t(6;12)(p21;p13) CCND3/ETV6 in lymphoid malignancies
2006-08-01 María D Odero   Affiliation1.Departamento de Genética, Facultad de Ciencias Àrea de Oncología, Centro de Investigaciò_n Médica Aplicada (CIMA) Universidad de Navarra, 31008 Pamplona, España
Clinics and Pathology
Disease
Phenotype stem cell origin
Prognosis
Cytogenetics
Cytogenetics morphological
Cytogenetics molecular
Additional anomalies
Variants
Definition
{"GENE_NAME":"<CC: TXT: ETV6 ID: 38 > (ets variant 6)","ID":"38","LOCATION":"12p13.2","NOTE":"The gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma,"DNA_RNA_DESCRIPTION":"9 exons; alternate splicing.","PROTEIN_DESCRIPTION":"The gene encodes an ETS family transcription factor; the product of this gene contains a N-terminal pointed (PNT) domain that is involved in the protein-protein interactions, and a C-terminal ETS DNA-binding domain; wide expression; nuclear localization.","GENE_NAME1":"<CC: TXT: CCND3 ID: 955 > (cyclin D3)","ID2":"955","LOCATION3":"6p21.1","NOTE4":"Could be the putative gene involved on 6p21. No molecular studies on 6p21 are described in cases with t(6;12). In <CC: TXT: t(6;14)(p21;q32) ID: 1306>, the breakpoint is centromeric to the CCND3 gene, causing dysregulation and overexpression of CCND3.","DNA_RNA_DESCRIPTION5":".","PROTEIN_DESCRIPTION6":"."}
Result of the Chromosomal Anomaly
Description
Article Bibliography
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Summary

Citation
María D Odero
t(6;12)(p21;p13) CCND3/ETV6 in lymphoid malignancies
Atlas Genet Cytogenet Oncol Haematol. 2006-08-01
Online version: http://atlasgeneticsoncology.org/haematological/1424/t(6;12)(p21;p13)-ccnd3-etv6-in-lymphoid-malignancies
