrevoncog.2015013711. PMID: 26349417Free PMC Article

Therapy

Jing M, He X, Cai CZ, Ma QZ, Li K, Zhang BX, Yin Y, Shi MS, Wang YS
Biochem Biophys Res Commun 2023 Nov 12;681:218-224. Epub 2023 Sep 27 doi: 10.1016/j.bbrc.2023.09.047. PMID: 37783120
Mohl DA, Lagies S, Zodel K, Zumkeller M, Peighambari A, Ganner A, Plattner DA, Neumann-Haefelin E, Adlesic M, Frew IJ, Kammerer B
Cells 2023 Apr 7;12(8) doi: 10.3390/cells12081102. PMID: 37190010Free PMC Article
Zurita AJ, Graf RP, Villacampa G, Raskina K, Sokol E, Jin D, Antonarakis ES, Li G, Huang RSP, Casanova-Salas I, Vivancos A, Carles J, Ross JS, Schrock AB, Oxnard GR, Mateo J
JCO Precis Oncol 2022 Jul;6:e2200195. doi: 10.1200/PO.22.00195. PMID: 35820087Free PMC Article
Lee C, Kim JK
J Cell Physiol 2021 Apr;236(4):2318-2332. Epub 2020 Aug 25 doi: 10.1002/jcp.30022. PMID: 32840881Free PMC Article
Mehyar M, Mosallam M, Tbakhi A, Saab A, Sultan I, Deebajah R, Jaradat I, AlJabari R, Mohammad M, AlNawaiseh I, Al-Hussaini M, Yousef YA
Hematol Oncol Stem Cell Ther 2020 Sep;13(3):152-159. Epub 2020 Mar 23 doi: 10.1016/j.hemonc.2020.02.006. PMID: 32222358

Prognosis

Zhou M, Tang J, Fan J, Wen X, Shen J, Jia R, Chai P, Fan X
Asia Pac J Ophthalmol (Phila) 2024 Mar-Apr;13(2):100058. Epub 2024 Apr 12 doi: 10.1016/j.apjo.2024.100058. PMID: 38615905
Marković L, Bukovac A, Varošanec AM, Šlaus N, Pećina-Šlaus N
Hum Genomics 2023 Sep 1;17(1):82. doi: 10.1186/s40246-023-00529-w. PMID: 37658463Free PMC Article
Wu H, Yu Z, Liu Y, Guo L, Teng L, Guo L, Liang L, Wang J, Gao J, Li R, Yang L, Nie X, Su D, Liang Z
Cancer Commun (Lond) 2022 Dec;42(12):1367-1386. Epub 2022 Oct 20 doi: 10.1002/cac2.12372. PMID: 36264285Free PMC Article
Bertucci F, Ng CKY, Patsouris A, Droin N, Piscuoglio S, Carbuccia N, Soria JC, Dien AT, Adnani Y, Kamal M, Garnier S, Meurice G, Jimenez M, Dogan S, Verret B, Chaffanet M, Bachelot T, Campone M, Lefeuvre C, Bonnefoi H, Dalenc F, Jacquet A, De Filippo MR, Babbar N, Birnbaum D, Filleron T, Le Tourneau C, André F
Nature 2019 May;569(7757):560-564. Epub 2019 May 22 doi: 10.1038/s41586-019-1056-z. PMID: 31118521
AlAli A, Kletke S, Gallie B, Lam WC
Asia Pac J Ophthalmol (Phila) 2018 May-Jun;7(3):160-168. Epub 2018 May 8 doi: 10.22608/APO.201870. PMID: 29737052

Clinical prediction guides

Marković L, Bukovac A, Varošanec AM, Šlaus N, Pećina-Šlaus N
Hum Genomics 2023 Sep 1;17(1):82. doi: 10.1186/s40246-023-00529-w. PMID: 37658463Free PMC Article
Zhang X, Jin ZB
J Vis Exp 2022 Oct 11;(188) doi: 10.3791/62629. PMID: 36314812
Mehyar M, Mosallam M, Tbakhi A, Saab A, Sultan I, Deebajah R, Jaradat I, AlJabari R, Mohammad M, AlNawaiseh I, Al-Hussaini M, Yousef YA
Hematol Oncol Stem Cell Ther 2020 Sep;13(3):152-159. Epub 2020 Mar 23 doi: 10.1016/j.hemonc.2020.02.006. PMID: 32222358
Bertucci F, Ng CKY, Patsouris A, Droin N, Piscuoglio S, Carbuccia N, Soria JC, Dien AT, Adnani Y, Kamal M, Garnier S, Meurice G, Jimenez M, Dogan S, Verret B, Chaffanet M, Bachelot T, Campone M, Lefeuvre C, Bonnefoi H, Dalenc F, Jacquet A, De Filippo MR, Babbar N, Birnbaum D, Filleron T, Le Tourneau C, André F
Nature 2019 May;569(7757):560-564. Epub 2019 May 22 doi: 10.1038/s41586-019-1056-z. PMID: 31118521
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

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