The 12;21 translocation involving TEL and deletion of the other TEL allele: two frequently associated alterations found in childhood acute lymphoblastic leukemia.
- S. Raynaud, H. Cavé, B. Grandchamp
- 1 April 1996
The results indicate that the association between the t(12;21) and the deletion of the nontranslocated allele of TEL is among the most frequent abnormalities observed in B-lineage ALLs, and TEL as the actual target of 12p12-13 deletions in patients that associate a t( 12; 21) with a deletion.
Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.
- C. Guo, B. van Damme, Y. Vanrenterghem, K. Devriendt, J. Cassiman, P. Marynen
- BiologyJournal of Clinical Investigation
- 1 April 1995
A skewed pattern of X inactivation was demonstrated in DNA isolated from the patient's kidney and white blood cells: > 90% of the X chromosomes with the normal COL4A5 allele was inactivated and it is suggested that this skewed inactivation pattern is responsible for the absence of detectable normal COL 4A5 mRNA and hence the severe phenotype in this woman.
Genomic organization of TEL: the human ETS-variant gene 6.
- M. Baens, P. Peeters, C. Guo, J. Aerssens, P. Marynen
- BiologyGenome Research
- 1 May 1996
A detailed map of the genomic region containing the ETS-variant gene 6 (ETV6), involved in translocations and deletions associated with hematologic malignancies, is constructed and two new DNA polymorphisms were identified, which will be useful for the analysis of loss of heterozygosity reported for the ETV6 gene in leukemia.
Characterizing Associations and SNP-Environment Interactions for GWAS-Identified Prostate Cancer Risk Markers—Results from BPC3
- S. Lindstrom, F. Schumacher, P. Kraft
- BiologyPLoS ONE
- 24 February 2011
While these SNPs represent new independent risk factors for prostate cancer, there is little evidence for effect modification by other SNPs or by the environmental factors examined, and no evidence of pair-wise SNP-SNP interactions.
Comprehensive analysis of chromosome 1p deletions in neuroblastoma.
- J. Maris, C. Guo, G. Brodeur
- MedicineMedical and Pediatric Oncology
Data from a strictly representative cohort of 288 Children's Cancer Group neuroblastoma patients treated on the most recent phase III therapeutic trials support the hypothesis that inactivation of a tumor suppressing gene within 1p36.3 is associated with an increased risk for disease relapse.
Loss of heterozygosity at 1p36 independently predicts for disease progression but not decreased overall survival probability in neuroblastoma patients: a Children's Cancer Group study.
- J. Maris, M. Weiss, G. Brodeur
- MedicineJournal of Clinical Oncology
- 9 May 2000
Determination of 1p36 allelic status may be useful for predicting which neuroblastoma patients with otherwise favorable clinical and biologic features are more likely to have disease progression.
Loss of heterozygosity for chromosome 14q in neuroblastoma.
- P. Thompson, B. Seifried, P. White
- MedicineMedical and Pediatric Oncology
Findings suggest that a tumor suppressor gene involved in the initiation or progression of neuroblastoma is located within distal 14q, indicating that this abnormality may be a universal feature of Neuroblastoma tumor development.
Identification of a 1-megabase consensus region of deletion at 1p36.3 in primary neuroblastomas.
- M. Hogarty, X. Liu, J. Maris
- Medicine, BiologyMedical and Pediatric Oncology
- 1 December 2000
A 1-Mb consensus region of deletion within 1p36.3 defined by primary tumor deletions is identified, a physical map of the region that is being sequenced to completion is constructed, and candidate genes within this region are identified and prioritized for further analyses.
TEL gene is involved in myelodysplastic syndromes with either the typical t(5;12)(q33;p13) translocation or its variant t(10;12)(q24;p13).
- I. Wlodarska, C. Mecucci, J. Cassiman
- 15 May 1995
Clinicohematological data in these studies as well as the restriction mapping of chromosomal breakpoints strongly suggest that common features in MDSs involving the TEL gene are monocytosis and eosinophilia, and chromosomes other than no. 5 may be involved and at least a t(10;12)(q24;p13) variant chromosome translocation does exist in these M DSs.
Deletion of 11q23 is a frequent event in the evolution of MYCN single-copy high-risk neuroblastomas.
Structural rearrangements resulting in unb[11q] LOH commonly occur during the malignant evolution of high-risk neuroblastomas with single-copy MYCN, and there was only a trend towards an independent prognostic influence in multivariate analyses.