BCOR ITD

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Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Central Nervous System Tumor with BCOR Internal Tandem Duplication4
BCOR ITD	(diagnostic)	Diagnostic	B	Supports Positive	4	accepted	EID10800 The authors generated genome-wide DNA methylation profiles of 323 tumors with an institutional diagnosis of ‘primitive neuroectodermal tumors of the central nervous system (CNS-PNETs)’, which are hi… (full text at CIViC) PMID 26919435 · Sturm et al., 2016 · Open in CIViC	civic
BCOR ITD	(oncogenic)	Oncogenic	B	Supports Oncogenicity	4	accepted	EID10804 10/323 studied high-grade primitive neuroectodermal tumors of the central nervous system (CNS-HGPNETs) clustered together based on their unique methylation profile. 10/10 of those tumors exhibited in… (full text at CIViC) PMID 26919435 · Sturm et al., 2016 · Open in CIViC

Molecular profile

Therapy

Type

Level

Direction · significance

Rating (1–5)

Status

Evidence

Source

Central Nervous System Tumor with BCOR Internal Tandem Duplication4

BCOR ITD

(diagnostic)

Diagnostic

Supports Positive

accepted

EID10800

The authors generated genome-wide DNA methylation profiles of 323 tumors with an institutional diagnosis of ‘primitive neuroectodermal tumors of the central nervous system (CNS-PNETs)’, which are hi… (full text at CIViC)

PMID 26919435 · Sturm et al., 2016 · Open in CIViC

civic

BCOR ITD

(oncogenic)

Oncogenic

Supports Oncogenicity

accepted

EID10804

10/323 studied high-grade primitive neuroectodermal tumors of the central nervous system (CNS-HGPNETs) clustered together based on their unique methylation profile. 10/10 of those tumors exhibited in… (full text at CIViC)

PMID 26919435 · Sturm et al., 2016 · Open in CIViC

Clear Cell Sarcoma of the Kidney4
BCOR ITD	(diagnostic)	Diagnostic	B	Supports Positive	5	accepted	EID10801 BCOR internal tandem duplications (ITDs) were found frequently in cases of clear cell sarcoma of kidney (CCSK), a rare pediatric renal cancer. The study initially evaluated 3 CCSK samples by whole exo… (full text at CIViC) PMID 26573325 · Roy et al., 2015 · Open in CIViC	civic
BCOR ITD	(oncogenic)	Oncogenic	B	Supports Oncogenicity	4	accepted	EID10802 27 cases of CCSK were profiled by whole exome sequencing and whole transcriptomics, identifying BCOR ITDs in the majority (23/27, 85%). BCOR encodes a key constituent of a variant polycomb repressive… (full text at CIViC) PMID 26573325 · Roy et al., 2015 · Open in CIViC	civic
BCOR ITD	(diagnostic)	Diagnostic	B	Supports Positive	4	accepted	EID11423 High BCOR expression which was associated with an internal tandem duplication (ITD) of 89 to 144 bp in exon 16 of the BCOR gene was identified in 20 of 20 (100%) of cases of clear cell sarcoma of the … (full text at CIViC) PMID 26098867 · Ueno-Yokohata et al., 2015 · Open in CIViC	civic
BCOR ITD	(diagnostic)	Diagnostic	B	Supports Positive	3	accepted	EID11424 Whole transcriptome sequencing on tumors from 8 patients with clear cell sarcoma of the kidney identified BCOR ITD and overexpression of BCOR in all samples. The BCOR ITD was confirmed on tumor DNA.… (full text at CIViC) PMID 26516930 · Astolfi et al., 2015 · Open in CIViC	civic

Clear Cell Sarcoma of the Kidney4

BCOR ITD

(diagnostic)

Diagnostic

Supports Positive

accepted

EID10801

BCOR internal tandem duplications (ITDs) were found frequently in cases of clear cell sarcoma of kidney (CCSK), a rare pediatric renal cancer. The study initially evaluated 3 CCSK samples by whole exo… (full text at CIViC)

PMID 26573325 · Roy et al., 2015 · Open in CIViC

civic

BCOR ITD

(oncogenic)

Oncogenic

Supports Oncogenicity

accepted

EID10802

27 cases of CCSK were profiled by whole exome sequencing and whole transcriptomics, identifying BCOR ITDs in the majority (23/27, 85%). BCOR encodes a key constituent of a variant polycomb repressive… (full text at CIViC)

PMID 26573325 · Roy et al., 2015 · Open in CIViC

civic

BCOR ITD

(diagnostic)

Diagnostic

Supports Positive

accepted

EID11423

High BCOR expression which was associated with an internal tandem duplication (ITD) of 89 to 144 bp in exon 16 of the BCOR gene was identified in 20 of 20 (100%) of cases of clear cell sarcoma of the … (full text at CIViC)

PMID 26098867 · Ueno-Yokohata et al., 2015 · Open in CIViC

civic

BCOR ITD

(diagnostic)

Diagnostic

Supports Positive

accepted

EID11424

Whole transcriptome sequencing on tumors from 8 patients with clear cell sarcoma of the kidney identified BCOR ITD and overexpression of BCOR in all samples. The BCOR ITD was confirmed on tumor DNA.… (full text at CIViC)

PMID 26516930 · Astolfi et al., 2015 · Open in CIViC

civic

Sarcoma3
BCOR ITD	(diagnostic)	Diagnostic	B	Supports Positive	4	submitted	EID11524 Twenty nine cases of infantile sarcoma cases, including 22 cases of soft tissue undifferentiated round cell sarcoma (URCS) and 7 cases of primitive myxoid mesenchymal tumour, were profiled using RNA s… (full text at CIViC) PMID 26945340 · Kao et al., 2016 · Open in CIViC	civic
BCOR ITD	(diagnostic)	Diagnostic	B	Supports Positive	4	submitted	EID11525 Thirty three cases of undifferentiated round cell sarcoma with either BCOR internal tandem duplication or YWHAE fusions were reviewed in this cohort, comprising 31 infants and two adolescents. Of the … (full text at CIViC) PMID 32372022 · Antonescu et al., 2020 · Open in CIViC	civic
BCOR ITD	(diagnostic)	Diagnostic	B	Supports Positive	3	accepted	EID11589 BCOR expression was evaluated in a cohort of 25 small blue round cell tumors (SBRCTs) with BCOR fusions (BCOR::MAML3, BCOR::CCNB3), BCOR exon 15 ITDs, or YWHAE-NUTM2B fusion (which is known to upregul… (full text at CIViC) PMID 27428733 · Kao et al., 2016 · Open in CIViC	civic

Sarcoma3

BCOR ITD

(diagnostic)

Diagnostic

Supports Positive

submitted

EID11524

Twenty nine cases of infantile sarcoma cases, including 22 cases of soft tissue undifferentiated round cell sarcoma (URCS) and 7 cases of primitive myxoid mesenchymal tumour, were profiled using RNA s… (full text at CIViC)

PMID 26945340 · Kao et al., 2016 · Open in CIViC

civic

BCOR ITD

(diagnostic)

Diagnostic

Supports Positive

submitted

EID11525

Thirty three cases of undifferentiated round cell sarcoma with either BCOR internal tandem duplication or YWHAE fusions were reviewed in this cohort, comprising 31 infants and two adolescents. Of the … (full text at CIViC)

PMID 32372022 · Antonescu et al., 2020 · Open in CIViC

civic

BCOR ITD

(diagnostic)

Diagnostic

Supports Positive

accepted

EID11589

BCOR expression was evaluated in a cohort of 25 small blue round cell tumors (SBRCTs) with BCOR fusions (BCOR::MAML3, BCOR::CCNB3), BCOR exon 15 ITDs, or YWHAE-NUTM2B fusion (which is known to upregul… (full text at CIViC)

PMID 27428733 · Kao et al., 2016 · Open in CIViC

civic

Evidence by cancer (11 items)

Clinical significance (0)