CD6, CD6 molecule, 923

N. diseases: 216; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 GeneticVariation disease BEFREE Cytogenetic testing showed the t(12,22) translocation corresponding to the presence of the EWS/ATF1 hybrid consistent with CCS. 27719746 2017
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 GeneticVariation disease BEFREE This is supported by 11 cases of primary GI CCS with the t(12;22) translocation. 18408594 2008
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 GeneticVariation disease BEFREE Clear cell sarcoma of soft tissue (CCS-ST) is a rare malignant neoplasm characterized by a tumor-defining translocation [t(12;22) (q13;q12)], resulting in the EWS-ATF1 gene fusion. 16517477 2006
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 GeneticVariation disease BEFREE Molecular methods are sometimes necessary to identify the unique t(12; 22)(q13;q12) translocation and differentiate clear cell sarcoma from melanoma. 16519562 2006
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 GeneticVariation disease BEFREE Reverse transcription-polymerase chain reaction analysis performed on paraffin-embedded tissue showed EWS-ATF1 fusion transcripts representative of the t(12;22) (q13;q12) clear cell sarcoma reciprocal translocation. 16021514 2005
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 AlteredExpression disease BEFREE Expression profiling of t(12;22) positive clear cell sarcoma of soft tissue cell lines reveals characteristic up-regulation of potential new marker genes including ERBB3. 15150091 2004
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 Biomarker disease BEFREE We performed cytogenetic analyses on a primary and subsequent metastatic CCS that contained the t(12;22), along with other complex karyotypic changes. 15104285 2004
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 GeneticVariation disease BEFREE These findings may indicate the possible involvement of the ATF1 gene in clear cell melanoma tumorigenesis, similar to clear cell sarcoma with classical t(12;22) translocation. 16285301 2003
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 GeneticVariation disease BEFREE The translocation t(12;22)(q13;q12-13) has been reported as specific for clear cell sarcomas. 9422325 1998
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 GeneticVariation disease BEFREE The EWS-ATF-1 gene involved in malignant melanoma of soft parts with t(12;22) chromosome translocation, encodes a constitutive transcriptional activator. 8552387 1996
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 GeneticVariation disease BEFREE Furthermore, six of the translocations, namely the t(11;22), t(21;22), and t(7;22) of Ewing's sarcoma, the t(12;22) of clear cell sarcoma, the t(12;16) of myxoid liposarcoma, and the t(11;22) of desmoplastic small round cell tumor, achieve this following a peculiar pattern, consisting in the fusion of a gene with an RNA-binding domain (EWS or TLS) with a transcription factor gene (FLI1, ERG, ETV1, ATF-1, CHOP, or WT1). 7493135 1995
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 GeneticVariation disease BEFREE The breakpoints on 22q were in all 5 cases cytogenetically indistinguishable from those seen in Ewing's sarcoma with t(11;22), clear-cell sarcoma with t(12;22), and desmoplastic small round cell tumors with t(11;22). 7635565 1995
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 GeneticVariation disease BEFREE They include rearrangement of 8q12 in lipoblastomas, ring chromosomes in atypical lipomas, ring and giant marker chromosomes in well differentiated liposarcomas, t(12;16)(q13;p11) in myxoid liposarcomas, rearrangement of 7p21-22 in low-grade endometrial stromal sarcomas, t(2;13)(q37;q14) in alveolar rhabdomyosarcomas, t(X;18)(p11.2;q11.2) in synovial sarcomas, t(12;22) (q13;q13) in clear cell sarcomas, t(11;22)(q24;q12) in Ewing's sarcomas and peripheral neuroepitheliomas, and t(9;22)(q21-31;q11-12) in extraskeletal myxoid chondrosarcomas. 7828142 1994
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 GeneticVariation disease BEFREE EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts. 8401579 1993
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 Biomarker disease BEFREE We conclude that the finding of the specific translocation t(12;22) may prove to be an important marker in the differential diagnosis of clear cell sarcoma from some other soft tissue sarcomas and malignant melanoma. 7685631 1993
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 Biomarker disease BEFREE A similar or identical t(12;22) was recently reported in two of four clear-cell sarcomas. 1373311 1992
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 GeneticVariation disease BEFREE An identical or similar translocation has previously been reported in this type of tumor, suggesting that the t(12;22) is a primary cytogenetic change in the pathogenesis of a subset of clear-cell sarcomas. 1486558 1992
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
0.100 GeneticVariation disease BEFREE Clear cell sarcoma with t(12;22) (q13-14;q12). 1797088 1991