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CDKN2A Loss
genetic variant
Loss
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Statements
instance of
Loss Of Function Variant
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/554
chromosome
human chromosome 9
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/554
genomic start
21967752
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/554
genomic end
21994623
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/554
biological variant of
CDKN2A
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/554
positive therapeutic predictor for
palbociclib
determination method
CIViC evidence level D
rating
CIViC 3-star trust rating
medical condition treated
renal cell carcinoma
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1373
stated in
PD-0332991, a potent and selective inhibitor of cyclin-dependent kinase 4/6, demonstrates inhibition of proliferation in renal cell carcinoma at nanomolar concentrations and molecular markers predict for sensitivity
palbociclib
determination method
CIViC evidence level D
rating
CIViC 3-star trust rating
medical condition treated
skin melanoma
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1375
stated in
Loss of CDKN2A expression is a frequent event in primary invasive melanoma and correlates with sensitivity to the CDK4/6 inhibitor PD0332991 in melanoma cell lines
palbociclib
determination method
CIViC evidence level D
rating
CIViC 3-star trust rating
medical condition treated
ovarian cancer
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1377
stated in
Expression of p16 and retinoblastoma determines response to CDK4/6 inhibition in ovarian cancer
palbociclib / letrozole combination therapy
determination method
CIViC evidence level C
rating
CIViC 3-star trust rating
medical condition treated
Her2-receptor negative breast cancer
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1765
stated in
Does CDKN2A loss predict palbociclib benefit?
linsitinib
determination method
CIViC evidence level D
rating
CIViC 2-star trust rating
medical condition treated
Ewing sarcoma
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1879
stated in
Effective molecular targeting of CDK4/6 and IGF-1R in a rare FUS-ERG fusion CDKN2A-deletion doxorubicin-resistant Ewing's sarcoma patient-derived orthotopic xenograft (PDOX) nude-mouse model.
palbociclib
determination method
CIViC evidence level D
rating
CIViC 2-star trust rating
medical condition treated
Ewing sarcoma
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1879
stated in
Effective molecular targeting of CDK4/6 and IGF-1R in a rare FUS-ERG fusion CDKN2A-deletion doxorubicin-resistant Ewing's sarcoma patient-derived orthotopic xenograft (PDOX) nude-mouse model.
palbociclib
determination method
CIViC evidence level D
rating
CIViC 2-star trust rating
medical condition treated
dermatofibrosarcoma protuberans
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1881
stated in
CDKN2A/p16 Loss Implicates CDK4 as a Therapeutic Target in Imatinib-Resistant Dermatofibrosarcoma Protuberans.
negative prognostic predictor for
acute lymphocytic leukemia
determination method
CIViC evidence level B
rating
CIViC 4-star trust rating
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/7986
stated in
Prognostic significance of CDKN2A/B deletions in acute lymphoblastic leukaemia: a meta-analysis
Identifiers
CIViC variant ID
554
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/554
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