|
1
|
Parkin DM, Stiller CA, Draper GJ and
Bieber CA: The international incidence of childhood cancer. Int J
Cancer. 42:511–520. 1988. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Knudson AG Jr: Mutation and cancer:
Statistical study of retinoblastoma. Proc Natl Acad Sci USA.
68:820–823. 1971. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Friend SH, Bernards R, Rogelj S, Weinberg
RA, Rapaport JM, Albert DM and Dryja TP: A human DNA segment with
properties of the gene that predisposes to retinoblastoma and
osteosarcoma. Nature. 323:643–646. 1986. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Zhang J, Benavente CA, McEvoy J,
Flores-Otero J, Ding L, Chen X, Ulyanov A, Wu G, Wilson M, Wang J,
et al: A novel retinoblastoma therapy from genomic and epigenetic
analyses. Nature. 481:329–334. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Feinberg AP and Tycko B: The history of
cancer epigenetics. Nat Rev Cancer. 4:143–153. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Yamada Y, Jackson-Grusby L, Linhart H,
Meissner A, Eden A, Lin H and Jaenisch R: Opposing effects of DNA
hypomethylation on intestinal and liver carcinogenesis. Proc Natl
Acad Sci USA. 102:13580–13585. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Singh U, Malik MA, Goswami S, Shukla S and
Kaur J: Epigenetic regulation of human retinoblastoma. Tumour Biol.
37:14427–14441. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Benavente CA, McEvoy JD, Finkelstein D,
Wei L, Kang G, Wang YD, Neale G, Ragsdale S, Valentine V, Bahrami
A, et al: Cross-species genomic and epigenomic landscape of
retinoblastoma. Oncotarget. 4:844–859. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Li W, Liu J and Galvin JA: Epigenetics and
common ophthalmic diseases. Yale J Biol Med. 89:597–600.
2016.PubMed/NCBI
|
|
10
|
Franklin TB and Mansuy IM: Epigenetic
inheritance in mammals: Evidence for the impact of adverse
environmental effects. Neurobiol Dis. 39:61–65. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Sharma S, Kelly TK and Jones PA:
Epigenetics in cancer. Carcinogenesis. 31:27–36. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
McCabe MT, Davis JN and Day ML: Regulation
of DNA methyltransferase 1 by the pRb/E2F1 pathway. Cancer Res.
65:3624–3632. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Kooi IE, van Mil SE, MacPherson D, Mol BM,
Moll AC, Meijers-Heijboer H, Kaspers GJ, Cloos J, Te Riele H and
Dorsman JC: Genomic landscape of retinoblastoma in Rb−/−
p130−/− mice resembles human retinoblastoma. Genes
Chromosomes Cancer. 56:231–242. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Greger V, Passarge E, Höpping W, Messmer E
and Horsthemke B: Epigenetic changes may contribute to the
formation and spontaneous regression of retinoblastoma. Hum Genet.
83:155–158. 1989. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Qu Y, Mu G, Wu Y, Dai X, Zhou F, Xu X,
Wang Y and Wei F: Overexpression of DNA methyltransferases 1, 3a,
and 3b significantly correlates with retinoblastoma tumorigenesis.
Am J Clin Pathol. 134:826–834. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Berdasco M, Gómez A, Rubio MJ, Català-Mora
J, Zanón-Moreno V, Lopez M, Hernández C, Yoshida S, Nakama T,
Ishikawa K, et al: DNA methylomes reveal biological networks
involved in human eye development, functions and associated
disorders. Sci Rep. 7:117622017. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Livide G, Epistolato MC, Amenduni M,
Disciglio V, Marozza A, Mencarelli MA, Toti P, Lazzi S,
Hadjistilianou T, De Francesco S, et al: Epigenetic and copy number
variation analysis in retinoblastoma by MS-MLPA. Pathol Oncol Res.
18:703–712. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Stirzaker C, Millar DS, Paul CL, Warnecke
PM, Harrison J, Vincent PC, Frommer M and Clark SJ: Extensive DNA
methylation spanning the Rb promoter in retinoblastoma tumors.
Cancer Res. 57:2229–2237. 1997.PubMed/NCBI
|
|
19
|
Tosi GM, Trimarchi C, Macaluso M, La Sala
D, Ciccodicola A, Lazzi S, Massaro-Giordano M, Caporossi A,
Giordano A and Cinti C: Genetic and epigenetic alterations of
RB2/p130 tumor suppressor gene in human sporadic retinoblastoma:
Implications for pathogenesis and therapeutic approach. Oncogene.
24:5827–5836. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Yazici H, Dolapcioglu K, Buyru F and Dalay
N: Utility of c-erbB-2 expression in tissue and sera of ovarian
cancer patients. Cancer Invest. 18:110–114. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Atanesyan L, Steenkamer MJ, Horstman A,
Moelans CB, Schouten JP and Savola SP: Optimal Fixation Conditions
and DNA Extraction Methods for MLPA Analysis on FFPE Tissue-Derived
DNA. Am J Clin Pathol. 147:60–68. 2017.PubMed/NCBI
|
|
22
|
Coffa J, van de Wiel MA, Diosdado B,
Carvalho B, Schouten J and Meijer GA: MLPAnalyzer: data analysis
tool for reliable automated normalization of MLPA fragment data.
Cell Oncol. 30:323–335. 2008.PubMed/NCBI
|
|
23
|
van Eijk R, Eilers PH, Natte R,
Cleton-Jansen AM, Morreau H, van Wezel T and Oosting J: MLPAinter
for MLPA interpretation: an integrated approach for the analysis,
visualisation and data management of Multiplex Ligation-dependent
Probe Amplification. BMC Bioinformatics. 11:67–73. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Balaghi M and Wagner C: DNA methylation in
folate deficiency: Use of CpG methylase. Biochem Biophys Res
Commun. 193:1184–1190. 1993. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Saito Y, Kanai Y, Sakamoto M, Saito H,
Ishii H and Hirohashi S: Expression of mRNA for DNA
methyltransferases and methyl-CpG-binding proteins and DNA
methylation status on CpG islands and pericentromeric satellite
regions during human hepatocarcinogenesis. Hepatology. 33:561–568.
2001. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Livak KJ and Schmittgen TD: Analysis of
relative gene expression data using real-time quantitative PCR and
the 2(-Delta Delta C(T)) method. Methods. 25:402–408. 2001.
View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Soliman SE, Racher H, Zhang C, MacDonald H
and Gallie BL: Genetics and molecular diagnostics in
retinoblastoma-an update. Asia Pac J Ophthalmol (Phila). 6:197–207.
2017.PubMed/NCBI
|
|
28
|
Ortiz MV and Dunkel IJ: Retinoblastoma. J
Child Neurol. 31:227–236. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Cavenee WK, Dryja TP, Phillips RA,
Benedict WF, Godbout R, Gallie BL, Murphree AL, Strong LC and White
RL: Expression of recessive alleles by chromosomal mechanisms in
retinoblastoma. Nature. 305:779–784. 1983. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Gallie BL, Campbell C, Devlin H, Duckett A
and Squire JA: Developmental basis of retinal-specific induction of
cancer by RB mutation. Cancer Res. 59 (Suppl 7):1731S–1735S.
1999.PubMed/NCBI
|
|
31
|
Lohmann DR and Gallie BL: Retinoblastoma:
Revisiting the model prototype of inherited cancer. Am J Med Genet
C Semin Med Genet. 129C:23–28. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Costa-Pinheiro P, Montezuma D, Henrique R
and Jeronimo C: Diagnostic and prognostic epigenetic biomarkers in
cancer. Epigenomics. 7:1003–1015. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Jacks T, Fazeli A, Schmitt EM, Bronson RT,
Goodell MA and Weinberg RA: Effects of an Rb mutation in the mouse.
Nature. 359:295–300. 1992. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Wang Y, Hayward SW, Donjacour AA, Young P,
Jacks T, Sage J, Dahiya R, Cardiff RD, Day ML and bCunha GR: Sex
hormone-induced carcinogenesis in Rb-deficient prostate tissue.
Cancer Res. 60:6008–6017. 2000.PubMed/NCBI
|
|
35
|
Hurford RK Jr, Cobrinik D, Lee MH and
Dyson N: pRB and p107/p130 are required for the regulated
expression of different sets of E2F responsive genes. Genes Dev.
11:1447–1463. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
36
|
Dannenberg JH, van Rossum A, Schuijff L
and te Riele H: Ablation of the retinoblastoma gene family
deregulates G(1) control causing immortalization and increased cell
turnover under growth-restricting conditions. Genes Dev.
14:3051–3064. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
37
|
Sage J, Mulligan GJ, Attardi LD, Attardi
LD, Miller A, Chen S, Williams B, Theodorou E and Jacks T: Targeted
disruption of the three Rb-related genes leads to loss of G(1)
control and immortalization. Genes Dev. 14:3037–3050. 2000.
View Article : Google Scholar : PubMed/NCBI
|
|
38
|
McCabe MT, Azih OJ and Day ML:
pRb-Independent growth arrest and transcriptional regulation of E2F
target genes. Neoplasia. 7:141–151. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
39
|
Belinsky SA, Nikula KJ, Baylin SB and Issa
JP: Increased cytosine DNA-methyltransferase activity is
target-cell-specific and an early event in lung cancer. Proc Natl
Acad Sci USA. 93:4045–4050. 1996. View Article : Google Scholar : PubMed/NCBI
|
|
40
|
Girault I, Tozlu S, Lidereau R and Bieche
I: Expression analysis of DNA methyltransferases 1, 3A, and 3B in
sporadic breast carcinomas. Clin Cancer Res. 9:4415–4422.
2003.PubMed/NCBI
|
|
41
|
el-Deiry WS, Nelkin BD, Celano P, Yen RW,
Falco JP, Hamilton SR and Baylin SB: High expression of the DNA
methyltransferase gene characterizes human neoplastic cells and
progression stages of colon cancer. Proc Natl Acad Sci USA.
88:3470–3474. 1991. View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Patra SK, Patra A, Zhao H and Dahiya R:
DNA methyltransferase and demethylase in human prostate cancer. Mol
Carcinog. 33:163–171. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
43
|
Etoh T, Kanai Y, Ushijima S, Nakagawa T,
Nakanishi Y, Sasako M, Kitano S and Hirohashi S: Increased DNA
methyltransferase 1 (DNMT1) protein expression correlates
significantly with poorer tumor differentiation and frequent DNA
hypermethylation of multiple CpG islands in gastric cancers. Am J
Pathol. 164:689–699. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
44
|
Issa JP, Vertino PM, Wu J, Sazawal S,
Celano P, Nelkin BD, Hamilton SR and Baylin SB: Increased cytosine
DNA-methyltransferase activity during colon cancer progression. J
Natl Cancer Inst. 85:1235–1240. 1993. View Article : Google Scholar : PubMed/NCBI
|
|
45
|
Herman JG and Baylin SB: Gene silencing in
cancer in association with promoter hypermethylation. N Engl J Med.
349:2042–2054. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
46
|
Greger V, Debus N, Lohmann D, Hopping W,
Passarge E and Horsthemke B: Frequency and parental origin of
hypermethylated RB1 alleles in retinoblastoma. Hum Genet.
94:491–496. 1994. View Article : Google Scholar : PubMed/NCBI
|
|
47
|
Quiñonez-Silva G, Dávalos-Salas M,
Recillas-Targa F, Ostrosky-Wegman P, Aranda DA and
Benitez-Bribiesca L: ‘Monoallelic germline methylation and sequence
variant in the promoter of the RB1 gene: A possible constitutive
epimutation in hereditary retinoblastoma’. Clin Epigenetics.
8:12016. View Article : Google Scholar : PubMed/NCBI
|
|
48
|
Choy KW, Lee TC, Cheung KF, Fan DS, Lo KW,
Beaverson KL, Abramson DH, Lam DS, Yu CB and Pang CP: Clinical
implications of promoter hypermethylation in RASSF1A and MGMT in
retinoblastoma. Neoplasia. 7:200–206. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
49
|
Mol BM, Massink MP, van der Hout AH,
Dommering CJ, Zaman JM, Bosscha MI, Kors WA, Meijers-Heijboer HE,
Kaspers GJ, Riele HT, et al: High resolution SNP array profiling
identifies variability in retinoblastoma genome stability. Genes
Chromosomes Cancer. 53:1–14. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
50
|
Dimaras H, Khetan V, Halliday W, Orlic M,
Prigoda NL, Piovesan B, Marrano P, Corson TW, Eagle RC Jr, Squire
JA and Gallie BL: Loss of RB1 induces non-proliferative retinoma:
Increasing genomic instability correlates with progression to
retinoblastoma. Hum Mol Genet. 17:1363–1372. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
51
|
Flavahan WA, Gaskell E and Bernstein BE:
Epigenetic plasticity and the hallmarks of cancer. Science.
357(pii): eaal23802017. View Article : Google Scholar : PubMed/NCBI
|
|
52
|
Xia L, Huang W, Bellani M, Seidman MM, Wu
K, Fan D, Nie Y, Cai Y, Zhang YW, Yu LR, et al: CHD4 Has oncogenic
functions in initiating and maintaining epigenetic suppression of
multiple tumor suppressor genes. Cancer Cell. 31:653–668 e7. 2017.
View Article : Google Scholar : PubMed/NCBI
|
|
53
|
Smith ZD and Meissner A: DNA methylation:
Roles in mammalian development. Nat Rev Genet. 14:204–220. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
54
|
Akdeniz D, Tuncer SB, Kebudi R, Celik B,
Kuru G, Kilic S, Sukruoglu Erdogan O, Avsar M, Buyukkapu Bay S,
Tuncer S and Yazici H: Investigation of new candidate genes in
retinoblastoma using the TruSight One ‘clinical exome’ gene panel.
Mol Genet Genomic Med. 7:e7852019. View Article : Google Scholar : PubMed/NCBI
|
