Identification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome

References

• Xu XL, Singh HP, Wang L, Qi D-L, Poulos BK, Abramson DH, Jhanwar SC, Cobrinik D. Rb suppresses human cone-precursor-derived retinoblastoma tumours. Nature. 2014;514(7522):385–88. doi:10.1038/nature13813.
   PubMed Web of Science ®Google Scholar
• Dimaras H, Khetan V, Halliday W, Orlic M, Prigoda NL, Piovesan B, Marrano P, Corson TW, Eagle RC, Squire JA. Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma. Hum Mol Genet. 2008;17(10):1363–72. doi:10.1093/hmg/ddn024.
   PubMed Web of Science ®Google Scholar
• Marshall AE, Roes MV, Passos DT, DeWeerd MC, Chaikovsky AC, Sage J, Howlett CJ, Dick FA. RB1 deletion in retinoblastoma protein pathway-disrupted cells results in DNA damage and cancer progression. Mol Cell Biol. 2019;39(16):16. doi:10.1128/MCB.00105-19.
   Web of Science ®Google Scholar
• Rushlow DE, Mol BM, Kennett JY, Yee S, Pajovic S, Thériault BL, Prigoda-Lee NL, Spencer C, Dimaras H, Corson TW. Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. Lancet Oncol. 2013;14(4):327–34. doi:10.1016/S1470-2045(13)70045-7.
   PubMed Web of Science ®Google Scholar
• Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P. Identification of genetic variants for clinical management of familial colorectal tumors. BMC Med Genet. 2018;19(1):1–19. doi:10.1186/s12881-018-0533-9.
   PubMedGoogle Scholar
• Dommering CJ, Mol BM, Moll AC, Burton M, Cloos J, Dorsman JC, Meijers-Heijboer H, van der Hout AH. RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients. J Med Genet. 2014;51(6):366–74. doi:10.1136/jmedgenet-2014-102264.
   PubMed Web of Science ®Google Scholar
• Rojanaporn D, Boontawon T, Chareonsirisuthigul T, Thanapanpanich O, Attaseth T, Saengwimol D, Anurathapan U, Sujirakul T, Kaewkhaw R, Hongeng S. Spectrum of germline RB1 mutations and clinical manifestations in retinoblastoma patients from Thailand. Mol Vis. 2018;24:778.
   PubMed Web of Science ®Google Scholar
• Tomar S, Sethi R, Sundar G, Quah TC, Quah BL, Lai P, Cai T. Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. PloS One. 2017;12(6):e0178776. doi:10.1371/journal.pone.0178776.
   PubMed Web of Science ®Google Scholar
• Alonso J, García-Miguel P, Abelairas J, Mendiola M, Sarret E, Vendrell MT, Navajas A, Pestaña A. Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: phenotypic and molecular epidemiological implications. Hum Mutat. 2001;17(5):412–22. doi:10.1002/humu.1117.
   PubMed Web of Science ®Google Scholar
• Chai P, Luo Y, Yu J, Li Y, Yang J, Zhuang A, Fan J, Han M, 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. 2021;205:108456. doi:10.1016/j.exer.2021.108456.
   PubMed Web of Science ®Google Scholar
• Abidi O, Knari S, Sefri H, Charif M, Senechal A, Hamel C, Rouba H, Zaghloul K, El Kettani A, Lenaers G, et al. Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma. Mol Vis. 2011;17:3541.
   PubMed Web of Science ®Google Scholar
• Macias M, Dean M, Atkinson A, Jiménez-Morales S, Garcia-Vazquez F, Saldaña-Alvarez Y, Ramirez-Bello J, Chávez M, Orozco L. Spectrum of RB1 gene mutations and loss of heterozygosity in Mexican patients with retinoblastoma: identification of six novel mutations. Cancer Biomarkers. 2008;4(2):93–99.
   PubMed Web of Science ®Google Scholar
• Bamne M, Ghule P, Jose J, Banavali S, Kurkure P, Amare P. Constitutional and somatic RB1 mutation spectrum in nonfamilial unilateral and bilateral retinoblastoma in India. Genet Test. 2005;9(3):200–11.
   PubMedGoogle Scholar
• Thirumalairaj K, Abraham A, Devarajan B, Gaikwad N, Kim U, Muthukkaruppan V, Vanniarajan A. A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients. J Hum Genet. 2015;60(9):547–52.
   PubMed Web of Science ®Google Scholar
• 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. 2020;13(3):152–59.
   PubMedGoogle Scholar
• Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody 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. 2015;17(5):405–23.
   PubMed Web of Science ®Google Scholar
• Parma D, Ferrer M, Luce L, Giliberto F, Szijan I. RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling. PloS One 2017;12(12):e0189736.
   PubMed Web of Science ®Google Scholar
• Valverde JR, Alonso J, Palacios I, Pestaña Á. RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database. BMC Genet. 2005;6(1):1–9.
   PubMedGoogle Scholar
• He M-Y, An Y, Gao Y-J, Qian X-W, Li G, Qian J. Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype–phenotype correlations. Mol Vis. 2014;20:545.
   PubMed Web of Science ®Google Scholar
• Lan X, Xu W, Tang X, Ye H, Song X, Lin L, Ren X, Yu G, Zhang H, Wu S. Spectrum of RB1 germline mutations and clinical features in unrelated chinese patients with retinoblastoma. Front Genet. 2020;11:142.
   PubMed Web of Science ®Google Scholar
• Lohmann DR, Gerick M, Brandt B, Oelschläger U, Lorenz B, Passarge E, Horsthemke B. Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma. Am J Hum Genet. 1997;61(2):282–94.
   PubMed Web of Science ®Google Scholar
• Francis JH, Richards AL, Mandelker DL, Berger MF, Walsh MF, Dunkel IJ, Donoghue MT, Abramson DH. Molecular changes in retinoblastoma beyond RB1: findings from next-generation sequencing. Cancers. 2021;13(1):149.
   PubMed Web of Science ®Google Scholar
• Chau BN, Wang JYJNRC. Coordinated regulation of life and death by RB. Nat Rev Cancer. 2003;3(2):130–38.
   PubMed Web of Science ®Google Scholar
• Dick FA, Rubin S. Molecular mechanisms underlying RB protein function. Nat Rev Mol Cell Biol. 2013;14(5):297–306.
   PubMed Web of Science ®Google Scholar
• Munro S, Carr S, La Thangue NJO. Diversity within the pRb pathway: is there a code of conduct? Oncogene. 2012;31(40):4343–52.
   PubMed Web of Science ®Google Scholar
• Korah J, Falah N, Lacerte A, Lebrun J. A transcriptionally active pRb–E2F1–P/CAF signaling pathway is central to TGF β-mediated apoptosis. Cell Death Dis. 2012;3(10):e407–e.
   PubMedGoogle Scholar
• Indovina P, Pentimalli F, Casini N, Vocca I, Giordano AJO. RB1 dual role in proliferation and apoptosis: cell fate control and implications for cancer therapy. Oncotarget. 2015;6(20):17873.
   PubMedGoogle Scholar
• Esuvaranathan K, Chiong E, Thamboo TP, Chan YH, Kamaraj R, Mahendran R, Teh M. Predictive value of p53 and pRb expression in superficial bladder cancer patients treated with BCG and interferon‐alpha. Cancer. 2007;109(6):1097–105.
   PubMed Web of Science ®Google Scholar
• Bosco EE, Wang Y, Xu H, Zilfou JT, Knudsen KE, Aronow BJ, Lowe SW, Knudsen ES. The retinoblastoma tumor suppressor modifies the therapeutic response of breast cancer. J Clin Invest. 2007;117(1):218–28.
   PubMed Web of Science ®Google Scholar
• Sharma A, Yeow W-S, Ertel A, Coleman I, Clegg N, Thangavel C, Morrissey C, Zhang X, Comstock CE, Witkiewicz AK, et al. The retinoblastoma tumor suppressor controls androgen signaling and human prostate cancer progression. J Clin Invest. 2010;120(12):4478–92.
   PubMed Web of Science ®Google Scholar
• Abramson DH, Gamell LS, Ellsworth RM, Kruger EF, Servodidio CA, Turner L, Sussman D. Unilateral retinoblastoma: new intraocular tumours after treatment. Br J Ophthalmol. 1994;78(9):698–701.
   PubMed Web of Science ®Google Scholar
• Shields CL, Shelil A, Cater J, Meadows AT, Shields J. Development of new retinoblastomas after 6 cycles of chemoreduction for retinoblastoma in 162 eyes of 106 consecutive patients. Arch Ophthalmol. 2003;121(11):1571–76.
   PubMedGoogle Scholar
• Laurie NA, Donovan SL, Shih C-S, Zhang J, Mills N, Fuller C, Teunisse A, Lam S, Ramos Y, Mohan A, et al. Inactivation of the p53 pathway in retinoblastoma. Nature. 2006;444(7115):61–66.
   PubMed Web of Science ®Google Scholar
• Ketteler P, Hülsenbeck I, Frank M, Schmidt B, Jöckel K-H, Lohmann D. The impact of RB1 genotype on incidence of second tumours in heritable retinoblastoma. Eur J Cancer. 2020;133:47–55.
   PubMed Web of Science ®Google Scholar