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RB1 R320*
GeneRB1
Variantnonsense
Amino Acid ChangeR320*
Transcript ID (GRCh37/hg19)ENST00000267163
Codon320
Exon10
Genomic Coordinates (GRCh37/hg19)13:48941648-48941648
COSMIC ID891
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 2
RB1
Variants
RB1 R320*
Primary Sites
Liver
Tumor Types
Adenocarcinoma
Interpretation

The protein encoded by the RB1 gene is a negative regulator of the cell cycle and was the first tumor suppressor gene identified. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Inactivation of RB1 and loss of RB1 tumor suppressor function has been identified in approximately 5% of hepatocellular carcinoma and is rare (<1%) in cholangiocarcinoma. RB1 R320* results in early truncation of the RB1 protein and presumably loss of function. The predictive and prognostic significance of RB1 mutations in adenocarcinoma of the liver is undergoing further investigation. It has been suggested that patients with RB1-deficient tumors do not respond to cyclin-dependent kinase (CDK) inhibitors; however, the clinical implication of the loss of a single copy of RB1, as in this patient's case, remains to be fully elucidated. These results should be interpreted in the clinical context.

Last updated: 2018-06-13 19:17:41 UTC
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Tier 2
RB1
Variants
RB1 R320*
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Squamous Cell Carcinoma
Non-Small Cell Lung Carcinoma
Interpretation

The protein encoded by the RB1 gene is a negative regulator of the cell cycle and was the first tumor suppressor gene identified. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Inactivation of RB1 and loss of RB1 tumor suppressor function has been identified in many early stage cancers. RB1 alterations are found in approximately 8% of non-small cell lung cancers. RB1 S576fs*34 results in early truncation of the RB1 protein and presumably loss of function. The predictive and prognostic significance of RB1 mutations in lung non-small cell carcinoma is undergoing further investigation. It has been suggested that patients with RB1-deficient tumors do not respond to cyclin-dependent kinase (CDK) inhibitors; however, the clinical implication of the loss of a single copy of RB1, as in this patient's case, remains to be fully elucidated. These results should be interpreted in the clinical context.

Last updated: 2019-01-22 19:25:15 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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