MCID: BP1002
MIFTS: 33

Bap1 Tumor Predisposition Syndrome

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

Aliases & Classifications for Bap1 Tumor Predisposition Syndrome

MalaCards integrated aliases for Bap1 Tumor Predisposition Syndrome:

Name: Bap1 Tumor Predisposition Syndrome 23 49 24
Tumor Susceptibility Linked to Germline Bap1 Mutations 49 28
Bap1-Related Tumor Predisposition Syndrome 49 24
Tumor Predisposition Syndrome 49 69
Common Syndrome 23 24
Bap1-Tpds 23 24
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, and Other Internal Neoplasms 24
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 32 D83.9
UMLS 69 C3280492

Summaries for Bap1 Tumor Predisposition Syndrome

Genetics Home Reference : 24 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 tumor predisposition syndrome and pendred 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 Decreased homologous recombination repair frequency

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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 9.43 BRCA2 PALB2
2 Decreased homologous recombination repair frequency GR00236-A-2 9.43 BRCA2 PALB2
3 Decreased homologous recombination repair frequency GR00236-A-3 9.43 BRCA2 PALB2
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.92 PALB2 PMS2 BAP1 BRCA2

MGI Mouse Phenotypes related to Bap1 Tumor Predisposition Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.46 BRCA2 PALB2 PMS2 BAP1
2 digestive/alimentary MP:0005381 9.13 BAP1 BRCA2 PMS2
3 neoplasm MP:0002006 8.92 BRCA2 PALB2 PMS2 BAP1

Drugs & Therapeutics for Bap1 Tumor Predisposition Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tumor and Development (TED) Recruiting NCT01915797
2 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

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 28 BAP1

Anatomical Context for Bap1 Tumor Predisposition Syndrome

MalaCards organs/tissues related to Bap1 Tumor Predisposition Syndrome:

38
Skin, Kidney, Eye, Testes

Publications for Bap1 Tumor Predisposition Syndrome

Articles related to Bap1 Tumor Predisposition Syndrome:

# Title Authors Year
1
Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome. ( 29061454 )
2018
2
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. ( 26096145 )
2015
3
The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment. ( 24855403 )
2014
4
BAP1 Tumor Predisposition Syndrome ( 27748099 )
1993

Variations for Bap1 Tumor Predisposition Syndrome

ClinVar genetic disease variations for Bap1 Tumor Predisposition Syndrome:

6 (show all 34)
# 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 BAP1 NM_004656.3(BAP1): c.78_79delGG (p.Val27Alafs) deletion Pathogenic rs397509413 GRCh37 Chromosome 3, 52443613: 52443614
11 BAP1 NM_004656.3(BAP1): c.277A> G (p.Thr93Ala) single nucleotide variant Pathogenic rs375129361 GRCh37 Chromosome 3, 52442072: 52442072
12 BAP1 NM_004656.3(BAP1): c.1654delG (p.Asp552Ilefs) deletion Pathogenic rs397509414 GRCh37 Chromosome 3, 52437507: 52437507
13 MRE11 NM_005591.3(MRE11): c.1960_1979dup20 (p.Lys661Thrfs) duplication Pathogenic/Likely pathogenic rs587781442 GRCh38 Chromosome 11, 94435847: 94435866
14 PALB2 NM_024675.3(PALB2): c.226delA (p.Ile76Tyrfs) deletion Pathogenic/Likely pathogenic rs587782443 GRCh37 Chromosome 16, 23647641: 23647641
15 PALB2 NM_024675.3(PALB2): c.2931dupA (p.Val978Serfs) duplication Pathogenic rs587782570 GRCh37 Chromosome 16, 23634355: 23634355
16 PMS2 NM_000535.6(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs) deletion Pathogenic rs587782710 GRCh37 Chromosome 7, 6037007: 6037014
17 BAP1 NM_004656.3(BAP1): c.778C> T (p.Gln260Ter) single nucleotide variant Pathogenic rs864622592 GRCh37 Chromosome 3, 52440274: 52440274
18 BAP1 NM_004656.3(BAP1): c.1717delC (p.Leu573Trpfs) deletion Pathogenic rs869025212 GRCh37 Chromosome 3, 52437444: 52437444
19 BAP1 NM_004656.3(BAP1): c.1835delA (p.Lys612Argfs) deletion Pathogenic rs1060503743 GRCh38 Chromosome 3, 52403193: 52403193
20 BAP1 NM_004656.3(BAP1): c.1416delG (p.Ser473Valfs) deletion Pathogenic rs1060503731 GRCh38 Chromosome 3, 52403729: 52403729
21 BAP1 NM_004656.3(BAP1): c.519T> G (p.Tyr173Ter) single nucleotide variant Pathogenic rs143901408 GRCh38 Chromosome 3, 52407235: 52407235
22 BAP1 NM_004656.3(BAP1): c.517dupT (p.Tyr173Leufs) duplication Pathogenic GRCh38 Chromosome 3, 52407237: 52407237
23 BAP1 NM_004656.3(BAP1): c.510dupT (p.Val171Cysfs) duplication Pathogenic GRCh38 Chromosome 3, 52407244: 52407244
24 BAP1 NM_004656.3(BAP1): c.181A> T (p.Lys61Ter) single nucleotide variant Pathogenic rs1060503744 GRCh38 Chromosome 3, 52408548: 52408548
25 BAP1 NM_004656.3(BAP1): c.65delT (p.Phe22Serfs) deletion Pathogenic rs1060503735 GRCh38 Chromosome 3, 52409716: 52409716
26 BAP1 NM_004656.3(BAP1): c.644delG (p.Gly215Alafs) deletion Pathogenic rs1060503727 GRCh38 Chromosome 3, 52406844: 52406844
27 BAP1 NM_004656.3(BAP1): c.544G> T (p.Glu182Ter) single nucleotide variant Pathogenic rs1060503726 GRCh38 Chromosome 3, 52407210: 52407210
28 BAP1 NM_004656.3(BAP1): c.1185dupA (p.Asp396Argfs) duplication Pathogenic GRCh38 Chromosome 3, 52404518: 52404518
29 BAP1 NM_004656.3(BAP1): c.1358_1359delAA (p.Lys453Argfs) deletion Pathogenic GRCh37 Chromosome 3, 52437802: 52437803
30 BAP1 NC_000003.11: g.(?_52436298)_(52443900_?)del deletion Pathogenic GRCh37 Chromosome 3, 52436298: 52443900
31 BAP1 NM_004656.3(BAP1): c.757C> T (p.Gln253Ter) single nucleotide variant Pathogenic rs776240891 GRCh38 Chromosome 3, 52406279: 52406279
32 BAP1 NM_004656.3(BAP1): c.758dup (p.Thr254Aspfs) duplication Pathogenic GRCh37 Chromosome 3, 52440294: 52440294
33 BAP1 NM_004656.3(BAP1): c.587G> A (p.Trp196Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 52406901: 52406901
34 BAP1 NM_004656.3(BAP1): c.1379C> A (p.Ser460Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 52403766: 52403766

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:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 8.92 BAP1 BRCA2 PALB2 PMS2

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.5 BRCA2 PALB2 PMS2
2 DNA repair GO:0006281 9.43 BRCA2 PALB2 PMS2
3 DNA recombination GO:0006310 9.4 BRCA2 PALB2
4 double-strand break repair via homologous recombination GO:0000724 9.37 BRCA2 PALB2
5 DNA synthesis involved in DNA repair GO:0000731 9.16 BRCA2 PALB2
6 strand displacement GO:0000732 8.96 BRCA2 PALB2
7 inner cell mass cell proliferation GO:0001833 8.62 BRCA2 PALB2

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

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

Sources for Bap1 Tumor Predisposition Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....