A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma

@article{Parsam2009ACS,
  title={A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma},
  author={Vidya Latha Parsam and Chitra Kannabiran and Santosh G. Honavar and Geeta K Vemuganti and Mohammad Javed Ali},
  journal={Journal of Genetics},
  year={2009},
  volume={88},
  pages={517-527}
}
Retinoblastoma (Rb) is the most common primary intraocular malignancy in children. It is brought about by the mutational inactivation of both alleles of RB1 gene in the developing retina. To identify the RB1 mutations, we analysed 74 retinoblastoma patients by screening the exons and the promoter region of RB1. The strategy used was to detect large deletions/duplications by fluorescent quantitative multiplex PCR; small deletions/insertions by fluorescent genotyping of RB1 alleles, and point… Expand
Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma
TLDR
This first report of RB1 gene screening in Moroccan patients with retinoblastoma shows a comparable mutational spectrum to those reported previously, which has evident importance for managing patients with retina cancer and their families. Expand
Identification of three new mutations in the RB1 gene in patients with sporadic retinoblastoma in Colombia.
TLDR
The results emphasize the importance of identifying mutations for genetic counseling and clinical management of sporadic retinoblastoma patients and identify a new RB1 gene variant. Expand
Identification of three new mutations in the RB1 gene in patients with sporadic retinoblastoma in Colombia
TLDR
The results emphasize the importance of identifying mutations for genetic counseling and clinical management of sporadic retinoblastoma patients and identify five variations in RB1 gene: three new mutations (one germline and two somatic mutations), one new polymorphism and one already reported somatic mutation. Expand
Genetic screening in Iranian patients with retinoblastoma
TLDR
In the most comprehensive RB1 screening in Iran, the RB1 mutations were evaluated in 106 patients with retinoblastoma, including 73 bilateral and 33 unilateral cases, with a detection rate of 66% and 12% in bilateral andilateral cases, respectively. Expand
Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan
TLDR
In addition to all bilateral RB patients in this cohort, 30% of unilateral cases showed germline mutation, which is critical for the genetic counseling regarding the risk for inherited RB in both unilateral and bilateral cases including those with no family history. Expand
Identification of five novel RB 1 gene mutations in Chinese patients with retinoblastoma
In order to identify the spectrum of RB1 gene mutation in Chinese retinoblastoma (RB) patients, a total of 38 RB patients, including 15 bilateral cases and 23 unilateral cases were included in thisExpand
Spectrum of RB1 Mutations in Argentine Patients: 20-years Experience in the Molecular Diagnosis of Retinoblastoma
TLDR
Genotype-phenotype correlations confirm that the retinoblastoma presentation is related to the type of mutation, but some exceptions may occur and it is crucial to be considered for genetic counseling. Expand
Uncommon RB1 somatic mutations in a unilateral retinoblastoma patient.
TLDR
The somatic origin of these mutations was vital to rule out the heritable condition in this patient, and a comprehensive approach, based on previous experience, was used to identify the causative RB1 mutations. Expand
Impact of RB1 gene mutation type in retinoblastoma patients on clinical presentation and management outcome.
TLDR
Despite the heterogeneous nature of RB1 gene mutations, tumor stage remains the most important predictive factor for clinical presentation and outcome and acceptor splice site and frameshift mutations are associated with more advanced tumor stage at diagnosis. Expand
RB1 gene mutations in retinoblastoma and its clinical correlation.
TLDR
Current laboratory testing of RB1 mutations may be feasible in determining the severity of the disease and patient counseling and the study provides a starting point for looking at correlations. Expand
...
1
2
3
4
...

References

SHOWING 1-10 OF 34 REFERENCES
Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysis.
TLDR
The mutation analysis presented here may provide a basis for the screening system of RB1 gene mutations in retinoblastoma patients and a constitutional somatic mosaicism was suggested in one bilateral patient. Expand
Mutational analysis of the RB1 gene in Indian patients with retinoblastoma
TLDR
Mutations were detected in about one-third of the cases, suggesting that hemizygous deletions at the RB1 locus or mutations outside the coding regions of RB1 may be responsible for the disease in the remaining patients. Expand
Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations
TLDR
A mutational screen of the exons and promoter of the RB1 gene in Indian patients with retinoblastoma found large deletions, epigenetic changes as well as mutations in non‐coding regions may be the cause of disease in the remainder of patients. Expand
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene
TLDR
The absence of detectable RB1 mutations in eight bilateral cases and eight unilateral tumors suggests that alternative genetic mechanisms may underlie the development of RB in certain individuals. Expand
Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF
TLDR
This study demonstrates the reliability of DHPLC for RB1 analysis, but also illustrates the need for a deletion scanning approach, and recommends that RB1 testing should be widely implemented in routine healthcare because this study clearly illustrates its feasibility. Expand
Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation.
TLDR
It is confirmed that screening for constitutional RB1 mutation should become an integral part of current management of any patient affected by retinoblastoma irrespective of the tumour laterality and familial background. Expand
Constitutional and somatic RB1 mutation spectrum in nonfamilial unilateral and bilateral retinoblastoma in India.
TLDR
The present studies demonstrated the efficacy of a multitechnique approach to detect various types of constitutional RB1 mutations such as RB1 deletion, deletion mosaicism, point mutation, mutation chimerism in patients of symptomatic/asymptomatic parents. Expand
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.
TLDR
A sensitive and efficient strategy to identify RB1 mutations that combines quantitative multiplex polymerase chain reaction (QM-PCR), double-exon sequencing, and promoter-targeted methylation-sensitive PCR is devised. Expand
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.
TLDR
No correlation between the location of frameshift or nonsense mutations and phenotypic features, including age at diagnosis, the number of tumor foci, and manifestation of nonocular tumors was observed, suggesting that mutations within the 3'-terminal region of the RB1 gene may not be oncogenic. Expand
RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database
TLDR
The analysis of RB1 gene mutations logged in the RBGMdb has shown relevant phenotype-genotype relationships and provided working hypothesis to ascertain mechanisms linking certain mutations to ethnicity, delayed onset of the disease and low-penetrance. Expand
...
1
2
3
4
...