Bap1 Tumor Predisposition Syndrome

Alias:
Bap1 Cancer Syndrome
Common Syndrome
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, and Other Internal Neoplasms
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms
Bap1-Related Tumor Predisposition Syndrome
Tumor Predisposition Syndrome
Bap1-Tpds
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bap1 Tumor Predisposition Syndrome, also known as bap1 cancer syndrome, is related to cholangiocarcinoma and tumor predisposition syndrome 1. An important gene associated with Bap1 Tumor Predisposition Syndrome is BAP1 (BRCA1 Associated Protein 1), and among its related pathways/superpathways are Homology Directed Repair and Homologous DNA Pairing and Strand Exchange. Affiliated tissues include kidney and skin, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Decreased homologous recombination repair frequency
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
--
4
75
88

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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