TPDS
MCID: TMR010
MIFTS: 51

Tumor Predisposition Syndrome (TPDS)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Tumor Predisposition Syndrome

MalaCards integrated aliases for Tumor Predisposition Syndrome:

Name: Tumor Predisposition Syndrome 58 76 13 74
Tpds 58 76
Tumor Susceptibility Linked to Germline Bap1 Mutations 60
Bap1-Related Tumor Predisposition Syndrome 60
Syndrome, Tumor Predisposition 41

Characteristics:

Orphanet epidemiological data:

60
bap1-related tumor predisposition syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
tumor predisposition syndrome


HPO:

33
tumor predisposition syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Tumor Predisposition Syndrome

OMIM : 58 This tumor predisposition syndrome is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BAP1 mutations are at high-risk for the development of a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma (155720), cutaneous melanoma (155600), malignant mesothelioma on exposure to asbestos (156240), and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma (summary by Wiesner et al., 2011, Testa et al., 2011, Abdel-Rahman et al., 2011, and Popova et al., 2013). (614327)

MalaCards based summary : Tumor Predisposition Syndrome, also known as tpds, is related to rhabdoid tumor predisposition syndrome 1 and atypical teratoid rhabdoid tumor. An important gene associated with Tumor Predisposition Syndrome is BAP1 (BRCA1 Associated Protein 1), and among its related pathways/superpathways are DNA Double-Strand Break Repair and DNA Damage. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and eye, and related phenotypes are lung adenocarcinoma and renal cell carcinoma

UniProtKB/Swiss-Prot : 76 Tumor predisposition syndrome: A condition characterized by predisposition to develop a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, lung adenocarcinoma and meningioma.

Related Diseases for Tumor Predisposition Syndrome

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 rhabdoid tumor predisposition syndrome 1 34.2 DERL3 SMARCB1
2 atypical teratoid rhabdoid tumor 33.4 SMARCA4 SMARCB1
3 rhabdoid cancer 33.0 SMARCA4 SMARCB1
4 bap1 tumor predisposition syndrome 12.7
5 rhabdoid tumor predisposition syndrome 2 12.6
6 pleuropulmonary blastoma 11.4
7 dicer1-related disorders 11.1
8 diaphyseal medullary stenosis with malignant fibrous histiocytoma 11.0
9 hereditary leiomyomatosis and renal cell cancer 11.0
10 mesothelioma, malignant 11.0
11 meningioma, familial 11.0
12 schwannomatosis 2 11.0
13 familial adenomatous polyposis 4 11.0
14 central nervous system sarcoma 10.3 SMARCA4 SMARCB1
15 rhabdoid meningioma 10.2 BAP1 SMARCB1
16 testicular granulosa cell tumor 10.2 DICER1 SMARCA4
17 schwannomatosis 1 10.2 DERL3 SMARCB1
18 juvenile type testicular granulosa cell tumor 10.2 DICER1 SMARCA4
19 ocular melanoma 10.1 BAP1 BRCA2
20 borjeson-forssman-lehmann syndrome 10.1 SMARCA4 SMARCB1
21 pleural disease 10.1 BAP1 DICER1
22 embryoma 10.0
23 blood group, colton system 10.0
24 larsen syndrome 10.0
25 osteoporosis 10.0
26 short stature, idiopathic, x-linked 10.0
27 bone mineral density quantitative trait locus 8 10.0
28 bone mineral density quantitative trait locus 15 10.0
29 oral squamous cell carcinoma 10.0
30 squamous cell carcinoma 10.0
31 polymyositis 10.0
32 dysgerminoma of ovary 10.0 BRCA2 DICER1
33 breast giant fibroadenoma 10.0 BRCA2 PMS2
34 coffin-siris syndrome 1 10.0 SMARCA4 SMARCB1
35 tracheoesophageal fistula 10.0 BRCA2 PALB2
36 tracheoesophageal fistula with or without esophageal atresia 10.0 BRCA2 PALB2
37 isolated tracheoesophageal fistula 10.0 BRCA2 PALB2
38 lynch syndrome i 10.0 BRCA2 PMS2
39 pancreatic neuroendocrine tumor 10.0 BRCA2 PALB2
40 fanconi anemia, complementation group n 10.0 BRCA2 PALB2
41 bilateral breast cancer 9.9 BRCA2 PALB2
42 hypertrichosis 9.9 SMARCA4 SMARCB1
43 peritoneum cancer 9.8 BAP1 BRCA2 PALB2
44 female breast cancer 9.8 BRCA2 PALB2
45 brain cancer 9.7 BRCA2 PMS2 SMARCB1
46 neurofibromatosis, type iv, of riccardi 9.7
47 costello syndrome 9.7
48 melanoma 9.7
49 neurilemmomatosis 9.7
50 neurofibrosarcoma 9.7

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



Diseases related to Tumor Predisposition Syndrome

Symptoms & Phenotypes for Tumor Predisposition Syndrome

Human phenotypes related to Tumor Predisposition Syndrome:

33
# Description HPO Frequency HPO Source Accession
1 lung adenocarcinoma 33 HP:0030078
2 renal cell carcinoma 33 HP:0005584
3 meningioma 33 HP:0002858
4 cutaneous melanoma 33 HP:0012056
5 uveal melanoma 33 HP:0007716

Symptoms via clinical synopsis from OMIM:

58
Respiratory Lung:
lung adenocarcinoma
mesothelioma, malignant, after asbestos exposure

Neoplasia:
meningioma
cutaneous melanoma
uveal melanoma
mesothelioma, malignant, after asbestos exposure
renal cell carcinoma, usually clear cell type

Head And Neck Eyes:
uveal melanoma

Neurologic Central Nervous System:
meningioma

Skin Nails Hair Skin:
cutaneous melanoma
melanocytic skin tumors/papules, skin-colored to reddish-brown, dome-shaped or pedunculated, well circumscribed with an average size of 5 mm (in 2 families)

Skin Nails Hair Skin Histology:
dermal tumors composed of epithelioid melanocytes
abundant cytoplasm
prominent nucleoli
melanocytes contain large vesicular nuclei with varying shapes
some show atypical features, such as nuclear pleomorphism

Clinical features from OMIM:

614327

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.13 BRCA2 SMARCA4 SMARCB1
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.02 BAP1 BRCA2 MRE11 PALB2 PMS2

MGI Mouse Phenotypes related to Tumor Predisposition Syndrome:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.08 BAP1 BRCA2 DICER1 MRE11 PALB2 PMS2
2 embryo MP:0005380 9.98 BAP1 BRCA2 DICER1 MRE11 PALB2 SMARCA4
3 cardiovascular system MP:0005385 9.97 BAP1 DICER1 MRE11 PALB2 SMARCA4 SMARCB1
4 homeostasis/metabolism MP:0005376 9.97 BAP1 BRCA2 DERL3 DICER1 MRE11 PMS2
5 hematopoietic system MP:0005397 9.95 BAP1 BRCA2 DICER1 MRE11 PMS2 SMARCA4
6 immune system MP:0005387 9.87 BAP1 BRCA2 DICER1 MRE11 PMS2 SMARCA4
7 digestive/alimentary MP:0005381 9.85 BAP1 BRCA2 PMS2 SMARCA4 SMARCB1
8 mortality/aging MP:0010768 9.76 BAP1 BRCA2 DICER1 MRE11 PALB2 PMS2
9 integument MP:0010771 9.65 BAP1 BRCA2 DICER1 PALB2 SMARCA4
10 neoplasm MP:0002006 9.56 BAP1 BRCA2 DICER1 MRE11 PALB2 PMS2
11 reproductive system MP:0005389 9.1 BAP1 BRCA2 DICER1 MRE11 PMS2 SMARCB1

Drugs & Therapeutics for Tumor Predisposition Syndrome

Drugs for Tumor Predisposition Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 2 113-45-1 4158
3
Citalopram Approved Phase 2 59729-33-8 2771
4
Esmolol Approved Phase 2 103598-03-4, 81147-92-4 59768
5 Parasympatholytics Phase 2
6 Dopamine Agents Phase 2
7 Neurotransmitter Uptake Inhibitors Phase 2
8 Peripheral Nervous System Agents Phase 2
9 Antidepressive Agents Phase 2,Not Applicable
10 Antiparkinson Agents Phase 2
11 Cholinergic Agents Phase 2
12 Cholinergic Antagonists Phase 2
13 Autonomic Agents Phase 2
14 Antidepressive Agents, Second-Generation Phase 2
15 Psychotropic Drugs Phase 2,Not Applicable
16 Neurotransmitter Agents Phase 2
17 Serotonin Agents Phase 2
18 Serotonin Uptake Inhibitors Phase 2
19 Dopamine Uptake Inhibitors Phase 2
20 Muscarinic Antagonists Phase 2
21 Central Nervous System Stimulants Phase 2
22 Adrenergic Agents Phase 2
23 Adrenergic beta-1 Receptor Antagonists Phase 2
24 Adrenergic beta-Antagonists Phase 2
25 Adrenergic Antagonists Phase 2
26 Olive Phase 2
27 Epidiolex Phase 2
28
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
29
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Not Applicable 53-43-0 9860744
30 Immunologic Factors Not Applicable
31 DHEA (Dehydroepiandrosterone) Not Applicable
32 Adjuvants, Immunologic Not Applicable
33 Androgens Not Applicable
34 Natriuretic Agents
35 Natriuretic Peptide, C-Type
36 Endorphins Not Applicable
37 Anti-Bacterial Agents
38 Anti-Infective Agents
39 Antibiotics, Antitubercular
40 Antitubercular Agents

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 A Controlled Trial of Serotonin Reuptake Inhibitors Added to Stimulant Medication in Youth With Severe Mood Dysregulation Completed NCT00794040 Phase 2 Add-on citalopram following optimized methylphenidate;Add-on placebo following optimized methylphenidate
2 Esmolol to Control Adrenergic Storm in Septic Shock- ROLL-IN 2 Recruiting NCT03208257 Phase 2 Esmolol
3 The Effect of Cannabis on Dementia Related Agitation and Aggression Recruiting NCT03328676 Phase 2 Cannabis;Placebo oil
4 Dehydroepiandrosterone (DHEA) Treatment in Women and Men Experiencing Hypoactive Sexual Desire Disorder Unknown status NCT00916396 Not Applicable Dehydroepiandrosterone;placebo
5 Exercise Training Effects in Patients With Heart Failure Unknown status NCT01071629 Not Applicable
6 Effects of a Moisturizing Product on Dry Eye and Skin Completed NCT02683382 Not Applicable
7 A Study to Assess Benign Joint Hypermobility Syndrome in Children With a History of Wheezing or Asthma Completed NCT02163096
8 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
9 Brain Mechanisms Underlying Reading Improvement in Central Alexia Completed NCT02062619 Not Applicable
10 Can Acupuncture Treat Post-stroke Depression? Completed NCT02644161 Not Applicable Antidepressant
11 Natural History and Biospecimen Acquisition for Children and Adults With Rare Solid Tumors Recruiting NCT03739827
12 Tumor and Development (TED) Recruiting NCT01915797
13 Metabolism, Muscle Function and Psychological Factors in Fibromyalgia Recruiting NCT03300635 Not Applicable
14 Transcranial Magnetic Stimulation and Hyperbaric Chamber for Women Fibromyalgia Recruiting NCT03801109 Not Applicable
15 Validating Pain Scales in Children and Young Adults Recruiting NCT01639950
16 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
17 Effect of Emergency Department Care Reorganization on Door-to-antibiotic Times for Sepsis (LDS SWARM) Active, not recruiting NCT03226366
18 Metabolic and Structural Characterization of Hub's Vulnerability in Neurological Diseases Assessed by Ultra High Field Structural and Functional MRI Not yet recruiting NCT03039166 Not Applicable

Search NIH Clinical Center for Tumor Predisposition Syndrome

Genetic Tests for Tumor Predisposition Syndrome

Anatomical Context for Tumor Predisposition Syndrome

MalaCards organs/tissues related to Tumor Predisposition Syndrome:

42
Skin, Brain, Eye, Ovary

Publications for Tumor Predisposition Syndrome

Articles related to Tumor Predisposition Syndrome:

(show all 32)
# Title Authors Year
1
Basal cell carcinomas developing independently from BAP1-tumor predisposition syndrome in a patient with bilateral uveal melanoma: Diagnostic challenges to identify patients with BAP1-TPDS. ( 30578689 )
2019
2
Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1. ( 30945057 )
2019
3
BRCA1-Associated Protein-1 Tumor Predisposition Syndrome in a Patient With Numerous Basal Cell Carcinomas. ( 29757857 )
2019
4
Commentary on BRCA1-Associated Protein-1 Tumor Predisposition Syndrome in a Patient With Numerous Basal Cell Carcinomas. ( 30681422 )
2019
5
Transcultural adaptation and validation of the Tilburg Pregnancy Distress Scale (TPDS) in the Brazilian cultural context. ( 31071587 )
2019
6
Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome. ( 29061454 )
2018
7
GROWTH OF PRESUMED CHOROIDAL NEVUS INTO MELANOMA OVER 4 YEARS IN BAP1 TUMOR PREDISPOSITION SYNDROME. ( 29994997 )
2018
8
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1. ( 29779243 )
2018
9
Consequences of diagnosing a tumor predisposition syndrome in children with cancer: A literature review. ( 28834056 )
2018
10
Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome. ( 29512865 )
2018
11
Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients. ( 29761599 )
2018
12
DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations. ( 27830405 )
2017
13
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome. ( 28620006 )
2017
14
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor. ( 28722703 )
2017
15
Rhabdoid Tumor Predisposition Syndrome and Pleuropulmonary Blastoma Syndrome. ( 27617153 )
2016
16
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. ( 26096145 )
2016
17
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. ( 26342593 )
2016
18
Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome. ( 26698637 )
2015
19
Rhabdoid tumor predisposition syndrome. ( 25494491 )
2015
20
Psychometric evaluation of the Tilburg Pregnancy Distress Scale-Turkish version (TPDS-T). ( 24810517 )
2015
21
Ciliary body medulloepithelioma association with pleuropulmonary blastoma in a familial tumor predisposition syndrome. ( 25032694 )
2014
22
DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. ( 25356068 )
2014
23
Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). ( 24123847 )
2014
24
The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment. ( 24855403 )
2014
25
Germline BAP1 mutations predispose to renal cell carcinomas. ( 23684012 )
2013
26
DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. ( 22180160 )
2012
27
Germline BAP1 mutations predispose to malignant mesothelioma. ( 21874000 )
2011
28
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. ( 21941004 )
2011
29
Development of the Tilburg Pregnancy Distress Scale: the TPDS. ( 22029691 )
2011
30
Germline mutations in BAP1 predispose to melanocytic tumors. ( 21874003 )
2011
31
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. ( 20137775 )
2010
32
Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. ( 16206192 )
2006

Variations for Tumor Predisposition Syndrome

ClinVar genetic disease variations for Tumor Predisposition Syndrome:

6 (show top 50) (show all 755)
# 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 BRCA2 NM_000059.3(BRCA2): c.10095delCins11 (p.?) indel Benign GRCh37 Chromosome 13, 32972745: 32972745
24 BRCA2 NM_000059.3(BRCA2): c.10095delCins11 (p.?) indel Benign GRCh38 Chromosome 13, 32398608: 32398608
25 BAP1 NM_004656.3(BAP1): c.905C> T (p.Pro302Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149158790 GRCh37 Chromosome 3, 52439807: 52439807
26 BAP1 NM_004656.3(BAP1): c.905C> T (p.Pro302Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149158790 GRCh38 Chromosome 3, 52405791: 52405791
27 BAP1 NM_004656.3(BAP1): c.1408G> A (p.Gly470Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs576538858 GRCh37 Chromosome 3, 52437753: 52437753
28 BAP1 NM_004656.3(BAP1): c.1408G> A (p.Gly470Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs576538858 GRCh38 Chromosome 3, 52403737: 52403737
29 BAP1 NM_004656.3(BAP1): c.1786A> G (p.Ser596Gly) single nucleotide variant Benign rs79014342 GRCh37 Chromosome 3, 52437258: 52437258
30 BAP1 NM_004656.3(BAP1): c.1786A> G (p.Ser596Gly) single nucleotide variant Benign rs79014342 GRCh38 Chromosome 3, 52403242: 52403242
31 BAP1 NM_004656.3(BAP1): c.1838C> T (p.Thr613Met) single nucleotide variant Benign/Likely benign rs35448940 GRCh37 Chromosome 3, 52437206: 52437206
32 BAP1 NM_004656.3(BAP1): c.1838C> T (p.Thr613Met) single nucleotide variant Benign/Likely benign rs35448940 GRCh38 Chromosome 3, 52403190: 52403190
33 BAP1 NM_004656.3(BAP1): c.1735G> A (p.Gly579Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs370004702 GRCh37 Chromosome 3, 52437309: 52437309
34 BAP1 NM_004656.3(BAP1): c.1735G> A (p.Gly579Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs370004702 GRCh38 Chromosome 3, 52403293: 52403293
35 BAP1 NM_004656.3(BAP1): c.121G> A (p.Gly41Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs372586694 GRCh37 Chromosome 3, 52443571: 52443571
36 BAP1 NM_004656.3(BAP1): c.121G> A (p.Gly41Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs372586694 GRCh38 Chromosome 3, 52409555: 52409555
37 BRIP1 NM_032043.2(BRIP1): c.262_264delTGT (p.Cys88del) deletion Uncertain significance rs587781388 GRCh37 Chromosome 17, 59934534: 59934536
38 BRIP1 NM_032043.2(BRIP1): c.262_264delTGT (p.Cys88del) deletion Uncertain significance rs587781388 GRCh38 Chromosome 17, 61857173: 61857175
39 PMS2 NM_000535.7(PMS2): c.1438G> C (p.Gly480Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146848345 GRCh37 Chromosome 7, 6026958: 6026958
40 PMS2 NM_000535.7(PMS2): c.1438G> C (p.Gly480Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146848345 GRCh38 Chromosome 7, 5987327: 5987327
41 MRE11 NM_005591.3(MRE11): c.1960_1979dup20 (p.Lys661Thrfs) duplication Pathogenic/Likely pathogenic rs587781442 GRCh37 Chromosome 11, 94169013: 94169032
42 MRE11 NM_005591.3(MRE11): c.1960_1979dup20 (p.Lys661Thrfs) duplication Pathogenic/Likely pathogenic rs587781442 GRCh38 Chromosome 11, 94435847: 94435866
43 PALB2 NM_024675.3(PALB2): c.226delA (p.Ile76Tyrfs) deletion Pathogenic/Likely pathogenic rs587782443 GRCh37 Chromosome 16, 23647641: 23647641
44 PALB2 NM_024675.3(PALB2): c.226delA (p.Ile76Tyrfs) deletion Pathogenic/Likely pathogenic rs587782443 GRCh38 Chromosome 16, 23636320: 23636320
45 PALB2 NM_024675.3(PALB2): c.2931dupA (p.Val978Serfs) duplication Pathogenic rs587782570 GRCh37 Chromosome 16, 23634355: 23634355
46 PALB2 NM_024675.3(PALB2): c.2931dupA (p.Val978Serfs) duplication Pathogenic rs587782570 GRCh38 Chromosome 16, 23623034: 23623034
47 PMS2 NM_000535.5(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs) deletion Pathogenic rs587782710 GRCh37 Chromosome 7, 6037007: 6037014
48 PMS2 NM_000535.5(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs) deletion Pathogenic rs587782710 GRCh38 Chromosome 7, 5997376: 5997383
49 PTEN NM_000314.7(PTEN): c.527A> G (p.Tyr176Cys) single nucleotide variant Uncertain significance rs757498880 GRCh37 Chromosome 10, 89711909: 89711909
50 PTEN NM_000314.7(PTEN): c.527A> G (p.Tyr176Cys) single nucleotide variant Uncertain significance rs757498880 GRCh38 Chromosome 10, 87952152: 87952152

Cosmic variations for Tumor Predisposition Syndrome:

9 (show top 50) (show all 14685)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM7410942 ZSWIM8 lung,NS,carcinoma,adenocarcinoma c.2505G>A p.G835G 10:73799190-73799190 0
2 COSM7411331 ZSWIM5 lung,NS,carcinoma,adenocarcinoma c.2363C>A p.P788H 1:45034398-45034398 0
3 COSM6926570 ZRSR2 lung,NS,carcinoma,adenocarcinoma c.937+1G>T p.? 23:15820317-15820317 0
4 COSM7411164 ZPBP lung,NS,carcinoma,adenocarcinoma c.966C>G p.I322M 7:49937618-49937618 0
5 COSM7411425 ZPBP lung,NS,carcinoma,adenocarcinoma c.706G>T p.V236F 7:50031092-50031092 0
6 COSM2768407 ZNF800 lung,NS,carcinoma,adenocarcinoma c.1606C>T p.R536* 7:127373730-127373730 0
7 COSM7411930 ZNF687 lung,NS,carcinoma,adenocarcinoma c.2361C>G p.H787Q 1:151289161-151289161 0
8 COSM7411692 ZNF608 lung,NS,carcinoma,adenocarcinoma c.2023G>A p.V675I 5:124648361-124648361 0
9 COSM7412390 ZNF536 lung,NS,carcinoma,adenocarcinoma c.2770A>T p.S924C 19:30548389-30548389 0
10 COSM1388126 ZNF521 lung,NS,carcinoma,adenocarcinoma c.2365G>A p.G789S 18:25225553-25225553 0
11 COSM7411528 ZNF423 lung,NS,carcinoma,adenocarcinoma c.1122C>T p.S374S 16:49638030-49638030 0
12 COSM7411524 ZNF423 lung,NS,carcinoma,adenocarcinoma c.1436C>T p.A479V 16:49637716-49637716 0
13 COSM7411526 ZNF423 lung,NS,carcinoma,adenocarcinoma c.1157C>T p.S386F 16:49637995-49637995 0
14 COSM7411530 ZNF423 lung,NS,carcinoma,adenocarcinoma c.634C>A p.H212N 16:49638518-49638518 0
15 COSM3712145 ZNF423 lung,NS,carcinoma,adenocarcinoma c.609C>G p.F203L 16:49638543-49638543 0
16 COSM7411916 ZNF326 lung,NS,carcinoma,adenocarcinoma c.544G>A p.E182K 1:90007679-90007679 0
17 COSM48853 ZMYND10 lung,NS,carcinoma,adenocarcinoma c.622C>T p.R208C 3:50342996-50342996 0
18 COSM48854 ZMYND10 lung,NS,carcinoma,adenocarcinoma c.128A>G p.N43S 3:50345197-50345197 0
19 COSM95558 ZMYM2 lung,NS,carcinoma,adenocarcinoma c.95G>A p.G32E 13:19993167-19993167 0
20 COSM7412277 ZIC5 lung,NS,carcinoma,adenocarcinoma c.1583G>A p.C528Y 13:99965786-99965786 0
21 COSM7411445 ZHX1 lung,NS,carcinoma,adenocarcinoma c.1640C>T p.T547M 8:123254307-123254307 0
22 COSM7411890 ZFX lung,NS,carcinoma,adenocarcinoma c.919C>T p.Q307* 23:24207834-24207834 0
23 COSM6975161 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.5985C>G p.I1995M 16:72796697-72796697 0
24 COSM6967535 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.3070G>T p.A1024S 16:72950615-72950615 0
25 COSM6933870 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.3763C>T p.P1255S 16:72811678-72811678 0
26 COSM6926444 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.10766C>G p.S3589C 16:72787510-72787510 0
27 COSM6933260 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.256G>T p.A86S 16:72959890-72959890 0
28 COSM6950021 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2135G>T p.R712L 16:72958011-72958011 0
29 COSM6972801 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2680G>T p.D894Y 16:72957466-72957466 0
30 COSM6982281 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2701G>A p.A901T 16:72957445-72957445 0
31 COSM6937412 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1775A>C p.D592A 16:72958371-72958371 0
32 COSM6969901 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.10802C>T p.S3601L 16:72787474-72787474 0
33 COSM6931279 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1530G>T p.E510D 16:72958616-72958616 0
34 COSM6964729 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.5670G>C p.Q1890H 16:72797012-72797012 0
35 COSM6935718 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.10628C>A p.A3543D 16:72787648-72787648 0
36 COSM6929247 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.8677G>C p.G2893R 16:72794005-72794005 0
37 COSM6945078 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2755G>T p.G919C 16:72950930-72950930 0
38 COSM6935881 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1352G>T p.C451F 16:72958794-72958794 0
39 COSM6940635 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.6289T>G p.F2097V 16:72796393-72796393 0
40 COSM6969446 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.628G>T p.G210C 16:72959518-72959518 0
41 COSM6926443 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.10885C>G p.P3629A 16:72787391-72787391 0
42 COSM6968693 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2767G>T p.V923L 16:72950918-72950918 0
43 COSM6962405 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.10961C>T p.S3654L 16:72787315-72787315 0
44 COSM6970007 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.3340C>G p.R1114G 16:72889839-72889839 0
45 COSM6977567 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.4834G>C p.E1612Q 16:72797848-72797848 0
46 COSM5796563 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.445C>T p.Q149* 16:72959701-72959701 0
47 COSM6966467 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.5788T>C p.S1930P 16:72796894-72796894 0
48 COSM6970295 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1910G>A p.G637E 16:72958236-72958236 0
49 COSM6968715 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.8982C>G p.F2994L 16:72793700-72793700 0
50 COSM6145051 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.562G>T p.A188S 16:72959584-72959584 0

Expression for Tumor Predisposition Syndrome

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

Pathways for Tumor Predisposition Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 BAP1 BRCA2 MRE11 PALB2 PMS2
2 12.08 BRCA2 MRE11 SMARCA4
3
Show member pathways
11.88 BRCA2 MRE11 PALB2
4 11.73 BRCA2 MRE11 SMARCA4
5
Show member pathways
11.68 BRCA2 MRE11 PALB2
6
Show member pathways
11.32 SMARCA4 SMARCB1
7 11.2 SMARCA4 SMARCB1
8 11.1 BRCA2 PALB2 PMS2
9
Show member pathways
10.84 BRCA2 MRE11 SMARCA4 SMARCB1
10
Show member pathways
10.46 DICER1 MRE11

GO Terms for Tumor Predisposition Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.92 BAP1 BRCA2 DICER1 MRE11 PALB2 PMS2
2 nucleoplasm GO:0005654 9.7 BAP1 BRCA2 MRE11 PALB2 PMS2 SMARCA4
3 SWI/SNF complex GO:0016514 9.26 SMARCA4 SMARCB1
4 nBAF complex GO:0071565 8.96 SMARCA4 SMARCB1
5 npBAF complex GO:0071564 8.62 SMARCA4 SMARCB1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.73 BRCA2 MRE11 PALB2 PMS2
2 chromatin organization GO:0006325 9.7 BAP1 SMARCA4 SMARCB1
3 DNA repair GO:0006281 9.56 BRCA2 MRE11 PALB2 PMS2
4 double-strand break repair GO:0006302 9.54 BRCA2 MRE11
5 DNA recombination GO:0006310 9.54 BRCA2 MRE11 PALB2
6 ATP-dependent chromatin remodeling GO:0043044 9.51 SMARCA4 SMARCB1
7 chromosome organization GO:0051276 9.49 BRCA2 MRE11
8 nucleosome disassembly GO:0006337 9.48 SMARCA4 SMARCB1
9 positive regulation by host of viral transcription GO:0043923 9.46 SMARCA4 SMARCB1
10 inner cell mass cell proliferation GO:0001833 9.4 BRCA2 PALB2
11 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.32 SMARCA4 SMARCB1
12 RNA polymerase I preinitiation complex assembly GO:0001188 9.16 SMARCA4 SMARCB1
13 double-strand break repair via homologous recombination GO:0000724 9.13 BRCA2 MRE11 PALB2
14 positive regulation of glucose mediated signaling pathway GO:1902661 8.62 SMARCA4 SMARCB1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.8 BRCA2 DICER1 MRE11 PALB2 PMS2 SMARCB1
2 hydrolase activity GO:0016787 9.77 BAP1 DICER1 MRE11 PMS2 SMARCA4
3 p53 binding GO:0002039 9.46 SMARCA4 SMARCB1
4 nucleosomal DNA binding GO:0031492 9.43 SMARCA4 SMARCB1
5 nuclease activity GO:0004518 9.43 DICER1 MRE11 PMS2
6 Tat protein binding GO:0030957 9.16 SMARCA4 SMARCB1
7 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 8.96 SMARCA4 SMARCB1
8 endonuclease activity GO:0004519 8.8 DICER1 MRE11 PMS2
9 protein binding GO:0005515 10.06 BAP1 BRCA2 DERL3 DICER1 MRE11 PALB2

Sources for Tumor Predisposition Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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