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MCID: BP1002
MIFTS: 29
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Bap1 Tumor Predisposition Syndrome
Categories:
Cancer diseases, Immune diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Bap1 Tumor Predisposition Syndrome:
Characteristics:GeneReviews:25
Penetrance
The penetrance of the bap1-tpds appears to be high based on the published literature. in their review rai et al [2016] found that 148/174 (85%) individuals reported with a heterozygous germline bap1 pathogenic variant had a cancer diagnosis. however, ascertainment biases in favor of both testing and reporting affected versus unaffected individuals may have inflated this figure. for example, in more than half of the reported families only the proband had been tested. given these biases, an accurate estimate of penetrance cannot be determined at this time...
Classifications:
MalaCards categories:
Global: Rare diseases Cancer diseases Anatomical: Immune diseases Skin diseases
ICD10:
34
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NIH Rare Diseases
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54
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 289539Disease definitionBAP1-related tumor predisposition syndrome (TPDS) is an inheritedcancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.Visit the Orphanet disease page for more resources.
MalaCards based summary : Bap1 Tumor Predisposition Syndrome, also known as tumor susceptibility linked to germline bap1 mutations, is related to rhabdoid tumor predisposition syndrome 1 and rhabdoid tumor predisposition syndrome 2. An important gene associated with Bap1 Tumor Predisposition Syndrome is BAP1 (BRCA1 Associated Protein 1). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and lung. Genetics Home Reference : 26 BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types.
GeneReviews:
NBK390611
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Drugs for Bap1 Tumor Predisposition Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 40)
Interventional clinical trials:(show all 18)
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MalaCards organs/tissues related to Bap1 Tumor Predisposition Syndrome:42
Skin,
Eye,
Lung,
Kidney,
Breast,
Brain,
Heart
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Articles related to Bap1 Tumor Predisposition Syndrome:
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Genes related to Bap1 Tumor Predisposition Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Bap1 Tumor Predisposition Syndrome:6
Cosmic variations for Bap1 Tumor Predisposition Syndrome:9 (show top 50) (show all 1185)
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Search
GEO
for disease gene expression data for Bap1 Tumor Predisposition Syndrome.
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