RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients

Journal of Medical Genetics

Volumn 51, Issue 6, 2014, Pages 366-374

  Dommering, Charlotte J ^a   Mol, Berber M ^a   Moll, Annette C ^a   Burton, Margaret ^b   Cloos, Jacqueline ^a   Dorsman, Josephine C ^a   Meijers Heijboer, Hanne ^a   van der Hout, Annemarie H ^b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; RETINOBLASTOMA BINDING PROTEIN 1; RETINOBLASTOMA PROTEIN;

ARTICLE; CHILD; CHILDHOOD CANCER; CHROMOSOME DELETION; COHORT ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENETIC VARIABILITY; GERMLINE MUTATION; HUMAN; INDEL MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOSAICISM; NETHERLANDS; NONSENSE MUTATION; PRIORITY JOURNAL; RETINOBLASTOMA; EPIDEMIOLOGY; GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; PROCEDURES;

CHILD, PRESCHOOL; CHROMOSOME DELETION; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; NETHERLANDS; PEDIGREE; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN;

EID: 84901272540     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102264     Document Type: Article

References (47)

1. Dunn JM, Phillips RA, Becker AJ, Gallie BL. Identification of germline and somatic mutations affecting the retinoblastoma gene. Science 1988;241:1797-800.
2. Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Albert DM, Dryja TP. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 1986;323:643-6.
3. Knudson AGJ. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971;68:820-3.
4. Marees T, Moll AC, Imhof SM, de Boer MR, Ringens PJ, van Leeuwen FE. Risk of second malignancies in survivors of retinoblastoma: more than 40 years of follow-up. J Natl Cancer Inst 2008;100:1771-9.
5. Moll AC, Imhof SM, Bouter LM, Tan KE. Second primary tumors in patients with retinoblastoma. A review of the literature. Ophthalmic Genet 1997;18:27-34.
6. MacCarthy A, Bayne AM, Brownbill PA, Bunch KJ, Diggens NL, Draper GJ, Hawkins MM, Jenkinson HC, Kingston JE, Stiller CA, Vincent TJ, Murphy MF. Second and subsequent tumours among 1927 retinoblastoma patients diagnosed in Britain 1951-2004. Br J Cancer 2013;108:2455-63.
7. Moll AC, Kuik DJ, Bouter LM, den OW, Bezemer PD, Koten JW, Imhof SM, Kuyt BP, Tan KE. Incidence and survival of retinoblastoma in The Netherlands: a register based study 1862-1995. Br J Ophthalmol 1997;81:559-62.
8. Dommering CJ, van den Heuvel MR, Moll AC, Imhof SM, Meijers-Heijboer H, Henneman L. Reproductive decision-making: a qualitative study among couples at increased risk of having a child with retinoblastoma. Clin Genet 2010;78:334-41.
9. Dommering CJ, Garvelink MM, Moll AC, van Dijk J, Imhof SM, Meijers-Heijboer H, Henneman L. Reproductive behavior of individuals with increased risk of having a child with retinoblastoma. Clin Genet 2012;81:216-23.
10. Chellappan SP, Hiebert S, Mudryj M, Horowitz JM, Nevins JR. The E2F transcription factor is a cellular target for the RB protein. Cell 1991;65:1053-61.
11. Cobrinik D, Whyte P, Peeper DS, Jacks T, Weinberg RA. Cell cycle-specific association of E2F with the p130 E1A-binding protein. Genes Dev 1993;7:2392-404.
12. Zamanian M, La Thangue NB. Transcriptional repression by the Rb-related protein p107. Mol Biol Cell 1993;4:389-96.
13. Rushlow D, Piovesan B, Zhang K, Prigoda-Lee NL, Marchong MN, Clark RD, Gallie BL. Detection of mosaic RB1 mutations in families with retinoblastoma. Hum Mutat 2009;30:842-51.
14. Taylor M, Dehainault C, Desjardins L, Doz F, Levy C, Sastre X, Couturier J, Stoppa-Lyonnet D, Houdayer C, Gauthier-Villars M. Genotype-phenotype correlations in hereditary familial retinoblastoma. Hum Mutat 2007;28:284-93.
15. Valverde JR, Alonso J, Palacios I, Pestana A. RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database. BMC Genet 2005;6:53.
16. Zhang K, Nowak I, Rushlow D, Gallie BL, Lohmann DR. Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression. Hum Mutat 2008;29:475-84.
17. Price EA, Price K, Kolkiewicz K, Hack S, Reddy MA, Hungerford JL, Kingston JE, Onadim Z. Spectrum of RB1 mutations identified in 403 retinoblastoma patients. J Med Genet 2014;51:208-14.
18. Lohmann D, Degen S. LOVD gene homepage RB1. http://rb1-lovd.d-lohmann.de/ home.php?select_db=RB1 (accessed 15 Nov 2013).
19. Harbour JW. Overview of RB gene mutations in patients with retinoblastoma. Implications for clinical genetic screening. Ophthalmology 1998;105:1442-7.
20. Dommering CJ, Marees T, van der Hout AH, Imhof SM, Meijers-Heijboer H, Ringens PJ, van Leeuwen FE, Moll AC. RB1 mutations and second primary malignancies after hereditary retinoblastoma. Fam Cancer 2012;11:225-33.
21. Lohmann DR, Brandt B, Hopping W, Passarge E, Horsthemke B. Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. Hum Genet 1994;94:349-54.
22. Lohmann DR, Brandt B, Hopping W, Passarge E, Horsthemke B. The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. Am J Hum Genet 1996;58:940-9.
23. Mancini D, Singh S, Ainsworth P, Rodenhiser D. Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1). Am J Hum Genet 1997;61:80-7.
24. Nichols KE, Houseknecht MD, Godmilow L, Bunin G, Shields C, Meadows A, Ganguly A. Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. Hum Mutat 2005;25:566-74.
25. Hogg A, Bia B, Onadim Z, Cowell JK. Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma. Proc Natl Acad Sci USA 1993;90:7351-5.
26. Richter S, Vandezande K, Chen N, Zhang K, Sutherland J, Anderson J, Han L, Panton R, Branco P, Gallie B. Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. Am J Hum Genet 2003;72:253-69.
27. Genuardi M, Klutz M, Devriendt K, Caruso D, Stirpe M, Lohmann DR. Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma. Eur J Hum Genet 2001;9:690-4.
28. Onadim Z, Hogg A, Baird PN, Cowell JK. Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype. Proc Natl Acad Sci USA 1992;89:6177-81.
29. Albrecht P, Ansperger-Rescher B, Schuler A, Zeschnigk M, Gallie B, Lohmann DR. Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression. Hum Mutat 2005;26:437-45.
30. Scheffer H, Van Der Vlies P, Burton M, Verlind E, Moll AC, Imhof SM, Buys CH. Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense. J Med Genet 2000;37:E6.
31. Rushlow DE, Mol BM, Kennett JY, Yee S, Pajovic S, Theriault BL, Prigoda-Lee NL, Spencer C, Dimaras H, Corson TW, Pang R, Massey C, Godbout R, Jiang Z, Zacksenhaus E, Paton K, Moll AC, Houdayer C, Raizis A, Halliday W, Lam WL, Boutros PC, Lohmann D, Dorsman JC, Gallie BL. Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. Lancet Oncol 2013;14:327-34.
32. Alonso J, Frayle H, Menendez I, Lopez A, Garcia-Miguel P, Abelairas J, Sarret E, Vendrell MT, Navajas A, Artigas M, Indiano JM, Carbone A, Torrenteras C, Palacios I, Pestana A. Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients. Hum Mutat 2005;25:99.
33. Lohmann DR, Horsthemke B. No association between the presence of a constitutional RB1 gene mutation and age in 68 patients with isolated unilateral retinoblastoma. Eur J Cancer 1999;35:1035-6.
34. Mol BM, Massink MP, van der Hout AH, Dommering CJ, Zaman JM, Bosscha MI, Kors WA, Meijers-Heijboer HE, Kaspers GJ, Riele HT, Moll AC, Cloos J, Dorsman JC. High resolution SNP array profiling identifies variability in retinoblastoma genome stability. Genes Chromosomes Cancer 2014;53:1-14.
35. Zhu X, Dunn JM, Goddard AD, Squire JA, Becker A, Phillips RA, Gallie BL. Mechanisms of loss of heterozygosity in retinoblastoma. Cytogenet Cell Genet 1992;59:248-52.
36. Harbour JW. Molecular basis of low-penetrance retinoblastoma. Arch Ophthalmol 2001;119:1699-704.
37. Schubert EL, Strong LC, Hansen MF. A splicing mutation in RB1 in low penetrance retinoblastoma. Hum Genet 1997;100:557-63.
38. Chen Z, Moran K, Richards-Yutz J, Toorens E, Gerhart D, Ganguly T, Shields CL, Ganguly A. Enhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semi-conductor sequencing. Hum Mutat 2014;35:384-91.
39. Temming P, Viehmann A, Biewald E, Lohmann DR. Sporadic unilateral retinoblastoma or first sign of bilateral disease?. Br J Ophthalmol 2013;97:475-80.
40. Clarke AR, Maandag ER, van Roon M, van der Lugt NMT, van der Valk M, Hooper ML, Berns A, te Riele H. Requirement for a functional Rb-1 gene in murine development. Nature 1992;359:328-30.
41. Maandag EC, van der Valk M, Vlaar M, Feltkamp C, O'Brien J, van Roon M, van der LN, Berns A, te Riele H. Developmental rescue of an embryonic-lethal mutation in the retinoblastoma gene in chimeric mice. EMBO J 1994;13:4260-8.
42. MacPherson D. Insights from mouse models into human retinoblastoma. Cell Div 2008;3:9.
43. Robanus-Maandag E, Dekker M, van der Valk M, Carrozza ML, Jeanny JC, Dannenberg JH, Berns A, te Riele H. p107 is a suppressor of retinoblastoma development in pRb-deficient mice. Genes Dev 1998;12:1599-609.
44. Carvalho IN, Reis AH, Cabello PH, Vargas FR. Polymorphisms of CDKN1A gene and risk of retinoblastoma. Carcinogenesis 2013;34:2774-7.
45. Castera L, Sabbagh A, Dehainault C, Michaux D, Mansuet-Lupo A, Patillon B, Lamar E, Aerts I, Lumbroso-Le RL, Couturier J, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C. MDM2 as a modifier gene in retinoblastoma. J Natl Cancer Inst 2010;102:1805-8.
46. de Oliveira Reis AH, de CI, de Sousa Damasceno PB, Ferman SE, Lucena E, Lopez-Camelo JS, Seuanez HN, Vargas FR. Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma. Pediatr Blood Cancer 2012;59:39-43.
47. Epistolato MC, Disciglio V, Livide G, Berchialla P, Mencarelli MA, Marozza A, Amenduni M, Hadjistilianou T, De FS, Acquaviva A, Toti P, Cetta F, Ariani F, De MM, Renieri A, Giachino D. p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma. J Hum Genet 2011;56:685-6.