MCID: BP1002
MIFTS: 37

Bap1 Tumor Predisposition Syndrome

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

Aliases & Classifications for Bap1 Tumor Predisposition Syndrome

MalaCards integrated aliases for Bap1 Tumor Predisposition Syndrome:

Name: Bap1 Tumor Predisposition Syndrome 23 50 25
Tumor Susceptibility Linked to Germline Bap1 Mutations 50 29
Bap1-Related Tumor Predisposition Syndrome 50 25
Tumor Predisposition Syndrome 50 69
Common Syndrome 23 25
Bap1-Tpds 23 25
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, and Other Internal Neoplasms 25
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations,other Internal Neoplasms 23
Bap1 Cancer Syndrome 23

Characteristics:

GeneReviews:

23
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:



External Ids:

ICD10 33 D83.9

Summaries for Bap1 Tumor Predisposition Syndrome

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.

MalaCards based summary : Bap1 Tumor Predisposition Syndrome, also known as tumor susceptibility linked to germline bap1 mutations, is related to pendred syndrome and tumor predisposition syndrome. An important gene associated with Bap1 Tumor Predisposition Syndrome is BAP1 (BRCA1 Associated Protein 1), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Homologous DNA Pairing and Strand Exchange. Affiliated tissues include skin, kidney and eye, and related phenotypes are Decreased homologous recombination repair frequency and cellular

GeneReviews: NBK390611

Related Diseases for Bap1 Tumor Predisposition Syndrome

Diseases related to Bap1 Tumor Predisposition Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
id Related Disease Score Top Affiliating Genes
1 pendred syndrome 10.3
2 tumor predisposition syndrome 10.1
3 primitive neuroectodermal tumor of the corpus uteri 9.9 BRCA1 BRCA2
4 bronchopulmonary dysplasia 9.9 BRCA1 BRCA2
5 cutaneous lupus erythematosus 9.9 BRCA1 BRCA2
6 autoimmune disease of blood 9.9 BRCA1 BRCA2
7 selective immunoglobulin deficiency disease 9.9 BRCA1 BRCA2
8 pancreatic cancer 4 9.9 BRCA1 BRCA2
9 endocervicitis 9.9 BRCA1 BRCA2
10 facial hemiatrophy 9.9 BAP1 BRCA2
11 breast pericanalicular fibroadenoma 9.9 BRCA1 BRCA2
12 extracranial neuroblastoma 9.9 BRCA1 BRCA2
13 chest wall lymphoma 9.9 BRCA1 BRCA2
14 retinal detachment 9.9 BRCA1 BRCA2
15 chronic frontal sinusitis 9.9 BRCA1 BRCA2
16 ovarian endometrioid adenofibroma 9.9 BRCA1 BRCA2
17 pediatric cns embryonal cell carcinoma 9.9 BRCA2 PMS2
18 mediastinum synovial sarcoma 9.8 BRCA1 BRCA2
19 distal monosomy 7q36 9.8 BRCA1 BRCA2
20 nasal cavity squamous cell carcinoma 9.8 BRCA1 BRCA2
21 mycetoma 9.8 BRCA1 BRCA2
22 ductal carcinoma in situ 9.8 BRCA1 BRCA2
23 syndromic x-linked intellectual disability 14 9.8 BRCA1 BRCA2
24 fallopian tube carcinosarcoma 9.8 BRCA1 BRCA2
25 dental caries 9.8 BRCA1 BRCA2
26 nasal cavity disease 9.7 BRCA1 BRCA2
27 melanoma 9.7
28 trachea carcinoma in situ 9.7 BRCA1 BRCA2
29 childhood ovarian embryonal carcinoma 9.7 BRCA1 BRCA2
30 estrogen-receptor negative breast cancer 9.7 BRCA1 BRCA2
31 mixed cerebral palsy 9.6 BRCA2 PALB2
32 viral encephalitis 9.6 BRCA1 BRCA2
33 nasopharyngeal carcinoma 9.5 BRCA1 BRCA2
34 eccrine sweat gland neoplasm 9.5 BAP1 BRCA1 BRCA2
35 cataract 27, nuclear progressive 9.4 BRCA1 BRCA2 PMS2
36 bardet-biedl syndrome 9.4 BRCA1 BRCA2
37 trachea squamous cell carcinoma 9.4 BRCA1 BRCA2 PMS2
38 apocrine adenoma 9.4 BRCA1 BRCA2 PMS2
39 brenner tumor of the vagina 9.3 BRCA1 BRCA2 PALB2
40 brenner tumor of ovary 9.3 BRCA1 BRCA2 PALB2
41 amyloid tumor 9.3 BRCA1 BRCA2 PALB2
42 cellular myxoid liposarcoma 9.3 BRCA1 BRCA2 PALB2
43 mental retardation, autosomal recessive 45 9.3 BRCA1 BRCA2 PALB2
44 orthostatic intolerance 9.2
45 esophagitis 9.2
46 megaloblastic anemia 9.2
47 peptic esophagitis 9.2
48 epilepsy 9.2
49 idiopathic generalized epilepsy 9.2
50 central nervous system disease 9.2

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

GenomeRNAi Phenotypes related to Bap1 Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.36 BRCA1
2 Decreased homologous recombination repair frequency GR00151-A-2 10.36 BRCA1
3 Decreased homologous recombination repair frequency GR00236-A-1 10.36 BRCA2 PALB2 BRCA1
4 Decreased homologous recombination repair frequency GR00236-A-2 10.36 BRCA2 PALB2 BRCA1
5 Decreased homologous recombination repair frequency GR00236-A-3 10.36 BRCA1 BRCA2 PALB2
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.35 BAP1 BRCA1 BRCA2 PALB2 PMS2
7 Decreased viability after ionizing radiation GR00232-A-2 9.26 BRCA1 BRCA2
8 Decreased viability with cisplatin GR00101-A-4 9.16 BRCA1 BRCA2
9 Synthetic lethal with cisplatin GR00101-A-1 8.62 BRCA1 BRCA2

MGI Mouse Phenotypes related to Bap1 Tumor Predisposition Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 BAP1 BRCA1 BRCA2 PALB2 PMS2
2 digestive/alimentary MP:0005381 9.67 PMS2 BAP1 BRCA1 BRCA2
3 embryo MP:0005380 9.62 BAP1 BRCA1 BRCA2 PALB2
4 endocrine/exocrine gland MP:0005379 9.56 BAP1 BRCA1 BRCA2 PMS2
5 integument MP:0010771 9.46 BAP1 BRCA1 BRCA2 PALB2
6 neoplasm MP:0002006 9.35 BAP1 BRCA1 BRCA2 PALB2 PMS2
7 reproductive system MP:0005389 8.92 BAP1 BRCA1 BRCA2 PMS2

Drugs & Therapeutics for Bap1 Tumor Predisposition Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Tumor and Development (TED) Recruiting NCT01915797
2 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
3 Clinical and Histopathologic Characteristics of BAP1 Mutations Recruiting NCT01773655

Search NIH Clinical Center for Bap1 Tumor Predisposition Syndrome

Genetic Tests for Bap1 Tumor Predisposition Syndrome

Genetic tests related to Bap1 Tumor Predisposition Syndrome:

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

Anatomical Context for Bap1 Tumor Predisposition Syndrome

MalaCards organs/tissues related to Bap1 Tumor Predisposition Syndrome:

39
Skin, Kidney, Eye, Testes

Publications for Bap1 Tumor Predisposition Syndrome

Articles related to Bap1 Tumor Predisposition Syndrome:

id Title Authors Year
1
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. ( 26096145 )
2015
2
The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment. ( 24855403 )
2014
3
BAP1 Tumor Predisposition Syndrome ( 27748099 )
1993

Variations for Bap1 Tumor Predisposition Syndrome

ClinVar genetic disease variations for Bap1 Tumor Predisposition Syndrome:

6 (show all 32)
id Gene Variation Type Significance SNP ID Assembly Location
1 BAP1 NM_004656.3(BAP1): c.1305delG (p.Gln436Asnfs) deletion Pathogenic rs587776877 GRCh37 Chromosome 3, 52437856: 52437856
2 BAP1 NM_004656.3(BAP1): c.2057-2A> G single nucleotide variant Pathogenic rs587776878 GRCh37 Chromosome 3, 52436439: 52436439
3 BAP1 NM_004656.3(BAP1): c.438-2A> G single nucleotide variant Pathogenic rs587776879 GRCh37 Chromosome 3, 52441334: 52441334
4 BAP1 NM_004656.3(BAP1): c.2050C> T (p.Gln684Ter) single nucleotide variant Pathogenic rs387906848 GRCh37 Chromosome 3, 52436624: 52436624
5 BAP1 BAP1, 1-BP DEL, 1832C deletion Pathogenic
6 BAP1 BAP1, 4-BP DEL, 2008TCAC deletion Pathogenic
7 BAP1 NM_004656.3(BAP1): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic rs387906849 GRCh37 Chromosome 3, 52439913: 52439913
8 BRCA2 NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs) deletion Pathogenic rs80359406 GRCh37 Chromosome 13, 32912352: 32912352
9 BRCA2 NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter) indel Pathogenic rs276174859 GRCh37 Chromosome 13, 32914101: 32914102
10 BRCA1 NM_007294.3(BRCA1): c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs) indel Pathogenic rs273900717 GRCh37 Chromosome 17, 41243705: 41243709
11 BAP1 NM_004656.3(BAP1): c.78_79delGG (p.Val27Alafs) deletion Pathogenic rs397509413 GRCh37 Chromosome 3, 52443613: 52443614
12 BAP1 NM_004656.3(BAP1): c.277A> G (p.Thr93Ala) single nucleotide variant Pathogenic rs375129361 GRCh37 Chromosome 3, 52442072: 52442072
13 BAP1 NM_004656.3(BAP1): c.1654delG (p.Asp552Ilefs) deletion Pathogenic rs397509414 GRCh37 Chromosome 3, 52437507: 52437507
14 BRCA2 NM_000059.3(BRCA2): c.9945delA (p.Glu3316Asnfs) deletion Pathogenic rs431825381 GRCh37 Chromosome 13, 32972595: 32972595
15 MRE11 NM_005591.3(MRE11): c.1960_1979dup20 (p.Lys661Thrfs) duplication Pathogenic/Likely pathogenic rs587781442 GRCh38 Chromosome 11, 94435847: 94435866
16 PALB2 NM_024675.3(PALB2): c.226delA (p.Ile76Tyrfs) deletion Pathogenic/Likely pathogenic rs587782443 GRCh38 Chromosome 16, 23636320: 23636320
17 PALB2 NM_024675.3(PALB2): c.2931dupA (p.Val978Serfs) duplication Pathogenic rs587782570 GRCh37 Chromosome 16, 23634355: 23634355
18 PMS2 NM_000535.6(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs) deletion Pathogenic rs587782710 GRCh37 Chromosome 7, 6037007: 6037014
19 BAP1 NM_004656.3(BAP1): c.778C> T (p.Gln260Ter) single nucleotide variant Pathogenic rs864622592 GRCh37 Chromosome 3, 52440274: 52440274
20 BAP1 NM_004656.3(BAP1): c.1717delC (p.Leu573Trpfs) deletion Pathogenic rs869025212 GRCh37 Chromosome 3, 52437444: 52437444
21 BRCA2 NM_000059.3(BRCA2): c.7762_7764delATAinsTT (p.Ile2588Phefs) indel Pathogenic rs483353072 GRCh37 Chromosome 13, 32932023: 32932025
22 BAP1 NM_004656.3(BAP1): c.1835delA (p.Lys612Argfs) deletion Pathogenic rs1060503743 GRCh38 Chromosome 3, 52403193: 52403193
23 BAP1 NM_004656.3(BAP1): c.1416delG (p.Ser473Valfs) deletion Pathogenic rs1060503731 GRCh38 Chromosome 3, 52403729: 52403729
24 BAP1 NM_004656.3(BAP1): c.519T> G (p.Tyr173Ter) single nucleotide variant Pathogenic rs143901408 GRCh38 Chromosome 3, 52407235: 52407235
25 BAP1 NM_004656.3(BAP1): c.517dupT (p.Tyr173Leufs) duplication Pathogenic GRCh38 Chromosome 3, 52407237: 52407237
26 BAP1 NM_004656.3(BAP1): c.510dupT (p.Val171Cysfs) duplication Pathogenic GRCh38 Chromosome 3, 52407244: 52407244
27 BAP1 NM_004656.3(BAP1): c.181A> T (p.Lys61Ter) single nucleotide variant Pathogenic rs1060503744 GRCh38 Chromosome 3, 52408548: 52408548
28 BAP1 NM_004656.3(BAP1): c.65delT (p.Phe22Serfs) deletion Pathogenic rs1060503735 GRCh38 Chromosome 3, 52409716: 52409716
29 BAP1 NM_004656.3(BAP1): c.644delG (p.Gly215Alafs) deletion Pathogenic rs1060503727 GRCh38 Chromosome 3, 52406844: 52406844
30 BAP1 NM_004656.3(BAP1): c.544G> T (p.Glu182Ter) single nucleotide variant Pathogenic rs1060503726 GRCh38 Chromosome 3, 52407210: 52407210
31 BAP1 NM_004656.3(BAP1): c.1185dupA (p.Asp396Argfs) duplication Pathogenic GRCh38 Chromosome 3, 52404518: 52404518
32 BAP1 NM_004656.3(BAP1): c.1358_1359delAA (p.Lys453Argfs) deletion Pathogenic GRCh37 Chromosome 3, 52437802: 52437803

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

Cellular components related to Bap1 Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.35 BAP1 BRCA1 BRCA2 PALB2 PMS2
2 lateral element GO:0000800 8.62 BRCA1 BRCA2

Biological processes related to Bap1 Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.67 BRCA1 BRCA2 PALB2 PMS2
2 DNA recombination GO:0006310 9.58 BRCA1 BRCA2 PALB2
3 DNA repair GO:0006281 9.56 BRCA1 BRCA2 PALB2 PMS2
4 double-strand break repair via homologous recombination GO:0000724 9.5 BRCA1 BRCA2 PALB2
5 double-strand break repair GO:0006302 9.49 BRCA1 BRCA2
6 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.48 BRCA1 BRCA2
7 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.46 BRCA1 BRCA2
8 inner cell mass cell proliferation GO:0001833 9.43 BRCA2 PALB2
9 chordate embryonic development GO:0043009 9.16 BRCA1 BRCA2
10 DNA synthesis involved in DNA repair GO:0000731 9.13 BRCA1 BRCA2 PALB2
11 strand displacement GO:0000732 8.8 BRCA1 BRCA2 PALB2

Molecular functions related to Bap1 Tumor Predisposition Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 single-stranded DNA binding GO:0003697 8.62 BRCA2 PMS2

Sources for Bap1 Tumor Predisposition Syndrome

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