Bap1 Tumor Predisposition Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BP1002 MIFTS: 42	Bap1 Tumor Predisposition Syndrome Categories: Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Bap1 Tumor Predisposition Syndrome

MalaCards integrated aliases for Bap1 Tumor Predisposition Syndrome:

Name: Bap1 Tumor Predisposition Syndrome ²⁵ ²⁰ ⁴³ ²⁹

Common Syndrome ²⁵ ²⁰ ⁴³ ²⁹

Tumor Susceptibility Linked to Germline Bap1 Mutations ²⁰ ²⁹ ⁶

Bap1 Cancer Syndrome ²⁵ ²⁹ ⁶

Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, and Other Internal Neoplasms ²⁰ ⁴³

Bap1-Related Tumor Predisposition Syndrome ²⁰ ⁴³

Tumor Predisposition Syndrome ²⁰ ⁷⁰

Bap1-Tpds ²⁰ ⁴³

Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms ²⁵

Characteristics:

GeneReviews:

²⁵

Penetrance The penetrance of the bap1-tpds appears to be high based on the published literature, with 88% of probands and 82.5% of relatives with a heterozygous germline bap1 pathogenic variant having 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. also, the majority of the study participants were ascertained based on their strong family history of cancer. given these biases, an accurate estimate of penetrance cannot be determined at this time. in attempting to adjust for this, walpole et al [2018] found a significantly lower prevalence of bap1-related tumors in affected relatives compared to probands (see prevalence).

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷⁰ C3280492

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Summaries for Bap1 Tumor Predisposition Syndrome

MedlinePlus Genetics : ⁴³ 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.Some people with BAP1 tumor predisposition syndrome develop growths in the skin known as atypical Spitz tumors. People with this syndrome may have more than one of these tumors, and they can have dozens. Atypical Spitz tumors are generally considered benign, although it is unclear if they can become cancerous. Skin cancers are also associated with BAP1 tumor predisposition syndrome, including cutaneous melanoma and basal cell carcinoma.A type of eye cancer called uveal melanoma is the most common cancerous tumor in BAP1 tumor predisposition syndrome. Although uveal melanoma does not usually cause any symptoms, some people with this type of cancer have blurred vision; small, moving dots (floaters) or flashes of light in their vision; headaches; or a visible dark spot on the eye.People with BAP1 tumor predisposition syndrome are at risk of developing malignant mesothelioma, which is cancer of the mesothelium. When associated with BAP1 tumor predisposition syndrome, malignant mesothelioma most often occurs in the membrane that lines the abdomen and covers the abdominal organs (the peritoneum). It less commonly occurs in the outer covering of the lungs (the pleura).A form of kidney cancer called clear cell renal cell carcinoma is also associated with the condition. Researchers are still determining whether other forms of cancer are linked to BAP1 tumor predisposition syndrome.When they occur in people with BAP1 tumor predisposition syndrome, cancers tend to arise at a younger age and are often more aggressive than cancers in the general population. The cancerous tumors in BAP1 tumor predisposition syndrome tend to spread (metastasize) to other parts of the body. Survival of affected individuals with this syndrome is usually shorter than in other people who have one of these cancers. However, individuals with malignant mesothelioma as part of the BAP1 tumor predisposition syndrome appear to survive longer than those who have the cancer without the syndrome.

MalaCards based summary : Bap1 Tumor Predisposition Syndrome, also known as common syndrome, is related to medulloblastoma and atypical teratoid rhabdoid tumor. 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 eye, breast and ovary, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 289539 Definition BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer -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.

GeneReviews: NBK390611

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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 116)

#	Related Disease	Score	Top Affiliating Genes
1	medulloblastoma	28.8	PALB2 BRCA2 BAP1
2	atypical teratoid rhabdoid tumor	11.7
3	rhabdoid tumor predisposition syndrome 2	11.7
4	rhabdoid tumor predisposition syndrome 1	11.7
5	rhabdoid cancer	11.5
6	paragangliomas 6	11.2
7	paragangliomas 7	11.2
8	dicer1 tumor predisposition	11.2
9	fh tumor predisposition syndrome	11.1
10	pleuropulmonary blastoma	11.1
11	diaphyseal medullary stenosis with malignant fibrous histiocytoma	11.0
12	hereditary leiomyomatosis and renal cell cancer	11.0
13	schwannomatosis 2	11.0
14	familial adenomatous polyposis 4	11.0
15	tumor predisposition syndrome	10.6
16	melanoma, uveal	10.5
17	benign mesothelioma	10.5
18	skin melanoma	10.4
19	mesothelioma, malignant	10.4
20	melanoma	10.4
21	renal cell carcinoma, nonpapillary	10.3
22	cholangiocarcinoma	10.3
23	intrahepatic cholangiocarcinoma	10.3
24	meningioma, familial	10.2
25	cutaneous telangiectasia and cancer syndrome, familial	10.2
26	intracranial meningioma	10.2
27	secretory meningioma	10.2
28	lymphoplasmacyte-rich meningioma	10.2
29	inherited cancer-predisposing syndrome	10.2
30	thyroid carcinoma	10.2
31	embryoma	10.2
32	glioma susceptibility 1	10.1
33	lymphoma, hodgkin, classic	10.1
34	lymphoma, non-hodgkin, familial	10.1
35	lung cancer susceptibility 3	10.1
36	neuroendocrine carcinoma	10.1
37	basal cell carcinoma	10.1
38	malignant astrocytoma	10.1
39	pancreatic adenocarcinoma	10.1
40	malignant peripheral nerve sheath tumor	10.1
41	nephroma	10.1
42	embryonal rhabdomyosarcoma	10.1
43	rhabdomyosarcoma	10.1
44	medulloepithelioma	10.1
45	dicer1-related pleuropulmonary blastoma cancer predisposition syndrome	10.1
46	coffin-siris syndrome 1	10.0
47	congenital heart defects, hamartomas of tongue, and polysyndactyly	10.0
48	small cell carcinoma	10.0
49	kidney rhabdoid cancer	10.0
50	ovarian small cell carcinoma	10.0

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

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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	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.17	BRCA2 PALB2
5	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.17	BRCA2 PALB2
6	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.17	BAP1 BRCA2 PMS2

MGI Mouse Phenotypes related to Bap1 Tumor Predisposition Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	neoplasm	MP:0002006	8.92	BAP1 BRCA2 PALB2 PMS2

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Drugs & Therapeutics for Bap1 Tumor Predisposition Syndrome

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Identification of Patients/Families With a Paediatric Tumor and One or More Developmental Abnormalities - Characterization of New Tumor Predisposition Syndromes and Study Their Molecular Basis	Unknown status	NCT01915797
2	Prospective Evaluation of Photon Counting Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome	Recruiting	NCT04431024

Search NIH Clinical Center for Bap1 Tumor Predisposition Syndrome

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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
2	Bap1 Cancer Syndrome ²⁹
3	Common Syndrome ²⁹
4	Bap1 Tumor Predisposition Syndrome ²⁹

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Anatomical Context for Bap1 Tumor Predisposition Syndrome

MalaCards organs/tissues related to Bap1 Tumor Predisposition Syndrome:

⁴⁰

Eye, Breast, Ovary, Lung, Skin, Spleen, Thyroid

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Publications for Bap1 Tumor Predisposition Syndrome

Articles related to Bap1 Tumor Predisposition Syndrome:

(show top 50) (show all 617)

#	Title	Authors	PMID	Year
1	Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide. ⁶¹ ²⁵ ⁶	Walpole S...Hayward NK	30517737	2018
2	Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. ⁶¹ ⁶ ²⁵	Rai K...Abdel-Rahman MH	26096145	2016
3	Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. ⁶¹ ²⁵ ⁶	Njauw CN...Tsao H	22545102	2012
4	Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families. ⁶ ²⁵	Potjer TP...Dutch Working Group for Clinical Oncogenetics	30414346	2019
5	Germline mutations of renal cancer predisposition genes and clinical relevance in Chinese patients with sporadic, early-onset disease. ²⁵ ⁶	Wu J...Ye D	30548481	2019
6	Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy. ⁶ ²⁵	Hassan R...Churpek JE	30975761	2019
7	Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature. ⁶ ²⁵	Haugh AM...Gerami P	28793149	2017
8	Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas. ²⁵ ⁶	Shankar GM...Santagata S	28170043	2017
9	Germline BAP1 alterations in familial uveal melanoma. ⁶ ²⁵	Rai K...H Abdel-Rahman M	27718540	2017
10	Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer. ⁶ ²⁵	Ohar JA...Testa JR	26719535	2016
11	Germline BAP1 mutation in a family with high incidence of multiple primary cancers and a potential gene-environment interaction. ⁶ ²⁵	Cheung M...Testa JR	26409435	2015
12	Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s. ²⁵ ⁶	Carbone M...Yang H	26683624	2015
13	A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. ²⁵ ⁶	Wadt KA...Hayward NK	25225168	2015
14	Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations. ⁶ ²⁵	Gupta MP...Kim IK	25974357	2015
15	Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases. ²⁵ ⁶	Pilarski R...Abdel-Rahman MH	24243779	2014
16	Germline BAP1 mutations predispose to renal cell carcinomas. ⁶ ²⁵	Popova T...Stern MH	23684012	2013
17	Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. ²⁵ ⁶	Abdel-Rahman MH...Davidorf FH	21941004	2011
18	Germline BAP1 mutations predispose to malignant mesothelioma. ²⁵ ⁶	Testa JR...Carbone M	21874000	2011
19	Germline mutations in BAP1 predispose to melanocytic tumors. ⁶ ²⁵	Wiesner T...Speicher MR	21874003	2011
20	Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines. ⁶¹ ⁶	Chau C...Nielsen M	31382694	2019
21	Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma. ⁶ ⁶¹	Ewens KG...Ganguly A	30477459	2018
22	Multiple Cutaneous Melanomas and Clinically Atypical Moles in a Patient With a Novel Germline BAP1 Mutation. ⁶¹ ⁶	Gerami P...Tsao H	26154183	2015
23	Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer. ⁶¹ ²⁵	Tesch ME...Eigl BJ	32218990	2020
24	Population-based analysis of BAP1 germline variations in patients with uveal melanoma. ⁶¹ ²⁵	Repo P...Kivela TT	31058963	2019
25	Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes. ⁶¹ ²⁵	Betti M...Dianzani I	30338612	2018
26	Clinical, dermoscopic, histological and molecular analysis of BAP1-inactivated melanocytic naevus/tumour in two familial cases of BAP1 syndrome. ⁶	Moawad S...Bursztejn AC	29754391	2018
27	Inherited DNA-Repair Defects in Colorectal Cancer. ⁶	AlDubayan SH...Van Allen EM	29478780	2018
28	Occurrence of BAP1 germline mutations in cutaneous melanocytic tumors with loss of BAP1-expression: A pilot study. ⁶	Cabaret O...de la Fouchardiere A	28560743	2017
29	Improving performance of multigene panels for genomic analysis of cancer predisposition. ⁶	Shirts BH...Pritchard CC	26845104	2016
30	CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma. ⁶	Betti M...Dianzani I	27181379	2016
31	Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. ⁶	Cebulla CM...Abdel-Rahman MH	25687217	2015
32	Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer. ⁶	Tea MK...Singer CF	24156927	2014
33	Melanoma susceptibility genes and risk assessment. ⁶¹ ²⁵	Marzuka-Alcala A...Tsao H	24258989	2014
34	The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment. ⁶¹ ²⁵	Battaglia A	24855403	2014
35	Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma. ⁶	Cheung M...Testa JR	23849051	2013
36	Hereditary uveal melanoma: a report of a germline mutation in BAP1. ⁶	Hoiom V...Hansson J	23341325	2013
37	Toward an improved definition of the tumor spectrum associated with BAP1 germline mutations. ⁶	Wiesner T...Speicher MR	23032617	2012
38	MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. ⁶	Talseth-Palmer BA...Scott RJ	20487569	2010
39	Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. ⁶	Papi L...Genuardi M	18821011	2009
40	BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. ⁶	Ventii KH...Wilkinson KD	18757409	2008
41	Splicing in action: assessing disease causing sequence changes. ⁶	Baralle D...Baralle M	16199547	2005
42	Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain. ⁶	Llort G...Franco MA	11857748	2002
43	Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma. ²⁵	Abdel-Rahman MH...Cebulla CM	32081490	2020
44	Opposite Roles of BAP1 in Overall Survival of Uveal Melanoma and Cutaneous Melanoma. ²⁵	Liu-Smith F...Lu Y	32028647	2020
45	Germline large deletion of BAP1 and decreased expression in non-tumor choroid in uveal melanoma patients with high risk for inherited cancer. ²⁵	Boru G...Abdel-Rahman MH	30883995	2019
46	A Subset of Mesotheliomas With Improved Survival Occurring in Carriers of BAP1 and Other Germline Mutations. ²⁵	Pastorino S...Carbone M	30376426	2018
47	Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma. ²⁵	Panou V...Churpek JE	30113886	2018
48	Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma. ²⁵	Carlo MI...Offit K	29978187	2018
49	Pathogenic Germline Variants in 10,389 Adult Cancers. ²⁵	Huang KL...Ding L	29625052	2018
50	Germline BAP1-positive patients: the dilemmas of cancer surveillance and a proposed interdisciplinary consensus monitoring strategy. ²⁵	Star P...Guitera P	29413689	2018

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Genes for Bap1 Tumor Predisposition Syndrome

Genes related to Bap1 Tumor Predisposition Syndrome (4 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BAP1	BRCA1 Associated Protein 1	Protein Coding	532.87	Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Publications (show sections)	21874003
2	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	400	Pathogenic ⁶	11857748 18821011 24156927
3	PALB2	Partner And Localizer Of BRCA2	Protein Coding	400	Pathogenic ⁶
4	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	400	Pathogenic ⁶	20487569

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Variations for Bap1 Tumor Predisposition Syndrome

ClinVar genetic disease variations for Bap1 Tumor Predisposition Syndrome:

⁶ (show top 50) (show all 802)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	BAP1	NM_004656.4(BAP1):c.1305del (p.Gln436fs)	Deletion	Pathogenic	30299	rs587776877	GRCh37: 3:52437856-52437856 GRCh38: 3:52403840-52403840
2	BAP1	NM_004656.4(BAP1):c.2057-2A>G	SNV	Pathogenic	30300	rs587776878	GRCh37: 3:52436439-52436439 GRCh38: 3:52402423-52402423
3	BAP1	NM_004656.4(BAP1):c.438-2A>G	SNV	Pathogenic	30301	rs587776879	GRCh37: 3:52441334-52441334 GRCh38: 3:52407318-52407318
4	BAP1	BAP1, 1-BP DEL, 1832C	Deletion	Pathogenic	30303		GRCh37: GRCh38:
5	BAP1	BAP1, 4-BP DEL, 2008TCAC	Deletion	Pathogenic	30304		GRCh37: GRCh38:
6	BAP1	NM_004656.4(BAP1):c.78_79del (p.Val27fs)	Deletion	Pathogenic	55878	rs397509413	GRCh37: 3:52443613-52443614 GRCh38: 3:52409597-52409598
7	BAP1	NM_004656.4(BAP1):c.277A>G (p.Thr93Ala)	SNV	Pathogenic	55879	rs375129361	GRCh37: 3:52442072-52442072 GRCh38: 3:52408056-52408056
8	BAP1	NM_004656.4(BAP1):c.1654del (p.Asp552fs)	Deletion	Pathogenic	55880	rs397509414	GRCh37: 3:52437507-52437507 GRCh38: 3:52403491-52403491
9	BAP1	NM_004656.4(BAP1):c.778C>T (p.Gln260Ter)	SNV	Pathogenic	220590	rs864622592	GRCh37: 3:52440274-52440274 GRCh38: 3:52406258-52406258
10	BAP1	NM_004656.4(BAP1):c.544G>T (p.Glu182Ter)	SNV	Pathogenic	412399	rs1060503726	GRCh37: 3:52441226-52441226 GRCh38: 3:52407210-52407210
11	BAP1	NM_004656.4(BAP1):c.519T>G (p.Tyr173Ter)	SNV	Pathogenic	412451	rs143901408	GRCh37: 3:52441251-52441251 GRCh38: 3:52407235-52407235
12	BAP1	NM_004656.4(BAP1):c.644del (p.Gly215fs)	Deletion	Pathogenic	412400	rs1060503727	GRCh37: 3:52440860-52440860 GRCh38: 3:52406844-52406844
13	BAP1	NM_004656.4(BAP1):c.1416del (p.Ser473fs)	Deletion	Pathogenic	412409	rs1060503731	GRCh37: 3:52437745-52437745 GRCh38: 3:52403729-52403729
14	BAP1	NM_004656.4(BAP1):c.1379C>A (p.Ser460Ter)	SNV	Pathogenic	472667	rs1553644949	GRCh37: 3:52437782-52437782 GRCh38: 3:52403766-52403766
15	BAP1	NC_000003.11:g.(?_52436298)_(52443900_?)del	Deletion	Pathogenic	472655		GRCh37: 3:52436298-52443900 GRCh38:
16	BAP1	NM_004656.4(BAP1):c.587G>A (p.Trp196Ter)	SNV	Pathogenic	472707	rs1553645725	GRCh37: 3:52440917-52440917 GRCh38: 3:52406901-52406901
17	BAP1	NM_004656.4(BAP1):c.592G>T (p.Glu198Ter)	SNV	Pathogenic	539909	rs1553645720	GRCh37: 3:52440912-52440912 GRCh38: 3:52406896-52406896
18	BAP1	NM_004656.4(BAP1):c.1464del (p.Ser489fs)	Deletion	Pathogenic	539913	rs1553644922	GRCh37: 3:52437697-52437697 GRCh38: 3:52403681-52403681
19	BAP1	NM_004656.4(BAP1):c.1203_1214del (p.Tyr401_Glu405delinsTer)	Deletion	Pathogenic	539923	rs1553645117	GRCh37: 3:52438505-52438516 GRCh38: 3:52404489-52404500
20	BAP1	NM_004656.4(BAP1):c.178C>T (p.Arg60Ter)	SNV	Pathogenic	580226	rs1253151209	GRCh37: 3:52442567-52442567 GRCh38: 3:52408551-52408551
21	overlap with 2 genes	NC_000003.12:g.(?_52399047)_(52409878_?)del	Deletion	Pathogenic	833290		GRCh37: 3:52433063-52443894 GRCh38:
22	BAP1	NM_004656.4(BAP1):c.133G>T (p.Gly45Ter)	SNV	Pathogenic	835021		GRCh37: 3:52442612-52442612 GRCh38: 3:52408596-52408596
23	BAP1	NM_004656.4(BAP1):c.1729G>T (p.Glu577Ter)	SNV	Pathogenic	845141		GRCh37: 3:52437432-52437432 GRCh38: 3:52403416-52403416
24	BAP1	NM_004656.4(BAP1):c.175del (p.Arg59fs)	Deletion	Pathogenic	851433		GRCh37: 3:52442570-52442570 GRCh38: 3:52408554-52408554
25	BAP1	NM_004656.4(BAP1):c.852del (p.Glu284fs)	Deletion	Pathogenic	854952		GRCh37: 3:52439860-52439860 GRCh38: 3:52405844-52405844
26	BAP1	NM_004656.4(BAP1):c.1437del (p.Thr480fs)	Deletion	Pathogenic	856406		GRCh37: 3:52437724-52437724 GRCh38: 3:52403708-52403708
27	BAP1	NM_004656.4(BAP1):c.1098T>G (p.Tyr366Ter)	SNV	Pathogenic	862537		GRCh37: 3:52439144-52439144 GRCh38: 3:52405128-52405128
28	BAP1	NM_004656.4(BAP1):c.1379C>G (p.Ser460Ter)	SNV	Pathogenic	650623	rs1553644949	GRCh37: 3:52437782-52437782 GRCh38: 3:52403766-52403766
29	BAP1	NM_004656.4(BAP1):c.1729+1G>A	SNV	Pathogenic	654973	rs1578220161	GRCh37: 3:52437431-52437431 GRCh38: 3:52403415-52403415
30	BAP1	NM_004656.4(BAP1):c.898_917del (p.Arg300fs)	Deletion	Pathogenic	663672	rs1578224271	GRCh37: 3:52439795-52439814 GRCh38: 3:52405779-52405798
31	BAP1	NM_004656.4(BAP1):c.1313C>A (p.Ser438Ter)	SNV	Pathogenic	942550		GRCh37: 3:52437848-52437848 GRCh38: 3:52403832-52403832
32	BAP1	NM_004656.4(BAP1):c.463A>T (p.Lys155Ter)	SNV	Pathogenic	944299		GRCh37: 3:52441307-52441307 GRCh38: 3:52407291-52407291
33	BAP1	NM_004656.4(BAP1):c.991_995del (p.Lys331fs)	Deletion	Pathogenic	944569		GRCh37: 3:52439247-52439251 GRCh38: 3:52405231-52405235
34	BAP1	NM_004656.4(BAP1):c.79del (p.Val27fs)	Deletion	Pathogenic	945509		GRCh37: 3:52443613-52443613 GRCh38: 3:52409597-52409597
35	BAP1	NM_004656.4(BAP1):c.1835del (p.Lys612fs)	Deletion	Pathogenic	412434	rs1060503743	GRCh37: 3:52437209-52437209 GRCh38: 3:52403193-52403193
36	BAP1	NM_004656.4(BAP1):c.181A>T (p.Lys61Ter)	SNV	Pathogenic	412435	rs1060503744	GRCh37: 3:52442564-52442564 GRCh38: 3:52408548-52408548
37	BAP1	NM_004656.4(BAP1):c.1036del (p.Val346fs)	Deletion	Pathogenic	950274		GRCh37: 3:52439206-52439206 GRCh38: 3:52405190-52405190
38	BAP1	NM_004656.4(BAP1):c.1986del (p.Ile662fs)	Deletion	Pathogenic	955914		GRCh37: 3:52436688-52436688 GRCh38: 3:52402672-52402672
39	BAP1	NM_004656.4(BAP1):c.238_239del (p.Met80fs)	Deletion	Pathogenic	965729		GRCh37: 3:52442506-52442507 GRCh38: 3:52408490-52408491
40	BAP1	NM_004656.4(BAP1):c.1565_1566del (p.Pro522fs)	Deletion	Pathogenic	970811		GRCh37: 3:52437595-52437596 GRCh38: 3:52403579-52403580
41	BAP1	NM_004656.4(BAP1):c.91del (p.Glu31fs)	Deletion	Pathogenic	539900	rs1553646294	GRCh37: 3:52443601-52443601 GRCh38: 3:52409585-52409585
42	BAP1	NM_004656.4(BAP1):c.1975A>T (p.Lys659Ter)	SNV	Pathogenic	539901	rs1553644659	GRCh37: 3:52436803-52436803 GRCh38: 3:52402787-52402787
43	BAP1	NM_004656.4(BAP1):c.118C>T (p.Gln40Ter)	SNV	Pathogenic	539912	rs1553646284	GRCh37: 3:52443574-52443574 GRCh38: 3:52409558-52409558
44	BAP1	NM_004656.4(BAP1):c.824del (p.Lys275fs)	Deletion	Pathogenic	565856	rs1559589252	GRCh37: 3:52439888-52439888 GRCh38: 3:52405872-52405872
45	BAP1	NM_004656.4(BAP1):c.11del (p.Gly4fs)	Deletion	Pathogenic	566165	rs1559593389	GRCh37: 3:52443884-52443884 GRCh38: 3:52409868-52409868
46	BAP1	NM_004656.4(BAP1):c.15G>A (p.Trp5Ter)	SNV	Pathogenic	575817	rs916069743	GRCh37: 3:52443880-52443880 GRCh38: 3:52409864-52409864
47	BAP1	NM_004656.4(BAP1):c.1729+1del	Deletion	Pathogenic	578825	rs1559586374	GRCh37: 3:52437431-52437431 GRCh38: 3:52403415-52403415
48	BAP1	NM_004656.4(BAP1):c.1185dup (p.Asp396fs)	Duplication	Pathogenic	412415	rs1553645136	GRCh37: 3:52438533-52438534 GRCh38: 3:52404517-52404518
49	BAP1	NM_004656.4(BAP1):c.517dup (p.Tyr173fs)	Duplication	Pathogenic	412449	rs1553645806	GRCh37: 3:52441252-52441253 GRCh38: 3:52407236-52407237
50	BAP1	NM_004656.4(BAP1):c.758dup (p.Thr254fs)	Duplication	Pathogenic	472715	rs1553645591	GRCh37: 3:52440293-52440294 GRCh38: 3:52406277-52406278

Sources

Expression for Bap1 Tumor Predisposition Syndrome

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

Sources

Pathways for Bap1 Tumor Predisposition Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	DNA Double-Strand Break Repair ⁶⁵ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁵ DNA damage_DNA-damage-induced responses ²³ DNA Repair ⁶⁵ G2/M DNA damage checkpoint ⁶⁵ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁵ HDR through MMEJ (alt-NHEJ) ⁶⁵ Homology Directed Repair ⁶⁵ Non-homologous end joining ¹ Non-homologous end-joining ³⁶ Processing of DNA double-strand break ends ⁶⁵	12.26	PMS2 PALB2 BRCA2 BAP1
2	Homologous DNA Pairing and Strand Exchange ⁶⁵ Show member pathways ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁵ HDR through Single Strand Annealing (SSA) ⁶⁵ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁵	11.55	PALB2 BRCA2
3	Resolution of D-loop Structures through Holliday Junction Intermediates ⁶⁵ Show member pathways Homologous recombination ³⁶ Homologous recombination ¹ Resolution of D-Loop Structures ⁶⁵ Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) ⁶⁵	11.33	PALB2 BRCA2
4	Fanconi anemia pathway ⁶⁵ ³⁶	10.77	PMS2 PALB2 BRCA2

Sources

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	PMS2 PALB2 BRCA2 BAP1

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	9.33	PMS2 PALB2 BRCA2
2	DNA recombination	GO:0006310	9.32	PALB2 BRCA2
3	double-strand break repair via homologous recombination	GO:0000724	9.26	PALB2 BRCA2
4	DNA repair	GO:0006281	9.13	PMS2 PALB2 BRCA2
5	inner cell mass cell proliferation	GO:0001833	8.62	PALB2 BRCA2

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	PMS2 BRCA2

Sources

Sources for Bap1 Tumor Predisposition Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia