Overview of RB gene mutations in patients with retinoblastoma: Implications for clinical genetic screening

Ophthalmology

Volumn 105, Issue 8, 1998, Pages 1442-1447

  Harbour, J William ^a,b  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BARNES RETINA INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; DNA SEQUENCE; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GERM LINE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; PROMOTER REGION; RETINOBLASTOMA; TUMOR SUPPRESSOR GENE;

EID: 0031737407     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(98)98025-3     Document Type: Article

References (39)

1. Char DH. Clinical Ocular Oncology, 2nd ed. Philadelphia: Lippincott-Raven, 1997;216-34.
2. Eng C, Li FP, Abramson DH, et al. Mortality from second tumors among long-term survivors of retinoblastoma. J Natl Cancer Inst 1993;85:1121-8.
3. Vogel F. Genetics of retinoblastoma. Hum Genet 1979;52:1-54.
4. Abramson DH, Gamell LS, Ellsworth RM, et al. Unilateral retinoblastoma: new intraocular tumours after treatment. Br J Ophthalmol 1994;78:698-701.
5. Noorani HZ, Khan HN, Gallie BL, Detsky AS. Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. Am J Hum Genet 1996;59:301-7.
6. Wiggs JL, Dryja TP. Predicting the risk of hereditary retinoblastoma. Am J Ophthalmol 1988;106:346-51.
7. Mukai S. Molecular genetic diagnosis of retinoblastoma. Semin Ophthalmol 1993;8:292-9.
8. Bunin GR, Emanuel BS, Meadows AT, et al. Frequency of 13q abnormalities among 203 patients with retinoblastoma. J Natl Cancer Inst 1989;81:370-4.
9. Kloss K, Wahrisch P, Greger V, et al. Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma. Am J Med Genet 1991;39:196-200.
10. Mastrangelo D, Squitieri N, Bruni S, et al. The polymerase chain reaction (PCR) in the routine genetic characterization of retinoblastoma: a tool for the clinical laboratory. Surv Ophthalmol 1997;41:331-40.
11. Lohmann DR, Brandt B, Hopping W, et al. The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. Am J Hum Genet 1996;58:940-9.
12. Hensey CE, Hong F, Durfee T, et al. Identification of discrete structural domains in the retinoblastoma protein. Amino-terminal domain is required for its oligomerization. J Biol Chem 1994;269:1380-7.
13. Hiebert SW. Regions of the retinoblastoma gene product required for its interaction with the E2F transcription factor are necessary for E2 promoter repression and pRb-mediated growth suppression. Mol Cell Biol 1993;13:3384-91.
14. Kaye FJ, Kratzke RA, Gerster JL, Horowitz JM. A single amino acid substitution results in a retinoblastoma protein defective in phosphorylation and oncoprotein binding. Proc Natl Acad Sci U S A 1990;87:6922-6.
15. Paggi MG, Martelli F, Fanciulli M, et al. Defective human retinoblastoma protein identified by lack of interaction with the E1A oncoprotein. Cancer Res 1994;54:1098-104.
16. 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 U S A 1992;89:6177-81.
17. Sakai T, Ohtani N, McGee TL, et al. Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature 1991;353:83-6.
18. Kato MV, Ishizaki K, Toguchida J, et al. Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma. Hum Mutat 1994;3:44-51.
19. Shimizu T, Toguchida J, Kato MV, et al. Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysis. Am J Hum Genet 1994; 54:793-800.
20. Bia B, Cowell JK. Independent constitutional germline mutations occurring in the RB1 gene in cousins with bilateral retinoblastoma. Oncogene 1995;11:977-9.
21. Hogg A, Onadim Z, Baird PN, Cowell JK. Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing. Oncogene 1992;7:1445-51.
22. Cowell JK, Bia B, Akoulitchev A. A novel mutation in the promotor region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene. Oncogene 1996;12:431-6.
23. Blanquet V, Turleau C, Gross-Morand MS, et al. Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. Hum Mol Genet 1995;4:383-8.
24. Weir-Thompson E, Condie A, Leonard RC, Prosser J. A familial RB1 mutation detected by the HOT technique is homozygous in a second primary neoplasm. Oncogene 1991; 6:2353-6.
25. Lohmann DR, Brandt B, Hopping W, et al. Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. Hum Genet 1994;94:349-54.
26. Lohmann DR, Brandt B, Hopping W, et al. Spectrum of small length germline mutations in the RB1 gene. Hum Mol Genet 1994;3:2187-93.
27. Lohmann D, Horsthemke B, Gillessen-Kaesbach G, et al. Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis. Hum Genet 1992;89:49-53.
28. Szijan I, Lohmann DR, Parma DL, et al. Identification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastoma. J Med Genet 1995;32:475-9.
29. Onadim Z, Hogg A, Cowell JK. Mechanisms of oncogenesis in patients with familial retinoblastoma. Br J Cancer 1993;68: 958-64.
30. Liu Z, Song Y, Bia B, Cowell JK. Germline mutations in the RB1 gene in patients with hereditary retinoblastoma. Genes Chromosomes Cancer 1995;14:277-84.
31. Dryja TP, Rapaport J, McGee TL, et al. Molecular etiology of low-penetrance retinoblastoma in two pedigrees. Am J Hum Genet 1993;52:1122-8.
32. Zhang Q, Minoda K. Mutation detection and genetic counseling in retinoblastoma using heteroduplex analysis. Jpn J Ophthalmol 1995;39:432-7.
33. Cowell JK, Smith T, Bia B. Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. Eur J Hum Genet 1994;2:281-90.
34. FB Hogervorst, Cornelis RS, Bout M, et al. Rapid detection of BRCA1 mutations by the protein truncation test. Nat Genet 1995;10:208-12.
35. Qin XQ, Chittenden T, Livingston DM, Kaelin WF Jr. Identification of a growth suppression domain within the retinoblastoma gene product. Genes Dev 1992;6:953-64.
36. Hollingsworth RE Jr, Chen PL, Lee WH. Integration of cell cycle control with transcriptional regulation by the retinoblastoma protein. Curr Opin Cell Biol 1993;5:194-200.
37. Aagaard L, Lukas J, Bartkova J, et al. Aberrations of p16Ink4 and retinoblastoma tumour-suppressor genes occur in distinct sub-sets of human cancer cell lines. Int J Cancer 1995;61:115-20.
38. Bartkova J, Lukas J, Guldberg P, et al. The p16-cyclin D/Cdk4-pRb pathway as a functional unit frequently altered in melanoma pathogenesis. Cancer Res 1996;56:5475-83.
39. Hacia JG, Brody LC, Chee MS, et al. Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nat Genet 1996; 14:441-7.