TPDS
MCID: TMR010
MIFTS: 49

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 57 75 13 73
Tpds 57 75
Tumor Susceptibility Linked to Germline Bap1 Mutations 59
Bap1-Related Tumor Predisposition Syndrome 59
Syndrome, Tumor Predisposition 40

Characteristics:

Orphanet epidemiological data:

59
bap1-related tumor predisposition syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
tumor predisposition syndrome


HPO:

32
tumor predisposition syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Tumor Predisposition Syndrome

OMIM : 57 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 lung, skin and brain, and related phenotypes are lung adenocarcinoma and renal cell carcinoma

UniProtKB/Swiss-Prot : 75 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 all 48)
# Related Disease Score Top Affiliating Genes
1 rhabdoid tumor predisposition syndrome 1 34.0 DERL3 SMARCB1
2 atypical teratoid rhabdoid tumor 33.2 SMARCA4 SMARCB1
3 rhabdoid cancer 32.8 SMARCA4 SMARCB1
4 bap1 tumor predisposition syndrome 12.6
5 rhabdoid tumor predisposition syndrome 2 12.5
6 pleuropulmonary blastoma 11.3
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 10.2 SMARCA4 SMARCB1
15 rhabdoid meningioma 10.1 BAP1 SMARCB1
16 testicular granulosa cell tumor 10.1 DICER1 SMARCA4
17 schwannomatosis 1 10.1 DERL3 SMARCB1
18 juvenile type testicular granulosa cell tumor 10.1 DICER1 SMARCA4
19 ocular melanoma 10.1 BAP1 BRCA2
20 borjeson-forssman-lehmann syndrome 10.1 SMARCA4 SMARCB1
21 pleural disease 10.0 BAP1 DICER1
22 dysgerminoma of ovary 10.0 BRCA2 DICER1
23 breast giant fibroadenoma 10.0 BRCA2 PMS2
24 coffin-siris syndrome 1 10.0 SMARCA4 SMARCB1
25 tracheoesophageal fistula 10.0 BRCA2 PALB2
26 osteoporosis 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 tracheoesophageal fistula with or without esophageal atresia 10.0 BRCA2 PALB2
33 isolated tracheoesophageal fistula 10.0 BRCA2 PALB2
34 lynch syndrome i 10.0 BRCA2 PMS2
35 pancreatic neuroendocrine tumor 10.0 BRCA2 PALB2
36 fanconi anemia, complementation group n 10.0 BRCA2 PALB2
37 bilateral breast cancer 10.0 BRCA2 PALB2
38 hypertrichosis 9.9 SMARCA4 SMARCB1
39 peritoneum cancer 9.9 BAP1 BRCA2 PALB2
40 female breast cancer 9.9 BRCA2 PALB2
41 brain cancer 9.8 BRCA2 PMS2 SMARCB1
42 costello syndrome 9.7
43 melanoma 9.7
44 neurofibrosarcoma 9.7
45 medulloepithelioma 9.7
46 malignant peripheral nerve sheath tumor 9.7
47 hereditary breast ovarian cancer syndrome 9.7 BRCA2 MRE11 PALB2
48 fanconi anemia, complementation group a 9.7 BRCA2 MRE11 PALB2

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



Diseases related to Tumor Predisposition Syndrome

Symptoms & Phenotypes for Tumor Predisposition Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Tumor Predisposition Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 lung adenocarcinoma 32 HP:0030078
2 renal cell carcinoma 32 HP:0005584
3 meningioma 32 HP:0002858
4 cutaneous melanoma 32 HP:0012056
5 uveal melanoma 32 HP:0007716

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

26
# 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:

46 (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 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
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 Peripheral Nervous System Agents Phase 2
6 Neurotransmitter Uptake Inhibitors Phase 2
7 Cholinergic Agents Phase 2
8 Central Nervous System Stimulants Phase 2
9 Cholinergic Antagonists Phase 2
10 Psychotropic Drugs Phase 2,Not Applicable
11 Antiparkinson Agents Phase 2
12 Parasympatholytics Phase 2
13 Antidepressive Agents, Second-Generation Phase 2
14 Dopamine Uptake Inhibitors Phase 2
15 Muscarinic Antagonists Phase 2
16 Neurotransmitter Agents Phase 2
17 Antidepressive Agents Phase 2,Not Applicable
18 Serotonin Uptake Inhibitors Phase 2
19 Serotonin Agents Phase 2
20 Autonomic Agents Phase 2
21 Dopamine Agents Phase 2
22 Adrenergic beta-Antagonists Phase 2
23 Adrenergic beta-1 Receptor Antagonists Phase 2
24 Adrenergic Antagonists Phase 2
25 Adrenergic Agents Phase 2
26 Olive Phase 2
27
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
28
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Not Applicable 53-43-0 5881
29 Adjuvants, Immunologic Not Applicable
30 DHEA (Dehydroepiandrosterone) Not Applicable
31 Immunologic Factors Not Applicable
32 Androgens Not Applicable
33 Natriuretic Agents
34 Natriuretic Peptide, C-Type
35 Anti-Infective Agents
36 Antitubercular Agents
37 Anti-Bacterial Agents
38 Antibiotics, Antitubercular

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 Citalopram;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 Tumor and Development (TED) Recruiting NCT01915797
11 Metabolism, Muscle Function and Psychological Factors in Fibromyalgia Recruiting NCT03300635 Not Applicable
12 Transcranial Magnetic Stimulation and Hyperbaric Chamber for Women Fibromyalgia Recruiting NCT03801109 Not Applicable
13 Validating Pain Scales in Children and Young Adults Recruiting NCT01639950
14 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
15 Effect of Emergency Department Care Reorganization on Door-to-antibiotic Times for Sepsis (LDS SWARM) Active, not recruiting NCT03226366
16 Can Acupuncture Treat Post-stroke Depression? Active, not recruiting NCT02644161 Not Applicable Antidepressant
17 Natural History and Biospecimen Acquisition for Children and Adults With Rare Solid Tumors Not yet recruiting NCT03739827
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:

41
Lung, Skin, Brain, Ovary

Publications for Tumor Predisposition Syndrome

Articles related to Tumor Predisposition Syndrome:

(show all 26)
# Title Authors Year
1
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1. ( 29779243 )
2018
2
BRCA1-Associated Protein-1 Tumor Predisposition Syndrome in a Patient With Numerous Basal Cell Carcinomas. ( 29757857 )
2018
3
Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome. ( 29512865 )
2018
4
Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome. ( 29061454 )
2018
5
Analysis of the Exome Aggregation Consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients. ( 29761599 )
2018
6
GROWTH OF PRESUMED CHOROIDAL NEVUS INTO MELANOMA OVER 4 YEARS IN BAP1 TUMOR PREDISPOSITION SYNDROME. ( 29994997 )
2018
7
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor. ( 28722703 )
2017
8
Consequences of diagnosing a tumor predisposition syndrome in children with cancer: A literature review. ( 28834056 )
2017
9
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome. ( 28620006 )
2017
10
Rhabdoid Tumor Predisposition Syndrome and Pleuropulmonary Blastoma Syndrome. ( 27617153 )
2016
11
DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations. ( 27830405 )
2016
12
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. ( 26342593 )
2015
13
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. ( 26096145 )
2015
14
Rhabdoid tumor predisposition syndrome. ( 25494491 )
2015
15
Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome. ( 26698637 )
2015
16
Psychometric evaluation of the Tilburg Pregnancy Distress Scale-Turkish version (TPDS-T). ( 24810517 )
2015
17
Ciliary body medulloepithelioma association with pleuropulmonary blastoma in a familial tumor predisposition syndrome. ( 25032694 )
2014
18
DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. ( 25356068 )
2014
19
The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment. ( 24855403 )
2014
20
Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). ( 24123847 )
2013
21
DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. ( 22180160 )
2012
22
Development of the Tilburg Pregnancy Distress Scale: the TPDS. ( 22029691 )
2011
23
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. ( 20137775 )
2010
24
Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. ( 16206192 )
2006
25
Rhabdoid Tumor Predisposition Syndrome ( 29215836 )
1993
26
BAP1 Tumor Predisposition Syndrome ( 27748099 )
1993

Variations for Tumor Predisposition Syndrome

ClinVar genetic disease variations for Tumor Predisposition Syndrome:

6 (show top 50) (show all 751)
# 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 rs276174803 GRCh37 Chromosome 13, 32972745: 32972745
24 BRCA2 NM_000059.3(BRCA2): c.10095delCins11 (p.?) indel Benign rs276174803 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 Uncertain significance rs576538858 GRCh37 Chromosome 3, 52437753: 52437753
28 BAP1 NM_004656.3(BAP1): c.1408G> A (p.Gly470Arg) single nucleotide variant Uncertain significance 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 Uncertain significance rs370004702 GRCh37 Chromosome 3, 52437309: 52437309
34 BAP1 NM_004656.3(BAP1): c.1735G> A (p.Gly579Arg) single nucleotide variant Uncertain significance 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_000535.6(PMS2): c.1438G> C (p.Gly480Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146848345 GRCh37 Chromosome 7, 6026958: 6026958
40 PMS2 NM_000535.6(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_000535.6(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs) deletion Pathogenic rs587782710 GRCh37 Chromosome 7, 6037007: 6037014
48 PMS2 NM_000535.6(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs) deletion Pathogenic rs587782710 GRCh38 Chromosome 7, 5997376: 5997383
49 PTEN NM_000314.6(PTEN): c.527A> G (p.Tyr176Cys) single nucleotide variant Uncertain significance rs757498880 GRCh37 Chromosome 10, 89711909: 89711909
50 PTEN NM_000314.6(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 13376)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6926570 ZRSR2 lung,NS,carcinoma,adenocarcinoma c.937+1G>T p.? 23:15820317-15820317 5
2 COSM48853 ZMYND10 lung,NS,carcinoma,adenocarcinoma c.622C>T p.R208C 3:50342996-50342996 5
3 COSM48854 ZMYND10 lung,NS,carcinoma,adenocarcinoma c.128A>G p.N43S 3:50345197-50345197 5
4 COSM95558 ZMYM2 lung,NS,carcinoma,adenocarcinoma c.95G>A p.G32E 13:19993167-19993167 5
5 COSM6145051 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.562G>T p.A188S 16:72959584-72959584 5
6 COSM6978013 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1855C>G p.H619D 16:72958291-72958291 5
7 COSM6956103 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2437A>T p.T813S 16:72957709-72957709 5
8 COSM6826441 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.941G>A p.R314Q 16:72959205-72959205 5
9 COSM6975161 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.5985C>G p.I1995M 16:72796697-72796697 5
10 COSM6932802 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2842G>T p.A948S 16:72950843-72950843 5
11 COSM6954614 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.6293C>T p.S2098L 16:72796389-72796389 5
12 COSM6967535 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.3070G>T p.A1024S 16:72950615-72950615 5
13 COSM6933870 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.3763C>T p.P1255S 16:72811678-72811678 5
14 COSM6926444 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.10766C>G p.S3589C 16:72787510-72787510 5
15 COSM6933260 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.256G>T p.A86S 16:72959890-72959890 5
16 COSM6950021 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2135G>T p.R712L 16:72958011-72958011 5
17 COSM6965155 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.331G>A p.E111K 16:72959815-72959815 5
18 COSM6972801 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2680G>T p.D894Y 16:72957466-72957466 5
19 COSM6982281 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2701G>A p.A901T 16:72957445-72957445 5
20 COSM6937412 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1775A>C p.D592A 16:72958371-72958371 5
21 COSM6969901 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.10802C>T p.S3601L 16:72787474-72787474 5
22 COSM6964729 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.5670G>C p.Q1890H 16:72797012-72797012 5
23 COSM6931279 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1530G>T p.E510D 16:72958616-72958616 5
24 COSM6935718 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.10628C>A p.A3543D 16:72787648-72787648 5
25 COSM6929247 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.8677G>C p.G2893R 16:72794005-72794005 5
26 COSM6945078 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2755G>T p.G919C 16:72950930-72950930 5
27 COSM6935881 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1352G>T p.C451F 16:72958794-72958794 5
28 COSM6940635 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.6289T>G p.F2097V 16:72796393-72796393 5
29 COSM6969446 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.628G>T p.G210C 16:72959518-72959518 5
30 COSM6968693 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2767G>T p.V923L 16:72950918-72950918 5
31 COSM6926443 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.10885C>G p.P3629A 16:72787391-72787391 5
32 COSM6962405 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.10961C>T p.S3654L 16:72787315-72787315 5
33 COSM6970007 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.3340C>G p.R1114G 16:72889839-72889839 5
34 COSM6977567 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.4834G>C p.E1612Q 16:72797848-72797848 5
35 COSM5796563 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.445C>T p.Q149* 16:72959701-72959701 5
36 COSM6966467 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.5788T>C p.S1930P 16:72796894-72796894 5
37 COSM6970295 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1910G>A p.G637E 16:72958236-72958236 5
38 COSM6968715 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.8982C>G p.F2994L 16:72793700-72793700 5
39 COSM6982440 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1582C>T p.Q528* 16:72958564-72958564 5
40 COSM6983995 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.7133C>G p.T2378S 16:72795549-72795549 5
41 COSM6962938 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.4181C>A p.S1394* 16:72798501-72798501 5
42 COSM6937443 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.7769C>G p.S2590C 16:72794913-72794913 5
43 COSM6953061 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.10994A>T p.D3665V 16:72787282-72787282 5
44 COSM6953714 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.3431G>T p.C1144F 16:72889748-72889748 5
45 COSM6969956 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.527G>T p.G176V 16:72959619-72959619 5
46 COSM4062722 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.2486T>C p.M829T 16:72957660-72957660 5
47 COSM6939807 ZFHX3 lung,NS,carcinoma,adenocarcinoma c.1408G>T p.E470* 16:72958738-72958738 5
48 COSM48850 ZAP70 lung,NS,carcinoma,adenocarcinoma c.1484C>T p.A495V 2:97737758-97737758 5
49 COSM95551 YWHAE lung,NS,carcinoma,adenocarcinoma c.146A>G p.Y49C 17:1364977-1364977 5
50 COSM48846 YES1 lung,NS,carcinoma,adenocarcinoma c.473G>T p.W158L 18:746049-746049 5

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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