MCID: BP1002
MIFTS: 35

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 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

Characteristics:

GeneReviews:

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...

Classifications:



External Ids:

ICD10 33 D83.9
UMLS 73 C3280492

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 skin melanoma 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 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:

26
# 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 9.02 BAP1 BRCA2 MRE11 PALB2 PMS2

MGI Mouse Phenotypes related to Bap1 Tumor Predisposition Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.72 BAP1 BRCA2 MRE11 PALB2 PMS2
2 embryo MP:0005380 9.56 BAP1 BRCA2 MRE11 PALB2
3 mortality/aging MP:0010768 9.55 BAP1 BRCA2 MRE11 PALB2 PMS2
4 neoplasm MP:0002006 9.35 BAP1 BRCA2 MRE11 PALB2 PMS2
5 reproductive system MP:0005389 8.92 BAP1 BRCA2 MRE11 PMS2

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 29 BAP1

Anatomical Context for Bap1 Tumor Predisposition Syndrome

MalaCards organs/tissues related to Bap1 Tumor Predisposition Syndrome:

41
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 top 50) (show all 611)
# 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.1305delG (p.Gln436Asnfs) deletion Pathogenic rs587776877 GRCh38 Chromosome 3, 52403840: 52403840
3 BAP1 NM_004656.3(BAP1): c.2057-2A> G single nucleotide variant Pathogenic rs587776878 GRCh37 Chromosome 3, 52436439: 52436439
4 BAP1 NM_004656.3(BAP1): c.2057-2A> G single nucleotide variant Pathogenic rs587776878 GRCh38 Chromosome 3, 52402423: 52402423
5 BAP1 NM_004656.3(BAP1): c.438-2A> G single nucleotide variant Pathogenic rs587776879 GRCh37 Chromosome 3, 52441334: 52441334
6 BAP1 NM_004656.3(BAP1): c.438-2A> G single nucleotide variant Pathogenic rs587776879 GRCh38 Chromosome 3, 52407318: 52407318
7 BAP1 NM_004656.3(BAP1): c.2050C> T (p.Gln684Ter) single nucleotide variant Pathogenic rs387906848 GRCh37 Chromosome 3, 52436624: 52436624
8 BAP1 NM_004656.3(BAP1): c.2050C> T (p.Gln684Ter) single nucleotide variant Pathogenic rs387906848 GRCh38 Chromosome 3, 52402608: 52402608
9 BAP1 BAP1, 1-BP DEL, 1832C deletion Pathogenic
10 BAP1 BAP1, 4-BP DEL, 2008TCAC deletion Pathogenic
11 BAP1 NM_004656.3(BAP1): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic rs387906849 GRCh37 Chromosome 3, 52439913: 52439913
12 BAP1 NM_004656.3(BAP1): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic rs387906849 GRCh38 Chromosome 3, 52405897: 52405897
13 BRCA2 NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs) deletion Pathogenic rs80359406 GRCh37 Chromosome 13, 32912352: 32912352
14 BRCA2 NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs) deletion Pathogenic rs80359406 GRCh38 Chromosome 13, 32338215: 32338215
15 BRCA2 NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter) indel Pathogenic rs276174859 GRCh37 Chromosome 13, 32914101: 32914102
16 BRCA2 NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter) indel Pathogenic rs276174859 GRCh38 Chromosome 13, 32339964: 32339965
17 BAP1 NM_004656.3(BAP1): c.78_79delGG (p.Val27Alafs) deletion Pathogenic rs397509413 GRCh37 Chromosome 3, 52443613: 52443614
18 BAP1 NM_004656.3(BAP1): c.78_79delGG (p.Val27Alafs) deletion Pathogenic rs397509413 GRCh38 Chromosome 3, 52409597: 52409598
19 BAP1 NM_004656.3(BAP1): c.277A> G (p.Thr93Ala) single nucleotide variant Pathogenic rs375129361 GRCh37 Chromosome 3, 52442072: 52442072
20 BAP1 NM_004656.3(BAP1): c.277A> G (p.Thr93Ala) single nucleotide variant Pathogenic rs375129361 GRCh38 Chromosome 3, 52408056: 52408056
21 BAP1 NM_004656.3(BAP1): c.1654delG (p.Asp552Ilefs) deletion Pathogenic rs397509414 GRCh37 Chromosome 3, 52437507: 52437507
22 BAP1 NM_004656.3(BAP1): c.1654delG (p.Asp552Ilefs) deletion Pathogenic rs397509414 GRCh38 Chromosome 3, 52403491: 52403491
23 MRE11 NM_005591.3(MRE11): c.1960_1979dup20 (p.Lys661Thrfs) duplication Pathogenic/Likely pathogenic rs587781442 GRCh37 Chromosome 11, 94169013: 94169032
24 MRE11 NM_005591.3(MRE11): c.1960_1979dup20 (p.Lys661Thrfs) duplication Pathogenic/Likely pathogenic rs587781442 GRCh38 Chromosome 11, 94435847: 94435866
25 PALB2 NM_024675.3(PALB2): c.226delA (p.Ile76Tyrfs) deletion Pathogenic/Likely pathogenic rs587782443 GRCh37 Chromosome 16, 23647641: 23647641
26 PALB2 NM_024675.3(PALB2): c.226delA (p.Ile76Tyrfs) deletion Pathogenic/Likely pathogenic rs587782443 GRCh38 Chromosome 16, 23636320: 23636320
27 PALB2 NM_024675.3(PALB2): c.2931dupA (p.Val978Serfs) duplication Pathogenic rs587782570 GRCh37 Chromosome 16, 23634355: 23634355
28 PALB2 NM_024675.3(PALB2): c.2931dupA (p.Val978Serfs) duplication Pathogenic rs587782570 GRCh38 Chromosome 16, 23623034: 23623034
29 PMS2 NM_000535.6(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs) deletion Pathogenic rs587782710 GRCh37 Chromosome 7, 6037007: 6037014
30 PMS2 NM_000535.6(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs) deletion Pathogenic rs587782710 GRCh38 Chromosome 7, 5997376: 5997383
31 PTEN NM_000314.6(PTEN): c.527A> G (p.Tyr176Cys) single nucleotide variant Uncertain significance rs757498880 GRCh37 Chromosome 10, 89711909: 89711909
32 PTEN NM_000314.6(PTEN): c.527A> G (p.Tyr176Cys) single nucleotide variant Uncertain significance rs757498880 GRCh38 Chromosome 10, 87952152: 87952152
33 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh37 Chromosome 17, 29550550: 29550550
34 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh38 Chromosome 17, 31223532: 31223532
35 BAP1 NM_004656.3(BAP1): c.1026C> T (p.Ser342=) single nucleotide variant Benign/Likely benign rs71651686 GRCh37 Chromosome 3, 52439216: 52439216
36 BAP1 NM_004656.3(BAP1): c.1026C> T (p.Ser342=) single nucleotide variant Benign/Likely benign rs71651686 GRCh38 Chromosome 3, 52405200: 52405200
37 BAP1 NM_004656.3(BAP1): c.1002A> G (p.Leu334=) single nucleotide variant Benign/Likely benign rs28997577 GRCh37 Chromosome 3, 52439240: 52439240
38 BAP1 NM_004656.3(BAP1): c.1002A> G (p.Leu334=) single nucleotide variant Benign/Likely benign rs28997577 GRCh38 Chromosome 3, 52405224: 52405224
39 BAP1 NM_004656.3(BAP1): c.778C> T (p.Gln260Ter) single nucleotide variant Pathogenic rs864622592 GRCh37 Chromosome 3, 52440274: 52440274
40 BAP1 NM_004656.3(BAP1): c.778C> T (p.Gln260Ter) single nucleotide variant Pathogenic rs864622592 GRCh38 Chromosome 3, 52406258: 52406258
41 BAP1 NM_004656.3(BAP1): c.1717delC (p.Leu573Trpfs) deletion Pathogenic rs869025212 GRCh37 Chromosome 3, 52437444: 52437444
42 BAP1 NM_004656.3(BAP1): c.1717delC (p.Leu573Trpfs) deletion Pathogenic rs869025212 GRCh38 Chromosome 3, 52403428: 52403428
43 BAP1 NM_004656.3(BAP1): c.2091C> T (p.Ser697=) single nucleotide variant Likely benign rs754513396 GRCh38 Chromosome 3, 52402387: 52402387
44 BAP1 NM_004656.3(BAP1): c.2091C> T (p.Ser697=) single nucleotide variant Likely benign rs754513396 GRCh37 Chromosome 3, 52436403: 52436403
45 BAP1 NM_004656.3(BAP1): c.2057-4G> T single nucleotide variant Benign/Likely benign rs149499021 GRCh37 Chromosome 3, 52436441: 52436441
46 BAP1 NM_004656.3(BAP1): c.2057-4G> T single nucleotide variant Benign/Likely benign rs149499021 GRCh38 Chromosome 3, 52402425: 52402425
47 BAP1 NM_004656.3(BAP1): c.1962A> C (p.Val654=) single nucleotide variant Benign/Likely benign rs148624125 GRCh37 Chromosome 3, 52436816: 52436816
48 BAP1 NM_004656.3(BAP1): c.1962A> C (p.Val654=) single nucleotide variant Benign/Likely benign rs148624125 GRCh38 Chromosome 3, 52402800: 52402800
49 BAP1 NM_004656.3(BAP1): c.1946G> A (p.Cys649Tyr) single nucleotide variant Uncertain significance rs151308667 GRCh37 Chromosome 3, 52436832: 52436832
50 BAP1 NM_004656.3(BAP1): c.1946G> A (p.Cys649Tyr) single nucleotide variant Uncertain significance rs151308667 GRCh38 Chromosome 3, 52402816: 52402816

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 9.02 BAP1 BRCA2 MRE11 PALB2 PMS2
2 nuclear chromosome, telomeric region GO:0000784 8.96 BRCA2 MRE11

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 9.62 BRCA2 MRE11 PALB2 PMS2
2 DNA recombination GO:0006310 9.54 BRCA2 MRE11 PALB2
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.48 MRE11 PMS2
4 double-strand break repair GO:0006302 9.46 BRCA2 MRE11
5 DNA repair GO:0006281 9.46 BRCA2 MRE11 PALB2 PMS2
6 chromosome organization GO:0051276 9.43 BRCA2 MRE11
7 double-strand break repair via homologous recombination GO:0000724 9.43 BRCA2 MRE11 PALB2
8 inner cell mass cell proliferation GO:0001833 9.4 BRCA2 PALB2
9 DNA synthesis involved in DNA repair GO:0000731 9.13 BRCA2 MRE11 PALB2
10 strand displacement GO:0000732 8.8 BRCA2 MRE11 PALB2

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.56 BRCA2 MRE11 PALB2 PMS2
2 nuclease activity GO:0004518 9.16 MRE11 PMS2
3 single-stranded DNA binding GO:0003697 8.96 BRCA2 PMS2
4 endonuclease activity GO:0004519 8.62 MRE11 PMS2

Sources for Bap1 Tumor Predisposition Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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