MCID: BP1002

Bap1 Tumor Predisposition Syndrome

Categories: Cancer diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bap1 Tumor Predisposition Syndrome

MalaCards integrated aliases for Bap1 Tumor Predisposition Syndrome:

Name: Bap1 Tumor Predisposition Syndrome 24 53 25
Tumor Susceptibility Linked to Germline Bap1 Mutations 53 29 6
Bap1-Related Tumor Predisposition Syndrome 53 25
Tumor Predisposition Syndrome 53 73
Bap1 Cancer Syndrome 24 6
Common Syndrome 24 25
Bap1-Tpds 24 25
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, and Other Internal Neoplasms 25
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations,other Internal Neoplasms 24



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...


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ICD10 33 D83.9
UMLS 73 C3280492

Summaries for Bap1 Tumor Predisposition Syndrome

NIH Rare Diseases : 53 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, lung and kidney.

Genetics Home Reference : 25 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

Related Diseases for Bap1 Tumor Predisposition Syndrome

Graphical network of the top 20 diseases related to Bap1 Tumor Predisposition Syndrome:

Diseases related to Bap1 Tumor Predisposition Syndrome

Symptoms & Phenotypes for Bap1 Tumor Predisposition Syndrome

Drugs & Therapeutics for Bap1 Tumor Predisposition Syndrome

Drugs for Bap1 Tumor Predisposition Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
Methylphenidate Approved, Investigational Phase 2 113-45-1 4158
Citalopram Approved Phase 2 59729-33-8 2771
Esmolol Approved Phase 2 103598-03-4, 81147-92-4 59768
5 Peripheral Nervous System Agents Phase 2
6 Neurotransmitter Uptake Inhibitors Phase 2
7 Cholinergic Agents Phase 2
8 Central Nervous System Stimulants Phase 2
9 Cholinergic Antagonists Phase 2
10 Psychotropic Drugs Phase 2,Not Applicable
11 Antiparkinson Agents Phase 2
12 Parasympatholytics Phase 2
13 Antidepressive Agents, Second-Generation Phase 2
14 Dopamine Uptake Inhibitors Phase 2
15 Muscarinic Antagonists Phase 2
16 Neurotransmitter Agents Phase 2
17 Antidepressive Agents Phase 2,Not Applicable
18 Serotonin Uptake Inhibitors Phase 2
19 Serotonin Agents Phase 2
20 Autonomic Agents Phase 2
21 Dopamine Agents Phase 2
22 Adrenergic beta-Antagonists Phase 2
23 Adrenergic beta-1 Receptor Antagonists Phase 2
24 Adrenergic Antagonists Phase 2
25 Adrenergic Agents Phase 2
26 Olive Phase 2
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Not Applicable 53-43-0 5881
29 Adjuvants, Immunologic Not Applicable
30 DHEA (Dehydroepiandrosterone) Not Applicable
31 Immunologic Factors Not Applicable
32 Androgens Not Applicable
33 Natriuretic Agents
34 Natriuretic Peptide, C-Type
35 Anti-Infective Agents
36 Antitubercular Agents
37 Anti-Bacterial Agents
38 Antibiotics, Antitubercular

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 A Controlled Trial of Serotonin Reuptake Inhibitors Added to Stimulant Medication in Youth With Severe Mood Dysregulation Completed NCT00794040 Phase 2 Citalopram;Methylphenidate
2 Esmolol to Control Adrenergic Storm in Septic Shock- ROLL-IN 2 Recruiting NCT03208257 Phase 2 Esmolol
3 The Effect of Cannabis on Dementia Related Agitation and Aggression Recruiting NCT03328676 Phase 2 Cannabis;Placebo oil
4 Dehydroepiandrosterone (DHEA) Treatment in Women and Men Experiencing Hypoactive Sexual Desire Disorder Unknown status NCT00916396 Not Applicable Dehydroepiandrosterone;placebo
5 Exercise Training Effects in Patients With Heart Failure Unknown status NCT01071629 Not Applicable
6 Effects of a Moisturizing Product on Dry Eye and Skin Completed NCT02683382 Not Applicable
7 A Study to Assess Benign Joint Hypermobility Syndrome in Children With a History of Wheezing or Asthma Completed NCT02163096
8 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
9 Brain Mechanisms Underlying Reading Improvement in Central Alexia Completed NCT02062619 Not Applicable
10 Tumor and Development (TED) Recruiting NCT01915797
11 Metabolism, Muscle Function and Psychological Factors in Fibromyalgia Recruiting NCT03300635 Not Applicable
12 Transcranial Magnetic Stimulation and Hyperbaric Chamber for Women Fibromyalgia Recruiting NCT03801109 Not Applicable
13 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
14 Validating Pain Scales in Children and Young Adults Recruiting NCT01639950
15 Effect of Emergency Department Care Reorganization on Door-to-antibiotic Times for Sepsis (LDS SWARM) Active, not recruiting NCT03226366
16 Can Acupuncture Treat Post-stroke Depression? Active, not recruiting NCT02644161 Not Applicable Antidepressant
17 Natural History and Biospecimen Acquisition for Children and Adults With Rare Solid Tumors Not yet recruiting NCT03739827
18 Metabolic and Structural Characterization of Hub's Vulnerability in Neurological Diseases Assessed by Ultra High Field Structural and Functional MRI Not yet recruiting NCT03039166 Not Applicable

Search NIH Clinical Center for Bap1 Tumor Predisposition Syndrome

Genetic Tests for Bap1 Tumor Predisposition Syndrome

Genetic tests related to Bap1 Tumor Predisposition Syndrome:

# Genetic test Affiliating Genes
1 Tumor Susceptibility Linked to Germline Bap1 Mutations 29 BAP1

Anatomical Context for Bap1 Tumor Predisposition Syndrome

MalaCards organs/tissues related to Bap1 Tumor Predisposition Syndrome:

Skin, Lung, Kidney, Eye, Testes

Publications for Bap1 Tumor Predisposition Syndrome

Articles related to Bap1 Tumor Predisposition Syndrome:

# Title Authors Year
Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome. ( 29061454 )
Analysis of the Exome Aggregation Consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients. ( 29761599 )
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. ( 26096145 )
The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment. ( 24855403 )
BAP1 Tumor Predisposition Syndrome ( 27748099 )

Variations for Bap1 Tumor Predisposition Syndrome

ClinVar genetic disease variations for Bap1 Tumor Predisposition Syndrome:

# Gene Variation Type Significance SNP ID Assembly Location
1 BAP1 NM_004656.3(BAP1): c.1717delC (p.Leu573Trpfs) deletion Pathogenic rs869025212 GRCh37 Chromosome 3, 52437444: 52437444
2 BAP1 NM_004656.3(BAP1): c.1717delC (p.Leu573Trpfs) deletion Pathogenic rs869025212 GRCh38 Chromosome 3, 52403428: 52403428

Cosmic variations for Bap1 Tumor Predisposition Syndrome:

9 (show top 50) (show all 1167)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM44126 TP53 skin,eye,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 5
2 COSM43583 TP53 skin,eye,carcinoma,basal cell carcinoma c.425C>T p.P142L 17:7675187-7675187 5
3 COSM17475 PTCH1 skin,chest,carcinoma,basal cell carcinoma c.1292T>A p.L431Q 9:95478110-95478110 5
4 COSM17477 PTCH1 skin,chest,carcinoma,basal cell carcinoma c.3487G>A p.G1163S 9:95449903-95449903 5
5 COSM17474 PTCH1 skin,chest,carcinoma,basal cell carcinoma c.2062C>T p.Q688* 9:95468939-95468939 5
6 COSM17472 PTCH1 skin,chest,carcinoma,basal cell carcinoma c.1249C>T p.Q417* 9:95478153-95478153 5
7 COSM144245 PTCH1 skin,eye,carcinoma,basal cell carcinoma c.1585A>T p.K529* 9:95476776-95476776 5
8 COSM17459 PTCH1 skin,chest,carcinoma,basal cell carcinoma c.2042C>T p.P681L 9:95468959-95468959 5
9 COSM564 NRAS skin,chest,carcinoma,basal cell carcinoma c.35G>A p.G12D 1:114716126-114716126 5
10 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 4
11 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 4
12 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 4
13 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 4
14 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 4
15 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 4
16 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 4
17 COSM6982918 YES1 skin,eye,carcinoma,NS c.851G>A p.G284E 18:743289-743289 4
18 COSM5611208 YAP1 skin,chest,malignant melanoma,NS c.1205G>A p.G402E 11:102229792-102229792 4
19 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 4
20 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 4
21 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 4
22 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 4
23 COSM4736805 TSC1 skin,eye,carcinoma,NS c.2065C>T p.R689C 9:132903794-132903794 4
24 COSM107494 TRRAP skin,chest,malignant melanoma,NS c.2165C>T p.S722F 7:98912179-98912179 4
25 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 4
26 COSM6971614 TRAF7 skin,eye,carcinoma,NS c.349G>A p.E117K 16:2171264-2171264 4
27 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 4
28 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 4
29 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 4
30 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 17:7674215-7674215 4
31 COSM45074 TP53 skin,NS,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 4
32 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 4
33 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 4
34 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 4
35 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 17:7674866-7674866 4
36 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 4
37 COSM43778 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 4
38 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 4
39 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 4
40 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 4
41 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 4
42 COSM45774 TP53 skin,NS,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 4
43 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 4
44 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 4
45 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 4
46 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 4
47 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 4
48 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 4
49 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 4
50 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 4

Expression for Bap1 Tumor Predisposition Syndrome

Search GEO for disease gene expression data for Bap1 Tumor Predisposition Syndrome.

Pathways for Bap1 Tumor Predisposition Syndrome

GO Terms for Bap1 Tumor Predisposition Syndrome

Sources for Bap1 Tumor Predisposition Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
70 SNOMED-CT via Orphanet
72 Tocris
74 UMLS via Orphanet
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