Spectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients

References

• Kivela T. The epidemiological challenge of the most frequent eye cancer: retinoblastoma, an issue of birth and death. Br J Ophthalmol. 2009;93(9):1129–31. doi:10.1136/bjo.2008.150292.
   PubMed Web of Science ®Google Scholar
• Stacey AW, Bowman R, Foster A, Kivela TT, Munier FL, Cassoux N, Fabian ID, et al. Incidence of retinoblastoma has increased: results from 40 European countries. Ophthalmology. 2021;128(9):1369–71. doi:10.1016/j.ophtha.2021.01.024.
   PubMed Web of Science ®Google Scholar
• Jaradat I, Yousef YA, Mehyar M, Sultan I, Khurma S, Al-Rawashded K, Wilson M, Qaddoumi I, Salem A, Alnawaiseh I, et al. Retinoblastoma in Jordan: an epidemiological study (2006-2010). Hematol Oncol Stem Cell Ther. 2011;4(3):126–31. doi:10.5144/1658-3876.2011.126.
   PubMedGoogle Scholar
• Jin L, Zhang W, Pan H, Li T, Liu B, Zhao J, Wang B, et al. Retrospective investigation of retinoblastoma in Chinese patients. Oncotarget. 2017;8(65):108492–97. doi:10.18632/oncotarget.18174. PMC5752458:PMC5752458.
   PubMedGoogle Scholar
• Dimaras H, Kimani K, Dimba EAO, Gronsdahl P, White A, Chan HSL, et al. Retinoblastoma. Lancet. 2012;379(9824):1436–46. doi:10.1016/s0140-6736(11)61137-9.
   PubMed Web of Science ®Google Scholar
• Chen Z, Moran K, Richards-Yutz J, Toorens E, Gerhart D, Ganguly T, Shields CL, Ganguly A, et al. Enhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semiconductor sequencing. Hum Mutat. 2014;35(3):384–91. doi:10.1002/humu.22488. PMC4112364:PMC4112364.
   PubMed Web of Science ®Google Scholar
• Rushlow D, Piovesan B, Zhang K, Prigoda-Lee NL, Marchong MN, Clark RD, Gallie BL, et al. Detection of mosaic RB1 mutations in families with retinoblastoma. Hum Mutat. 2009;30(5):842–51. doi:10.1002/humu.20940.
   PubMed Web of Science ®Google Scholar
• Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet. 2015;31(7):382–92. doi:10.1016/j.tig.2015.03.013.
   PubMed Web of Science ®Google Scholar
• Lupski JR. New mutations and intellectual function. Nat Genet. 2010;42(12):1036–38. doi:10.1038/ng1210-1036.
   PubMed Web of Science ®Google Scholar
• Acuna-Hidalgo R, Bo T, Kwint MP, Van De Vorst M, Pinelli M, Veltman JA, Hoischen A, Vissers LLM, Gilissen C, et al. Post-Zygotic point mutations are an underrecognized source of de novo genomic variation. Am J Hum Genet. 2015;97(1):67–74. doi:10.1016/j.ajhg.2015.05.008.
   PubMed Web of Science ®Google Scholar
• Dal GM, Ergüner B, Sağıroğlu MS, Yüksel B, Onat OE, Alkan C, Özçelik T, et al. Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair. J Med Genet. 2014;51(7):455–59. doi:10.1136/jmedgenet-2013-102197.
   PubMed Web of Science ®Google Scholar
• Sippel KC, Fraioli RE, Smith GD, Schalkoff ME, Sutherland J, Gallie BL, Dryja TP, et al. Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet. 1998;62(3):610–19. doi:10.1086/301766.
   PubMed Web of Science ®Google Scholar
• Reddy MA, Butt M, Hinds AM, Duncan C, Price EA, Sagoo MS, Onadim Z, et al. Prognostic information for known genetic carriers of RB1 pathogenic variants (Germline and mosaic). Ophthalmol Retina. 2021;5(4):381–87. doi:10.1016/j.oret.2020.08.010.
   PubMedGoogle Scholar
• Tornaletti S, Pfeifer GP. Complete and tissue-independent methylation of CpG sites in the p53 gene: implications for mutations in human cancers. Oncogene. 1995;10(8):1493–99.
   PubMed Web of Science ®Google Scholar
• Mancini D, Singh S, Ainsworth P, Rodenhiser D. Constitutively methylated Cp G dinucleotides as mutation hot spots in the Retinoblastoma gene (RB1). Am J Hum Genet. 1997;61(1):80–87. doi:10.1086/513898.
   PubMed Web of Science ®Google Scholar
• Cooper DN, Krawczak M. Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes. Hum Genet. 1989;83(2):181–88. doi:10.1007/BF00286715.
   PubMed Web of Science ®Google Scholar
• Leuer M, Oldenburg J, Lavergne J-M, Ludwig M, Fregin A, Eigel A, Ljung R, Goodeve A, Peake I, Olek K, et al. Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet. 2001;69(1):75–87. doi:10.1086/321285.
   PubMed Web of Science ®Google Scholar
• Erickson RP. Somatic gene mutation and human disease other than cancer: an update. Mutat Res Rev Mutat Res. 2010;705(2):96–106. doi:10.1016/j.mrrev.2010.04.002.
   Web of Science ®Google Scholar
• Ma K. Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians. Am J Med Genet A. 2013;161A(12):3095–114. doi:10.1002/ajmg.a.36188.
   PubMedGoogle Scholar
• Muyas F, Zapata L, Guigo R, Ossowski S. The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues. Genome Med. 2020;12(1):49. doi:10.1186/s13073-020-00746-1. PMC7254727:PMC7254727.
   PubMed Web of Science ®Google Scholar
• Meldrum C, Doyle MA, Tothill RW. Next-Generation sequencing for cancer diagnostics: a practical perspective. Clin Biochem Rev. 2011;32(4):177.
   PubMedGoogle Scholar
• Meyer M, Briggs AW, Maricic T, Höber B, Höffner B, Krause J, Weihmann A, Pääbo S, Hofreiter M, et al. From micrograms to picograms: quantitative PCR reduces the material demands of high-throughput sequencing. Nucleic Acids Res. 2008;36(1):e5. doi:10.1093/nar/gkm1095.
   PubMed Web of Science ®Google Scholar
• Parkinson NJ, Maslau S, Ferneyhough B, Zhang G, Gregory L, Buck D, Ragoussis J, Ponting CP, Fischer MD, et al. Preparation of high-quality next-generation sequencing libraries from picogram quantities of target DNA. Genome Res. 2012;22(1):125–33. doi:10.1101/gr.124016.111.
   PubMed Web of Science ®Google Scholar
• Li M, Stoneking M. A new approach for detecting low-level mutations in next-generation sequence data. Genome Biol. 2012;13(5):1–15. doi:10.1186/gb-2012-13-5-r34.
   Web of Science ®Google Scholar
• Ju YS, Martincorena I, Gerstung M, Petljak M, Alexandrov LB, Rahbari R, Wedge DC, Davies HR, Ramakrishna M, Fullam A, et al. Somatic mutations reveal asymmetric cellular dynamics in the early human embryo. Nature. 2017;543(7647):714–18. doi:10.1038/nature21703. PMC6169740:PMC6169740.
   PubMed Web of Science ®Google Scholar
• Chander R, Varghese B, Jabeen M, Garg T, Jain M. CHILD syndrome with thrombocytosis and congenital dislocation of hip: a case report from India. Dermatol Online J. 2010;16(8). doi:10.5070/D31PV2R2NH.
   Google Scholar
• Happle R, Effendy I, Megahed M, Orlow SJ, Küster W. CHILD syndrome in a boy. Am J Med Genet. 1996;62(2):192–94. doi:10.1002/(SICI)1096-8628(19960315)62:2<192:AID-AJMG14>3.0.CO;2-J.
   PubMed Web of Science ®Google Scholar
• König A, Happle R, Bornholdt D, Engel H, Grzeschik KH. Mutations in the NSDHL gene, encoding a 3β‐hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet. 2000;90(4):339–46. doi:10.1002/(SICI)1096-8628(20000214)90:4<339:AID-AJMG15>3.0.CO;2-5.
   PubMed Web of Science ®Google Scholar
• Russell L, Russell W. Spontaneous mutations recovered as mosaics in the mouse specific-locus test. Proc Natl Acad Sci. 1996;93(23):13072–77. doi:10.1073/pnas.93.23.13072.
   PubMed Web of Science ®Google Scholar
• Vanneste E, Voet T, Le Caignec C, Ampe M, Konings P, Melotte C, Debrock S, Amyere M, Vikkula M, Schuit F, et al. Chromosome instability is common in human cleavage-stage embryos. Nat Med. 2009;15(5):577–83. doi:10.1038/nm.1924.
   PubMed Web of Science ®Google Scholar