1
|
Canty CA: Retinoblastoma: An overview for
advanced practice nurses. J Am Acad Nurse Pract. 21:149–155.
2009.PubMed/NCBI View Article : Google Scholar
|
2
|
Aerts I, Lumbroso-Le Rouic L,
Gauthier-Villars M, Brisse H, Doz F and Desjardis L:
Retinoblastoma. Orphanet J Rare Dis. 1(31)2006.PubMed/NCBI View Article : Google Scholar
|
3
|
Kim JY and Park Y: Treatment of
retinoblastoma: The role of external beam radiotherapy. Yonsei Med
J. 56:1478–1491. 2015.PubMed/NCBI View Article : Google Scholar
|
4
|
Abramson DH: Retinoblastoma: Saving life
with vision. Annu Rev Med. 65:171–184. 2014.PubMed/NCBI View Article : Google Scholar
|
5
|
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 View Article : Google Scholar
|
6
|
Valverde JR, Alonso J, Palacios I and
Pestaňa A: RB1 gene mutation up-date, a meta-analysis based on 932
reported mutations available in a searchable database. BMC Genet.
6(53)2005.PubMed/NCBI View Article : Google Scholar
|
7
|
Draper GJ, Sanders BM, Brownbill PA and
Hawkins MH: Patterns of risk of hereditary retinoblastoma and
applications to genetic counselling. Br J Cancer. 66:211–219.
1992.PubMed/NCBI View Article : Google Scholar
|
8
|
Rushlow D, Piovesan B, Zhang K,
Prigoda-Lee NL, Marchong MN, Clark RD and Gallie BL: Detection of
mosaic RB1 mutations in families with retinoblastoma. Hum Mutat.
30:842–851. 2009.PubMed/NCBI View Article : Google Scholar
|
9
|
Ali A, Kletke S, Gallie B and Lam WC:
Retinoblastoma for pediatric ophthalmologists. Asia Pac J
Ophthalmol (Phila). 7:160–168. 2018.PubMed/NCBI View Article : Google Scholar
|
10
|
Canadian Retinoblastoma Society. National
retinoblastoma strategy Canadian guidelines for care. Can J
Ophthalmol. 44 (Suppl 2):S9–S47. 2009.PubMed/NCBI View Article : Google Scholar
|
11
|
Dhar SU, Chintagumpala M, Noll C,
Chévez-Barrios P, Paysse EA and Plon SE: Outcomes of integrating
genetics in management of patients with retinoblastoma. Arch
Ophthalmol. 129:1428–1434. 2011.PubMed/NCBI View Article : Google Scholar
|
12
|
Joseph B, Shanmugam MP, Srinivasan MK and
Kumaramanickavel G: Retinoblastoma: Genetic testing versus
conventional clinical screening in India. Mol Diagn. 8:237–243.
2004.PubMed/NCBI View Article : Google Scholar
|
13
|
Berry JL, Kim JW, Damato BE and Singh AD
(eds): Clinical Ophthalmic Oncology: Retinoblastoma. Springer,
p303, 2019.
|
14
|
Ali MJ, Parsam VL, Honavar SG, Kannabiran
C, Vemuganti GK and Reddy VA: RB1 gene mutations in retinoblastoma
and its clinical correlation. Saudi J Ophthalmol. 24:119–123.
2010.PubMed/NCBI View Article : Google Scholar
|
15
|
Lohmann DR: RB1 gene mutations in
retinoblastoma. Hum Mutat. 14:283–288. 1999.PubMed/NCBI View Article : Google Scholar
|
16
|
Ellison G, Donald E, McWalter G, Knight L,
Fletcher L, Sherwood J, Cantarini M, Orr M and Speake G: A
comparison of ARMS and DNA sequencing for mutation analysis in
clinical biopsy samples. J Exp Clin Cancer Res.
29(132)2010.PubMed/NCBI View Article : Google Scholar
|
17
|
Richter S, Vandezande K, Chen N, Zhang K,
Sutherland J, Anderson J, Han L, Panton R, Branco P and Gallie B:
Sensitive and efficient detection of RB1 gene mutations enhances
care for families with retinoblastoma. Am J Hum Genet. 72:253–269.
2003.PubMed/NCBI View
Article : Google Scholar
|
18
|
Tomar S, Sethi R, Sundar G, Quah TC, Quah
BL and Lai PS: Mutation spectrum of RB1 mutations in retinoblastoma
cases from Singapore with implications for genetic management and
counselling. PLoS One. 6(e0178776)2017.PubMed/NCBI View Article : Google Scholar
|
19
|
Thirumalairaj K, Abraham A, Devarajan B,
Gaikwad N, Kim U, Muthukkaruppan V and Vanniarajan A: A stepwise
strategy for rapid and cost-effective RB1 screening in Indian
retinoblastoma patients. J Hum Genet. 60:547–552. 2015.PubMed/NCBI View Article : Google Scholar
|
20
|
Mehyar M, Mosallam M, Tbakhi A, Saab A,
Sultan I, Deebajah R, Jaradat I, AlJabari R, Mohammad M, AlNawaiseh
I, et al: Impact of RB1 gene mutation type in retinoblastoma
patients on clinical presentation and management outcome. Hematol
Oncol Stem Cell Ther. 13:152–159. 2020.PubMed/NCBI View Article : Google Scholar
|
21
|
Zhang Z, Xiao YS, Shen R, Jiang HC, Tan L,
Li RQ, Yang XH, Gu HY, He WJ and Ma J: Next generation sequencing
of RB1 gene for the molecular diagnosis of ethnic minority with
retinoblastoma in Yunnan. BMC Med Genet. 21(230)2020.PubMed/NCBI View Article : Google Scholar
|
22
|
Xu L, Shen L, Polski A, Prabakar RK, Shah
R, Jubran R, Kim JW, Biegel J, Kuhn P, Cobrinik D, et al:
Simultaneous identification of clinically relevant RB1 mutations
and copy number alterations in aqueous humor of retinoblastoma
eyes. Ophthalmic Genet. 41:526–532. 2020.PubMed/NCBI View Article : Google Scholar
|
23
|
Chai P, Luo Y, Yu J, Li Y, Yang J, Zhuang
A, Fan J, Han M and Jia R: Clinical characteristics and germline
mutation spectrum of RB1 in Chinese patients with retinoblastoma: A
dual-center study of 145 patients. Exp Eye Res.
205(108456)2021.PubMed/NCBI View Article : Google Scholar
|
24
|
Zou Y, Li J, Hua P, Liang T, Ji X and Zhao
P: Spectrum of germline mutations in RB1 in Chinese patients with
retinoblastoma: Application of targeted next-generation sequencing.
Mol Vis. 27:1–16. 2021.PubMed/NCBI
|
25
|
Francis JH, Richards AL, Mandelker DL,
Berger MF, Walsh MF, Dunkel IJ, Donoghue MTA and Abramson DH:
Molecular changes in retinoblastoma beyond RB1: Findings from
next-generation sequencing. Cancers (Basel). 13(149)2021.PubMed/NCBI View Article : Google Scholar
|
26
|
Kiet NC, Khuong LT, Minh DD, Nguyen The
Vinh, Quan NHM, Xinh PT, Trang NNC, Luan NT, Khai NM and Vu HA:
Spectrum of mutations in the RB1 gene in Vietnamese patients with
retinoblastoma. Mol Vis. 25:215–221. 2019.PubMed/NCBI
|
27
|
Nguyen HH, Nguyen HTT, Vu NP, Le QT, Pham
CM, Huyen TT, Manh H, Pham HLB, Nguyen TD, Le HTT and Van Nong H:
Mutational screening of germline RB1 gene in Vietnamese patients
with retinoblastoma reveals three novel mutations. Mol Vis.
24:231–238. 2018.PubMed/NCBI
|
28
|
Knudson AG Jr: Mutation and cancer:
Statistical study of retinoblastoma. Proc Natl Acad Sci USA.
68:820–823. 1971.PubMed/NCBI View Article : Google Scholar
|
29
|
Dimaras H, Kimani K, Dimba EA, Gronsdahl
P, White A, Chan HS and Ballie BL: Retinoblastoma. Lancet.
379:1436–1446. 2012.PubMed/NCBI View Article : Google Scholar
|
30
|
Lohmann DL and Gallie BL: Retinoblastoma:
Revisiting the model prototype of inherited cancer. Am J Med Genet
C Semin Med Genet. 129C:23–28. 2004.PubMed/NCBI View Article : Google Scholar
|
31
|
Zajaczek S, Jakubowska A, Kurzawski G,
Krzystolik Z and Lubiński J: Age at diagnosis to discriminate those
patients for whom constitutional DNA sequencing is appropriate in
sporadic unilateral retinoblastoma. Eur J Cancer. 34:1919–1921.
1998.PubMed/NCBI View Article : Google Scholar
|
32
|
Schüler A, Weber S, Neuhäuser M, Jurklies
C, Lehnert T, Heimann H, Rudolph G, Jöckel KH, Bornfeld N and
Lohmann DR: Age at diagnosis of isolated unilateral retinoblastoma
does not distinguish patients with and without a constitutional RB1
gene mutation but is influenced by a parent-of-origin effect. Eur J
Cancer. 41:735–740. 2005.PubMed/NCBI View Article : Google Scholar
|
33
|
Lohmann DR, Gerick M, Brandt B,
Oelschläger U, Lorenz B, Passarge E and Horsthemke B:
Constitutional RB1-gene mutations in patients with isolated
unilateral retinoblastoma. Am J Hum Genet. 61:282–294.
1997.PubMed/NCBI View
Article : Google Scholar
|
34
|
Berry JL, Lewis L, Zolfaghari E, Green S,
Le BHA, Lee TC, Murphree AL, Kim JW and Jubran R: Lack of
correlation between age at diagnosis and RB1 mutations for
unilateral retinoblastoma: The importance of genetic testing.
Ophthalmic Genet. 39:407–409. 2018.PubMed/NCBI View Article : Google Scholar
|
35
|
Richards S, Aziz N, Bale S, Bick D, Das S,
Gastier-Foster J, Brody WW, Hegde M, Lyon E, Spector E, et al:
Standards and guidelines for the interpretation of sequence
variants: A joint consensus recommendation of the American college
of medical genetics and genomics and the association for molecular
pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar
|
36
|
den Dunnen JT, Dalgleish R, Maglott DR,
Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T,
Antonarakis SE and Taschner PE: HGVS recommendations for the
description of sequence variants: 2016 update. Hum Mutat.
37:564–569. 2016.PubMed/NCBI View Article : Google Scholar
|
37
|
Landrum MJ, Lee JM, Riley GR, Jang W,
Rubinstein WS, Church DM and Maglott DR: ClinVar: Public archive of
relationships among sequence variation and human phenotype. Nucleic
Acids Res. 42:D980–D985. 2014.PubMed/NCBI View Article : Google Scholar
|
38
|
Béroud C, Collod-Béroud G, Boileau C,
Soussi T and Junien C: UMD (Universal mutation database): A generic
software to build and analyze locus-specific databases. Hum Mutat.
15:86–94. 2000.PubMed/NCBI View Article : Google Scholar
|
39
|
Fokkema IF, Taschner PE, Schaafsma GC,
Celli J, Laros JF and den Dunnen JT: LOVD v.2.0: The next
generation in gene variant databases. Hum Mutat. 32:557–563.
2011.PubMed/NCBI View Article : Google Scholar
|
40
|
ARUP Scientific Resource for Research and
Education. Available from: https://arup.utah.edu/.
|
41
|
Vaser R, Adusumalli S, Leng SN, Sikic M
and Ng PC: SIFT missense predictions for genomes. Nat Protoc.
11:1–9. 2016.PubMed/NCBI View Article : Google Scholar
|
42
|
Adzhubei IA, Schmidt S, Peshkin L,
Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR: A
method and server for predicting damaging missense mutations. Nat
Methods. 7:248–249. 2010.PubMed/NCBI View Article : Google Scholar
|
43
|
Schwarz JM, Cooper DN, Schuelke M and
Seelow D: MutationTaster2: Mutation prediction for the
deep-sequencing age. Nat Methods. 11:361–362. 2014.PubMed/NCBI View Article : Google Scholar
|
44
|
Kopanos C, Tsiolkas V, Kouris A, Chapple
CE, Aguilera MA, Meyer R and Massouras A: VarSome: The human
genomic variant search engine. Bioinformatics. 35:1978–1980.
2019.PubMed/NCBI View Article : Google Scholar
|
45
|
Li Q and Wang K: InterVar: Clinical
interpretation of genetic variants by the 2015 ACMG-AMP guidelines.
Am J Hum Genet. 100:267–280. 2017.PubMed/NCBI View Article : Google Scholar
|
46
|
McLaren W, Gil L, Hunt SE, Riat HS,
Ritchie GS, Thormann A, Flicek P and Cunningham F: The ensembl
variant effect predictor. Genome Biol. 17(122)2016.PubMed/NCBI View Article : Google Scholar
|
47
|
Le VS, Tran KT, Bui HTP, Le HTT, Nguyen
CD, Do DH, Ly HTT, Pham LTD, Dao LTM and Nguyen LT: A Vietnamese
human genetic variation database. Hum Mutat. 40:1664–1675.
2019.PubMed/NCBI View Article : Google Scholar
|
48
|
Rentzsch P, Witten D, Cooper GM, Shendure
J and Kircher M: CADD: Predicting the deleteriousness of variants
throughout the human genome. Nucleic Acids Res. 47:D886–D894.
2019.PubMed/NCBI View Article : Google Scholar
|
49
|
Social Science Statistics. Available from:
https://www.socscistatistics.com/.
|
50
|
Schoonjans F, Zalata A, Depuydt CE and
Comhaire FH: MedCalc: A new computer program for medical
statistics. Comput Methods Programs Biomed. 48:257–262.
1995.PubMed/NCBI View Article : Google Scholar
|
51
|
Li WL, Buckley J, Sanchez-Lara PA,
Maglinte DT, Viduetsky L, Tatarinova TV, Aparicio JG, Kim JW, Au M,
Ostrow D, et al: A rapid and sensitive next-generation sequencing
method to detect RB1 mutations improves care for retinoblastoma
patients and their families. J Mol Diagn. 18:480–493.
2016.PubMed/NCBI View Article : Google Scholar
|
52
|
Singh J, Mishra A, Pandian AJ, Mallipatna
AC, Khetan V, Sripriya S, Kapoor S, Agarwal S, Sankaran S,
Katragadda S, et al: Next-generation sequencing-based method shows
increased mutation detection sensitivity in an Indian
retinoblastoma cohort. Mol Vis. 22:1036–1047. 2016.PubMed/NCBI
|
53
|
Grotta S, D'Elia G, Scavelli R, Genovese
S, Surace C, Sirleto P, Cozza R, Romanzo A, De lois MA, Valente P,
et al: Advantages of a next generation sequencing targeted approach
for the molecular diagnosis of retinoblastoma. BMC Cancer.
15(841)2015.PubMed/NCBI View Article : Google Scholar
|
54
|
He MY, An Y, Gao YJ, Qian XW, Li G and
Qian J: Screening of RB1 gene mutations in Chinese patients with
retinoblastoma and preliminary exploration of genotype-phenotype
correlations. Mol Vis. 20:545–552. 2014.PubMed/NCBI
|
55
|
Rojanaporn D, Boontawon T,
Chareonsirisuthigul T, Thanapanpanich O, Attaseth T, Saengwimol D,
Anurathapan U, Sujirakul T, Kaewkhaw R and Hongeng S: Spectrum of
germline RB1 mutations and clinical manifestations in
retinoblastoma patients from Thailand. Mol Vis. 24:778–788.
2018.PubMed/NCBI
|
56
|
Mohd Khalid MK, Yakob Y, Md Yasin R, Teik
K, Siew CG, Rahmat J, Ramasamy S and Alagaratnam J: Spectrum of
germ-line RB1 gene mutations in Malaysian patients with
retinoblastoma. Mol Vis. 21:1185–1190. 2015.PubMed/NCBI
|
57
|
Kircher M, Witten DM, Jain P, O'Roak BJ,
Cooper GM and Shendure J: A general framework for estimating the
relative pathogenicity of human genetic variants. Nat Genet.
46:310–315. 2014.PubMed/NCBI View Article : Google Scholar
|
58
|
Devarajan B, Prakash L, Kannan TR, Abraham
AA, Kim U, Muthukkaruppan V and Vanniarajan A: Targeted next
generation sequencing of RB1 gene for the molecular diagnosis of
Retinoblastoma. BMC Cancer. 15(320)2015.PubMed/NCBI View Article : Google Scholar
|
59
|
Chen Z, Moran K, Richards-Yutz J, Toorens
E, Gerhart D, Ganguly T, Shields CL and Ganguly A: Enhanced
sensitivity for detection of low-level germline mosaic RB1
mutations in sporadic retinoblastoma cases using deep semiconductor
sequencing. Hum Mutat. 35:384–391. 2014.PubMed/NCBI View Article : Google Scholar
|
60
|
Rodríguez-Martín C, Robledo C,
Gómez-Mariano G, Monzón S, Sastre A, Abelairas J, Sábado C,
Martín-Begué N, Ferreres JC, Fernández-Teijeiro A, et al: Frequency
of low-level and high-level mosaicism in sporadic retinoblastoma:
Genotype-phenotype relationships. J Hum Genet. 65:165–174.
2020.PubMed/NCBI View Article : Google Scholar
|
61
|
Parsam VL, Kannabiran C, Honavar S,
Vemuganti GK and Ali MJ: A comprehensive, sensitive and economical
approach for the detection of mutations in the RB1 gene in
retinoblastoma. J Genet. 88:517–527. 2009.PubMed/NCBI View Article : Google Scholar
|
62
|
Parma D, Ferrer M, Luce L, Giliberto F and
Szijan I: RB1 gene mutations in Argentine retinoblastoma patients.
Implications for genetic counseling. PLoS One.
12(e0189736)2017.PubMed/NCBI View Article : Google Scholar
|
63
|
Lan X, Xu W, Tang X, Ye H, Song X, Lin L,
Ren X, Yu G, Zhang H and Wu S: Spectrum of RB1 germline mutations
and clinical features in unrelated Chinese patients with
retinoblastoma. Front Genet. 11(142)2020.PubMed/NCBI View Article : Google Scholar
|
64
|
Berge EO, Knappskog S, Lillehaug JR and
Lønning PE: Alterations of the retinoblastoma gene in metastatic
breast cancer. Clin Exp Metastasis. 28:319–326. 2011.PubMed/NCBI View Article : Google Scholar
|
65
|
Kato MV, Ishizaki K, Toguchida J, Kaneko
A, Takayama J, Tanooka H, Kato T, Shimuzu T and Sasaki MS:
Mutations in the retinoblastoma gene and their expression in
somatic and tumor cells of patients with hereditary retinoblastoma.
Hum Mutat. 3:44–51. 1994.PubMed/NCBI View Article : Google Scholar
|
66
|
Fabian ID, Reddy A and Sagoo MS:
Classification and staging of retinoblastoma. Community Eye Health.
31:11–13. 2018.PubMed/NCBI
|