Genetics in ophthalmology: molecular blueprints of retinoblastoma.
Genetic testing
N-myc
RB1
Retinoblastoma
Journal
Human genomics
ISSN: 1479-7364
Titre abrégé: Hum Genomics
Pays: England
ID NLM: 101202210
Informations de publication
Date de publication:
01 09 2023
01 09 2023
Historique:
received:
18
04
2023
accepted:
25
08
2023
medline:
4
9
2023
pubmed:
2
9
2023
entrez:
1
9
2023
Statut:
epublish
Résumé
This review presents current knowledge on the molecular biology of retinoblastoma (RB). Retinoblastoma is an intraocular tumor with hereditary and sporadic forms. 8,000 new cases of this ocular malignancy of the developing retina are diagnosed each year worldwide. The major gene responsible for retinoblastoma is RB1, and it harbors a large spectrum of pathogenic variants. Tumorigenesis begins with mutations that cause RB1 biallelic inactivation preventing the production of functional pRB proteins. Depending on the type of mutation the penetrance of RB is different. However, in small percent of tumors additional genes may be required, such as MYCN, BCOR and CREBBP. Additionally, epigenetic changes contribute to the progression of retinoblastoma as well. Besides its role in the cell cycle, pRB plays many additional roles, it regulates the nucleosome structure, participates in apoptosis, DNA replication, cellular senescence, differentiation, DNA repair and angiogenesis. Notably, pRB has an important role as a modulator of chromatin remodeling. In recent years high-throughput techniques are becoming essential for credible biomarker identification and patient management improvement. In spite of remarkable advances in retinoblastoma therapy, primarily in high-income countries, our understanding of retinoblastoma and its specific genetics still needs further clarification in order to predict the course of this disease and improve therapy. One such approach is the tumor free DNA that can be obtained from the anterior segment of the eye and be useful in diagnostics and prognostics.
Identifiants
pubmed: 37658463
doi: 10.1186/s40246-023-00529-w
pii: 10.1186/s40246-023-00529-w
pmc: PMC10474694
doi:
Types de publication
Journal Article
Review
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
82Informations de copyright
© 2023. BioMed Central Ltd., part of Springer Nature.
Références
Science. 1987 Jun 26;236(4809):1657-61
pubmed: 2885916
PLoS One. 2017 Jun 2;12(6):e0178776
pubmed: 28575107
J Proteomics. 2017 Apr 21;159:77-91
pubmed: 28232133
J Cancer Res Clin Oncol. 2020 Aug;146(8):2029-2040
pubmed: 32474753
Eur J Cancer. 2020 Jul;133:47-55
pubmed: 32434110
Genes (Basel). 2019 Dec 11;10(12):
pubmed: 31835688
Invest Ophthalmol Vis Sci. 2007 Nov;48(11):4901-6
pubmed: 17962437
Pathol Oncol Res. 2012 Jul;18(3):703-12
pubmed: 22278416
Arch Ophthalmol. 2008 Mar;126(3):424-5
pubmed: 18332328
Cell Death Dis. 2021 Nov 23;12(12):1100
pubmed: 34815392
Cancers (Basel). 2021 Oct 10;13(20):
pubmed: 34680218
Pediatr Blood Cancer. 2006 Nov;47(6):801-5
pubmed: 16358310
Br J Ophthalmol. 2009 Jan;93(1):38-9
pubmed: 18838414
Cancer Lett. 2022 Oct 28;547:215870
pubmed: 35964818
Bioinform Biol Insights. 2015 May 12;9:89-101
pubmed: 25983556
BMC Cancer. 2015 Nov 04;15:841
pubmed: 26530098
Clin Proteomics. 2016 Oct 26;13:29
pubmed: 27799869
Front Genet. 2019 Nov 14;10:1155
pubmed: 31798638
Exp Eye Res. 2016 May;146:313-317
pubmed: 27068507
Nat Commun. 2022 Sep 21;13(1):5523
pubmed: 36130950
Front Immunol. 2023 Jun 09;14:1194590
pubmed: 37359513
Nature. 1986 Oct 16-22;323(6089):643-6
pubmed: 2877398
Cell Cycle. 2013 May 1;12(9):1416-23
pubmed: 23574720
Science. 1987 Mar 13;235(4794):1394-9
pubmed: 3823889
Lancet Oncol. 2013 Apr;14(4):327-34
pubmed: 23498719
Mol Cancer Res. 2018 Nov;16(11):1701-1712
pubmed: 30061186
Prog Mol Biol Transl Sci. 2015;134:503-16
pubmed: 26310174
Curr Opin Ophthalmol. 2012 Sep;23(5):355-63
pubmed: 22847030
Br J Ophthalmol. 2009 Jan;93(1):21-3
pubmed: 18621794
J Hum Genet. 2006;51(3):209-216
pubmed: 16463005
Int J Mol Sci. 2023 May 11;24(10):
pubmed: 37239954
PLoS One. 2016 Apr 26;11(4):e0153323
pubmed: 27115612
Oncol Lett. 2015 Mar;9(3):1244-1248
pubmed: 25663891
Nat Rev Mol Cell Biol. 2013 May;14(5):297-306
pubmed: 23594950
Lancet. 2012 Apr 14;379(9824):1436-46
pubmed: 22414599
Asia Pac J Ophthalmol (Phila). 2017 Mar-Apr;6(2):197-207
pubmed: 28399338
Ophthalmol Clin North Am. 2005 Mar;18(1):41-53, viii
pubmed: 15763190
Invest Ophthalmol Vis Sci. 2023 Feb 1;64(2):5
pubmed: 36729443
Genes (Basel). 2019 Nov 01;10(11):
pubmed: 31683923
Cancers (Basel). 2020 Sep 29;12(10):
pubmed: 33003565
Mamm Genome. 2017 Jun;28(5-6):198-212
pubmed: 28401291
Br J Ophthalmol. 2010 Nov;94(11):1432-6
pubmed: 20733021
Br J Cancer. 2013 Jul 23;109(2):512-25
pubmed: 23756868
FEBS J. 2022 Aug;289(15):4371-4382
pubmed: 34042282
Int Ophthalmol. 2017 Oct;37(5):1199-1204
pubmed: 27822637
Mol Cell Biol. 2000 May;20(10):3529-37
pubmed: 10779342
Front Genet. 2018 May 17;9:170
pubmed: 29868118
Cancers (Basel). 2020 Jun 12;12(6):
pubmed: 32545553
Proc Natl Acad Sci U S A. 1971 Apr;68(4):820-3
pubmed: 5279523
Mol Vis. 2015 Dec 14;21:1307-17
pubmed: 26730174
Proc Natl Acad Sci U S A. 2018 Oct 2;115(40):E9391-E9400
pubmed: 30213853
Cancers (Basel). 2021 Jan 05;13(1):
pubmed: 33466343
Eur J Med Genet. 2023 Jan;66(1):104674
pubmed: 36470558
J Med Genet. 2014 Jun;51(6):366-74
pubmed: 24688104
Oncogenesis. 2020 Feb 18;9(2):25
pubmed: 32071286
BMC Med Genomics. 2023 May 13;16(1):101
pubmed: 37179305
Nat Rev Cancer. 2018 Jul;18(7):442-451
pubmed: 29692417
Indian J Pediatr. 2018 Mar;85(3):228-236
pubmed: 28971364
Clin Exp Ophthalmol. 2014 Jan-Feb;42(1):33-52
pubmed: 24433356
Tumour Biol. 2016 Nov;37(11):14427-14441
pubmed: 27639385
Front Oncol. 2022 Nov 02;12:963780
pubmed: 36408154
Cells. 2022 May 18;11(10):
pubmed: 35626705
J Cell Physiol. 2013 Mar;228(3):525-35
pubmed: 22886479
Invest Ophthalmol Vis Sci. 2021 May 3;62(6):18
pubmed: 34003213
Br J Ophthalmol. 2009 Jan;93(1):24-7
pubmed: 18718969
Indian J Ophthalmol. 2023 Jul;71(7):2662-2676
pubmed: 37417104
Hum Mutat. 2007 Feb;28(2):159-67
pubmed: 16988938
Cold Spring Harb Perspect Biol. 2020 Feb 3;12(2):
pubmed: 32015099
Eur J Hum Genet. 2017 Feb;25(3):381-383
pubmed: 28000698
Nat Commun. 2021 Sep 22;12(1):5578
pubmed: 34552068
Int Ophthalmol Clin. 2019 Spring;59(2):95-99
pubmed: 30908283
J Cancer Res Clin Oncol. 2019 Jan;145(1):1-10
pubmed: 30350021
Neoplasia. 2005 Mar;7(3):200-6
pubmed: 15799820
Neoplasia. 2012 Dec;14(12):1213-22
pubmed: 23308053
J Med Genet. 2014 Mar;51(3):208-14
pubmed: 24225018
Int J Ophthalmol. 2020 Feb 18;13(2):325-341
pubmed: 32090044
Eye (Lond). 2020 Oct;34(10):1916-1924
pubmed: 32376976
BMC Cancer. 2015 Apr 28;15:320
pubmed: 25928201
Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3404-9
pubmed: 15452042
Clin Perinatol. 2021 Mar;48(1):53-70
pubmed: 33583507
Ann Oncol. 2022 Jun;33(6):578-592
pubmed: 35339647
Oncotarget. 2015 Jul 20;6(20):17873-90
pubmed: 26160835
Hum Mutat. 2009 May;30(5):842-51
pubmed: 19280657
Br J Ophthalmol. 2013 May;97(5):588-91
pubmed: 23426739
Hum Mol Genet. 2008 May 15;17(10):1363-72
pubmed: 18211953
Cold Spring Harb Perspect Biol. 2013 Mar 01;5(3):a008904
pubmed: 23457258
Int J Mol Sci. 2022 Nov 03;23(21):
pubmed: 36362243
Ophthalmic Res. 2023 Jan 23;66(1):516-528
pubmed: 36689924
Crit Rev Oncog. 2015;20(3-4):217-25
pubmed: 26349417
Annu Rev Pathol. 2015;10:547-62
pubmed: 25621664
Asia Pac J Ophthalmol (Phila). 2021 Mar-Apr 01;10(2):192-199
pubmed: 33793441
Eur J Cancer. 2021 Sep;154:277-287
pubmed: 34298378