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MCID: BP1002
MIFTS: 63

Bap1 Tumor Predisposition Syndrome

Categories: Rare diseases
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Aliases & Classifications for Bap1 Tumor Predisposition Syndrome

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MalaCards integrated aliases for Bap1 Tumor Predisposition Syndrome:

Name: Bap1 Tumor Predisposition Syndrome 24 19 42
Bap1-Related Tumor Predisposition Syndrome 19 42 58 28 5
Common Syndrome 24 19 42 28
Bap1 Cancer Syndrome 24 28 5
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, and Other Internal Neoplasms 19 42
Tumor Susceptibility Linked to Germline Bap1 Mutations 19 58
Tumor Predisposition Syndrome 19 71
Bap1-Tpds 19 42
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms 24
Tumor Predisposition 5

Characteristics:


Inheritance:

Bap1-Related Tumor Predisposition Syndrome: Autosomal dominant 58

Age Of Onset:

Bap1-Related Tumor Predisposition Syndrome: Adult 58

GeneReviews:

24
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:

Orphanet 58 ORPHA289539
UMLS 71 C3280492
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Summaries for Bap1 Tumor Predisposition Syndrome

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MedlinePlus Genetics: 42 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 bap1-related tumor predisposition syndrome, is related to tumor predisposition syndrome 1 and melanoma, uveal. An important gene associated with Bap1 Tumor Predisposition Syndrome is BAP1 (BRCA1 Associated Protein 1), and among its related pathways/superpathways are Disease and Cell Cycle, Mitotic. Affiliated tissues include breast, lung and skin, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Decreased viability

GARD: 19 BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for the specific skin lesion – atypical Spitz tumors – and the following cancers, in descending order of frequency: uveal (eye) melanoma (UM), malignant mesothelioma (MMe), cutaneous melanoma (CM), clear cell renal cell carcinoma (ccRCC), and basal cell carcinoma (BCC). Affected individuals can have more than one type of primary cancer. In general the median age of onset of these tumors is younger than in the general population. UM tends to be a more aggressive class 2 tumor with higher risk for metastasis and reduced survival compared to UM that occurs in the general population. However, because of the limited number of families reported to date, the penetrance, natural history, and frequencies of the BAP1-associated tumors are yet to be determined. Other suspected but unconfirmed tumors in BAP1-TPDS include (in alphabetic order): breast cancer, cholangiocarcinoma, non-small cell lung adenocarcinoma (NSCLC), meningioma, and neuroendocrine carcinoma.

Orphanet: 58 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

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

(show top 50) (show all 281)
# Related Disease Score Top Affiliating Genes
1 tumor predisposition syndrome 1 31.9 BRCA2 BAP1
2 melanoma, uveal 31.7 CDKN2A CDH1 BRCA1 BAP1 APC
3 ocular melanoma 31.7 CDKN2A BRCA2 BAP1
4 cholangiocarcinoma 31.3 CDKN2A CDKN1B CDH1 BRCA2 BRCA1 BAP1
5 inherited cancer-predisposing syndrome 31.2 DICER1 DHFR CHEK2 CDKN2A CDKN1B CDH1
6 wilms tumor 1 31.1 DICER1 CHEK2 CDKN2A CDH1 CDC73 BRCA2
7 rhabdomyosarcoma 30.9 DICER1 CHEK2 CDKN2A CDKN1B BRCA2 BRCA1
8 renal cell carcinoma, nonpapillary 30.8 CDKN2A CDKN1B CDH1 C11orf65 BRCA1 BAP1
9 bloom syndrome 30.7 BRCA2 BRCA1 BLM ATM
10 li-fraumeni syndrome 30.6 DICER1 CHEK2 CDKN2A CDH1 BRCA2 BRCA1
11 fanconi anemia, complementation group a 30.6 DHFR CHEK2 CDKN2A BRIP1 BRCA2 BRCA1
12 adenoma 30.6 CDKN2A CDKN1B CDH1 CDC73 AXIN2 APC
13 medulloblastoma 30.5 DHFR CDKN2A CDKN1B CDH1 BRCA2 BRCA1
14 leukemia, acute myeloid 30.5 DICER1 CHEK2 CDKN2A CDKN1B CDH1 BRCA2
15 endometrial cancer 30.5 CDKN2A CDKN1B CDH1 BRCA2 BRCA1 AXIN2
16 female breast cancer 30.5 CDKN2A BRCA2 BRCA1
17 intestinal benign neoplasm 30.4 CDKN2A CDH1 AXIN2 APC
18 familial adenomatous polyposis 30.4 CDH1 BMPR1A AXIN2 APC
19 neuroblastoma 30.4 DICER1 CDKN2A CDKN1B CDH1 BRCA1 BARD1
20 leukemia, chronic lymphocytic 30.2 DICER1 CDKN2A BRCA2 ATM APC
21 nervous system disease 30.1 DICER1 CHEK2 CDKN2A CDKN1B CDH1 BRCA1
22 deficiency anemia 30.0 DHFR BRIP1 BRCA2 BRCA1 ATM
23 atypical teratoid rhabdoid tumor 11.7
24 rhabdoid tumor predisposition syndrome 2 11.7
25 rhabdoid tumor predisposition syndrome 1 11.7
26 tumor predisposition syndrome 2 11.5
27 rhabdoid cancer 11.5
28 dicer1 tumor predisposition 11.3
29 paragangliomas 6 11.2
30 paragangliomas 7 11.2
31 fh tumor predisposition syndrome 11.2
32 pleuropulmonary blastoma 11.1
33 wilms tumor predisposition 11.1
34 pot1 tumor predisposition 11.1
35 diaphyseal medullary stenosis with malignant fibrous histiocytoma 11.1
36 hereditary leiomyomatosis and renal cell cancer 11.1
37 schwannomatosis 2 11.1
38 familial adenomatous polyposis 4 11.1
39 costello syndrome 11.0
40 beckwith-wiedemann syndrome 11.0
41 legius syndrome 11.0
42 benign mesothelioma 10.6
43 familial ovarian cancer 10.6 CHEK2 C11orf65 ATM
44 dysplastic nevus syndrome 10.6 CDKN2A BRCA2 BRCA1 ATM
45 peritoneum cancer 10.6 CDKN2A BRCA2 BRCA1 BARD1 BAP1
46 tracheoesophageal fistula with or without esophageal atresia 10.6 BRIP1 BRCA2 AOPEP
47 esophageal atresia 10.6 BRIP1 BRCA2 AOPEP
48 hypertrophy of breast 10.6 CHEK2 BRCA2 BRCA1 ATM
49 fanconi anemia, complementation group n 10.6 BRIP1 BRCA2 BRCA1
50 polyposis syndrome, hereditary mixed, 1 10.6 BRCA2 BRCA1 APC

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



Diseases related to Bap1 Tumor Predisposition Syndrome
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Symptoms & Phenotypes for Bap1 Tumor Predisposition Syndrome

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

25 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.36 BARD1 BRCA1 BRCA2 CDKN2A
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.36 ATM BLM BRCA1 BRCA2 BRIP1 CDKN2A
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.36 ATM BARD1 BLM BRCA1 BRCA2 CHEK2
4 Decreased viability GR00221-A-1 10.3 BMPR1A CDKN2A
5 Decreased viability GR00221-A-2 10.3 BMPR1A BRCA1 CHEK2
6 Decreased viability GR00221-A-3 10.3 ATM BMPR1A BRCA1 CDKN2A CHEK2
7 Decreased viability GR00221-A-4 10.3 ATM BMPR1A CDKN2A CHEK2
8 Decreased viability GR00249-S 10.3 BMPR1A
9 Decreased viability GR00301-A 10.3 BRCA1
10 Decreased viability GR00342-S-2 10.3 CHEK2
11 Decreased homologous recombination repair frequency GR00151-A-1 10.28 BARD1 BRCA1
12 Decreased homologous recombination repair frequency GR00151-A-2 10.28 BRCA1
13 Decreased homologous recombination repair frequency GR00236-A-1 10.28 BARD1 BRCA1 BRCA2 CDC73
14 Decreased homologous recombination repair frequency GR00236-A-2 10.28 BARD1 BRCA1 BRCA2 CDC73
15 Decreased homologous recombination repair frequency GR00236-A-3 10.28 BARD1 BRCA1 BRCA2 CDC73
16 no effect GR00402-S-1 10.21 AIP AOPEP APC ATM AXIN2 BAP1
17 no effect GR00402-S-2 10.21 AIP AOPEP APC ATM AXIN2 BAP1
18 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.88 APC AXIN2 BARD1 BRCA1 BRCA2
19 Increased ionizing radiation sensitivity GR00232-A-1 9.8 ATM BARD1 BRCA1 BRCA2 CDC73 CDH1
20 Synthetic lethal with cisplatin GR00101-A-1 9.76 BARD1 BRCA1 BRCA2 BRIP1
21 Decreased viability with cisplatin GR00101-A-4 9.73 BARD1 BRCA1 BRCA2 BRIP1
22 Decreased viability after ionizing radiation GR00232-A-2 9.43 ATM BRCA1 BRCA2
23 Decreased viability in pancreas lineage GR00235-A 9.33 AOPEP CDKN1B CHEK2

MGI Mouse Phenotypes related to Bap1 Tumor Predisposition Syndrome:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 10.48 AIP APC ATM BAP1 BARD1 BLM
2 homeostasis/metabolism MP:0005376 10.44 AIP AOPEP APC ATM BAP1 BARD1
3 growth/size/body region MP:0005378 10.42 AIP APC ATM AXIN2 BAP1 BARD1
4 nervous system MP:0003631 10.39 APC ATM AXIN2 BARD1 BMPR1A BRCA1
5 endocrine/exocrine gland MP:0005379 10.38 AIP APC ATM AXIN2 BAP1 BARD1
6 embryo MP:0005380 10.36 AIP APC ATM AXIN2 BAP1 BARD1
7 cellular MP:0005384 10.36 AIP APC ATM AXIN2 BAP1 BARD1
8 normal MP:0002873 10.27 AOPEP APC AXIN2 BARD1 BLM BMPR1A
9 cardiovascular system MP:0005385 10.24 AIP APC ATM AXIN2 BAP1 BLM
10 muscle MP:0005369 10.19 APC BAP1 BMPR1A BRCA1 CDC73 CDKN1B
11 immune system MP:0005387 10.17 APC ATM BAP1 BLM BMPR1A BRCA1
12 liver/biliary system MP:0005370 10.13 AIP APC BRIP1 CDC73 CDKN1B CDKN2A
13 digestive/alimentary MP:0005381 10.13 APC AXIN2 BAP1 BMPR1A BRCA1 BRCA2
14 reproductive system MP:0005389 10.13 APC ATM AXIN2 BAP1 BARD1 BMPR1A
15 no phenotypic analysis MP:0003012 10.1 AXIN2 BAP1 BLM CDH1 CDKN1B CDKN2A
16 hematopoietic system MP:0005397 10 APC ATM BAP1 BLM BMPR1A BRCA1
17 pigmentation MP:0001186 9.98 APC BMPR1A BRCA1 CDKN1B CDKN2A
18 mortality/aging MP:0010768 9.89 AIP APC ATM AXIN2 BAP1 BARD1
19 integument MP:0010771 9.5 AIP APC ATM AXIN2 BAP1 BLM
Sources

Drugs & Therapeutics for Bap1 Tumor Predisposition Syndrome

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Evaluation of High Resolution Dual Energy 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
2 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
3 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 Recruiting NCT01915797
4 Collection of Blood From Patients With Cancer, Other Tumors, or Tumor Predisposition Syndromes for Analysis of Genetic Differences in Drug Disposition Recruiting NCT01441089
5 Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes Not yet recruiting NCT05534854

Search NIH Clinical Center for Bap1 Tumor Predisposition Syndrome

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Genetic Tests for Bap1 Tumor Predisposition Syndrome

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Genetic tests related to Bap1 Tumor Predisposition Syndrome:

# Genetic test Affiliating Genes
1 Bap1-Related Tumor Predisposition Syndrome 28 BAP1
2 Bap1 Cancer Syndrome 28
3 Common Syndrome 28
Sources

Anatomical Context for Bap1 Tumor Predisposition Syndrome

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Organs/tissues related to Bap1 Tumor Predisposition Syndrome:

MalaCards : Breast, Lung, Skin, Kidney, Eye, Prostate, Thyroid
Sources

Publications for Bap1 Tumor Predisposition Syndrome

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Articles related to Bap1 Tumor Predisposition Syndrome:

(show top 50) (show all 8218)
# Title Authors PMID Year
1
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide. 62 24 5
30517737 2018
2
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes. 62 24 5
30338612 2018
3
Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature. 62 24 5
28793149 2017
4
Germline BAP1 alterations in familial uveal melanoma. 62 24 5
27718540 2017
5
Bap1 Is a Bona Fide Tumor Suppressor: Genetic Evidence from Mouse Models Carrying Heterozygous Germline Bap1 Mutations. 62 24 5
26896281 2016
6
A novel BAP1 mutation is associated with melanocytic neoplasms and thyroid cancer. 62 24 5
26774355 2016
7
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. 62 24 5
26096145 2016
8
Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s. 62 24 5
26683624 2015
9
A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. 62 24 5
25225168 2015
10
Germline BAP1 mutations predispose to renal cell carcinomas. 62 24 5
23684012 2013
11
BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. 62 24 5
22935333 2012
12
Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. 62 24 5
22545102 2012
13
Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma. 24 5
32081490 2020
14
Germline large deletion of BAP1 and decreased expression in non-tumor choroid in uveal melanoma patients with high risk for inherited cancer. 24 5
30883995 2019
15
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families. 24 5
30414346 2019
16
Germline mutations of renal cancer predisposition genes and clinical relevance in Chinese patients with sporadic, early-onset disease. 24 5
30548481 2019
17
Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy. 24 5
30975761 2019
18
Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma. 24 5
30113886 2018
19
Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma. 24 5
29978187 2018
20
Pathogenic Germline Variants in 10,389 Adult Cancers. 24 5
29625052 2018
21
Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas. 24 5
28170043 2017
22
Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer. 24 5
26719535 2016
23
Germline BAP1 mutation in a family with high incidence of multiple primary cancers and a potential gene-environment interaction. 24 5
26409435 2015
24
Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations. 24 5
25974357 2015
25
Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome. 24 5
25900292 2015
26
Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma Cases. 24 5
25787093 2015
27
Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases. 24 5
24243779 2014
28
Prevalence of germline BAP1 mutation in a population-based sample of uveal melanoma cases. 24 5
23171164 2013
29
A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers. 24 5
23977234 2013
30
A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. 24 5
22889334 2012
31
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. 24 5
21941004 2011
32
Germline BAP1 mutations predispose to malignant mesothelioma. 24 5
21874000 2011
33
Germline mutations in BAP1 predispose to melanocytic tumors. 24 5
21874003 2011
34
Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1. 62 5
31201679 2019
35
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines. 62 5
31382694 2019
36
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype. 62 5
30753826 2019
37
The molecular landscape of glioma in patients with Neurofibromatosis 1. 62 5
30531922 2019
38
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study. 62 5
30178239 2018
39
Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma. 62 5
30477459 2018
40
Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients. 62 5
30014477 2018
41
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis. 62 5
30290804 2018
42
Histomorphologic spectrum of germline-related and sporadic BAP1-inactivated melanocytic tumors. 62 5
29753057 2018
43
Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients. 62 5
29761599 2018
44
Clinical and molecular characterization of neurofibromatosis in southern Brazil. 62 5
29685074 2018
45
Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome. 62 5
29061454 2018
46
A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. 62 5
28573494 2017
47
Type III pleuropulmonary blastoma in a dicer1 germline mutation carrier: The management of residual lung cystic lesions. 62 5
28097783 2017
48
The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. 62 5
28068329 2017
49
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. 62 5
28323992 2017
50
DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations. 62 5
27830405 2017
Sources

Variations for Bap1 Tumor Predisposition Syndrome

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ClinVar genetic disease variations for Bap1 Tumor Predisposition Syndrome:

5 (show top 50) (show all 132323)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHEK2 NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) SNV Pathogenic/Likely Pathogenic/Established Risk Allele
 5603 rs137853011 GRCh37: 22:29091207-29091207
GRCh38: 22:28695219-28695219
2 APC NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) SNV Pathogenic/Likely Pathogenic/Established Risk Allele; Risk Factor
 822 rs1801155 GRCh37: 5:112175211-112175211
GRCh38: 5:112839514-112839514
3 ATM NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) MICROSAT Pathogenic
 231178 rs876659003 GRCh37: 11:108115603-108115604
GRCh38: 11:108244876-108244877
4 CDH1 NM_004360.5(CDH1):c.2293C>T (p.Gln765Ter) SNV Pathogenic
 230451 rs876658575 GRCh37: 16:68862205-68862205
GRCh38: 16:68828302-68828302
5 MSH2 NM_000251.3(MSH2):c.1344del (p.Lys449fs) DEL Pathogenic
 231037 rs876658918 GRCh37: 2:47672753-47672753
GRCh38: 2:47445614-47445614
6 BRCA2 NM_000059.4(BRCA2):c.9278del (p.Leu3093fs) DEL Pathogenic
 230575 rs876658643 GRCh37: 13:32968845-32968845
GRCh38: 13:32394708-32394708
7 RAD50, TH2LCRR NM_005732.4(RAD50):c.3787C>T (p.Gln1263Ter) SNV Pathogenic
 232259 rs876659654 GRCh37: 5:131977904-131977904
GRCh38: 5:132642212-132642212
8 PALB2 NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter) SNV Pathogenic
 231919 rs778345761 GRCh37: 16:23625412-23625412
GRCh38: 16:23614091-23614091
9 BRCA2 NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs) INDEL Pathogenic
 233493 rs483353072 GRCh37: 13:32932023-32932025
GRCh38: 13:32357886-32357888
10 BRCA2 NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) SNV Pathogenic
 51041 rs80358391 GRCh37: 13:32893246-32893246
GRCh38: 13:32319109-32319109
11 ATM NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) SNV Pathogenic
 233607 rs768362387 GRCh37: 11:108124573-108124573
GRCh38: 11:108253846-108253846
12 MSH6 NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs) DUP Pathogenic
 89193 rs63750854 GRCh37: 2:48026541-48026542
GRCh38: 2:47799402-47799403
13 FLCN NM_144997.7(FLCN):c.235_238del (p.Ser79fs) DEL Pathogenic
 3371 rs750146811 GRCh37: 17:17131214-17131217
GRCh38: 17:17227900-17227903
14 BRCA1 NM_007294.4(BRCA1):c.520del (p.Gln174fs) DEL Pathogenic
 55460 rs80357639 GRCh37: 17:41251819-41251819
GRCh38: 17:43099802-43099802
15 ATM NM_000051.4(ATM):c.3335dup (p.Leu1113fs) DUP Pathogenic
 232858 rs876660031 GRCh37: 11:108150266-108150267
GRCh38: 11:108279539-108279540
16 RAD50 NM_005732.4(RAD50):c.1393C>T (p.Gln465Ter) SNV Pathogenic
 127997 rs587780150 GRCh37: 5:131925470-131925470
GRCh38: 5:132589778-132589778
17 BRCA2 NM_000059.4(BRCA2):c.4456_4459del (p.Val1486fs) DEL Pathogenic
 51650 rs80359449 GRCh37: 13:32912946-32912949
GRCh38: 13:32338809-32338812
18 SDHD NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) SNV Pathogenic
 6913 rs104894308 GRCh37: 11:111958657-111958657
GRCh38: 11:112087933-112087933
19 BRCA1 NM_007294.4(BRCA1):c.3979C>T (p.Gln1327Ter) SNV Pathogenic
 232360 rs876659720 GRCh37: 17:41243569-41243569
GRCh38: 17:43091552-43091552
20 BRCA1 NM_007294.4(BRCA1):c.3333del (p.Glu1112fs) DEL Pathogenic
 54847 rs80357966 GRCh37: 17:41244215-41244215
GRCh38: 17:43092198-43092198
21 BRCA2 NM_000059.4(BRCA2):c.6044T>A (p.Leu2015Ter) SNV Pathogenic
 156172 rs587776468 GRCh37: 13:32914536-32914536
GRCh38: 13:32340399-32340399
22 BRCA2 NM_000059.4(BRCA2):c.2835dup (p.Asp946fs) DUP Pathogenic
 231432 rs80359356 GRCh37: 13:32911321-32911322
GRCh38: 13:32337184-32337185
23 BRCA1 NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) SNV Pathogenic
 54527 rs80357063 GRCh37: 17:41245239-41245239
GRCh38: 17:43093222-43093222
24 BARD1 NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter) SNV Pathogenic
 182051 rs730881422 GRCh37: 2:215595140-215595140
GRCh38: 2:214730416-214730416
25 BRCA1 NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) SNV Pathogenic
 37392 rs80357498 GRCh37: 17:41267761-41267761
GRCh38: 17:43115744-43115744
26 ATM NM_000051.4(ATM):c.2295del (p.Asn765fs) DEL Pathogenic
 230468 rs876658583 GRCh37: 11:108128252-108128252
GRCh38: 11:108257525-108257525
27 BRCA2 NM_000059.4(BRCA2):c.9069_9076del (p.Asn3024fs) DEL Pathogenic
 52739 rs80359746 GRCh37: 13:32954001-32954008
GRCh38: 13:32379864-32379871
28 PALB2 NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter) SNV Pathogenic
 229713 rs876658157 GRCh37: 16:23625361-23625361
GRCh38: 16:23614040-23614040
29 CDH1 NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs) DEL Pathogenic
 229907 rs876658261 GRCh37: 16:68849584-68849590
GRCh38: 16:68815681-68815687
30 TP53 NM_000546.6(TP53):c.158G>A (p.Trp53Ter) SNV Pathogenic
 230285 rs876658483 GRCh37: 17:7579529-7579529
GRCh38: 17:7676211-7676211
31 TP53 NM_000546.6(TP53):c.329G>C (p.Arg110Pro) SNV Pathogenic
 233627 rs11540654 GRCh37: 17:7579358-7579358
GRCh38: 17:7676040-7676040
32 ATM, C11orf65 NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) MICROSAT Pathogenic
 230200 rs1450394308 GRCh37: 11:108203578-108203582
GRCh38: 11:108332851-108332855
33 PALB2 NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter) SNV Pathogenic
 229742 rs876658166 GRCh37: 16:23646489-23646489
GRCh38: 16:23635168-23635168
34 BRCA2 NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs) DUP Pathogenic
 182326 rs730881619 GRCh37: 13:32972540-32972541
GRCh38: 13:32398403-32398404
35 ATM, C11orf65 NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) SNV Pathogenic
 233403 rs876660382 GRCh37: 11:108236083-108236083
GRCh38: 11:108365356-108365356
36 BRCA2 NM_000059.4(BRCA2):c.6446_6447del (p.Ile2149fs) DEL Pathogenic
 233457 rs876660421 GRCh37: 13:32914938-32914939
GRCh38: 13:32340801-32340802
37 BRCA1 NM_007294.4(BRCA1):c.4357+1G>T SNV Pathogenic
 55178 rs80358027 GRCh37: 17:41234420-41234420
GRCh38: 17:43082403-43082403
38 MLH1 NM_000249.4(MLH1):c.677+3A>G SNV Pathogenic
 90315 rs267607780 GRCh37: 3:37053593-37053593
GRCh38: 3:37012102-37012102
39 ATM NM_000051.4(ATM):c.802C>T (p.Gln268Ter) SNV Pathogenic
 188961 rs557012154 GRCh37: 11:108115654-108115654
GRCh38: 11:108244927-108244927
40 APC NM_000038.6(APC):c.7715C>G (p.Ser2572Ter) SNV Pathogenic
 231654 rs876659280 GRCh37: 5:112179006-112179006
GRCh38: 5:112843309-112843309
41 TP53 NM_000546.6(TP53):c.818G>C (p.Arg273Pro) SNV Pathogenic
 231060 rs28934576 GRCh37: 17:7577120-7577120
GRCh38: 17:7673802-7673802
42 MUTYH NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) SNV Pathogenic
 5297 rs121908381 GRCh37: 1:45796892-45796892
GRCh38: 1:45331220-45331220
43 BRCA2 NM_000059.4(BRCA2):c.518del (p.Gly173Valfs) DEL Pathogenic
 37949 rs80359492 GRCh37: 13:32900635-32900635
GRCh38: 13:32326498-32326498
44 PALB2 NM_024675.4(PALB2):c.745_749del (p.Pro249fs) DEL Pathogenic
 231731 rs876659326 GRCh37: 16:23647118-23647122
GRCh38: 16:23635797-23635801
45 BRCA2 NM_000059.4(BRCA2):c.6990dup (p.Thr2331fs) DUP Pathogenic
 230814 rs876658789 GRCh37: 13:32921014-32921015
GRCh38: 13:32346877-32346878
46 BRCA2 NM_000059.4(BRCA2):c.1278del (p.Asp427fs) DEL Pathogenic
 51094 rs80359274 GRCh37: 13:32906889-32906889
GRCh38: 13:32332752-32332752
47 ATM, C11orf65 NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs) MICROSAT Pathogenic
 232841 rs876660022 GRCh37: 11:108236063-108236064
GRCh38: 11:108365336-108365337
48 BRCA1 NM_007294.4(BRCA1):c.5152+1G>A SNV Pathogenic
 125768 rs80358094 GRCh37: 17:41215890-41215890
GRCh38: 17:43063873-43063873
49 MSH6 NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs) DEL Pathogenic
 89370 rs267608092 GRCh37: 2:48030692-48030693
GRCh38: 2:47803553-47803554
50 BRCA2 NM_000059.4(BRCA2):c.9093_9094delinsG (p.Thr3033fs) INDEL Pathogenic
 233628 rs876660532 GRCh37: 13:32954026-32954027
GRCh38: 13:32379889-32379890
Sources

Expression for Bap1 Tumor Predisposition Syndrome

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