MCID: TMR010
MIFTS: 44

Tumor Predisposition Syndrome

Categories: Genetic diseases, Rare 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:



External Ids:

OMIM 57 614327
Orphanet 59 ORPHA289539
MedGen 42 C3280492
MeSH 44 D009386
UMLS 73 C3280492

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. Affiliated tissues include lung and skin, and related phenotypes are meningioma and intraocular melanoma

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 42)
# Related Disease Score Top Affiliating Genes
1 rhabdoid tumor predisposition syndrome 1 34.3 DERL3 SMARCB1
2 atypical teratoid rhabdoid tumor 33.3 SMARCA4 SMARCB1
3 bap1 tumor predisposition syndrome 30.6 BAP1 BRCA2 MRE11 PALB2 PMS2
4 rhabdoid tumor predisposition syndrome 2 12.3
5 rhabdoid cancer 11.6
6 pleuropulmonary blastoma 11.2
7 dicer1-related disorders 10.9
8 diaphyseal medullary stenosis with malignant fibrous histiocytoma 10.8
9 hereditary leiomyomatosis and renal cell cancer 10.8
10 mesothelioma, malignant 10.8
11 meningioma, familial 10.8
12 schwannomatosis 2 10.8
13 familial adenomatous polyposis 4 10.8
14 central nervous system sarcoma 10.5 SMARCA4 SMARCB1
15 coffin-siris syndrome 1 10.4 SMARCA4 SMARCB1
16 testicular granulosa cell tumor 10.4 DICER1 SMARCA4
17 juvenile type testicular granulosa cell tumor 10.4 DICER1 SMARCA4
18 borjeson-forssman-lehmann syndrome 10.4 SMARCA4 SMARCB1
19 ocular melanoma 10.1 BAP1 BRCA2
20 peritoneum cancer 10.1 BAP1 BRCA2
21 hypertrichosis 10.0 SMARCA4 SMARCB1
22 tracheoesophageal fistula with or without esophageal atresia 10.0 BRCA2 PALB2
23 oral squamous cell carcinoma 9.9
24 squamous cell carcinoma 9.9
25 dysgerminoma of ovary 9.9 BRCA2 DICER1
26 female breast cancer 9.8 BRCA2 PALB2
27 ocular cancer 9.8 BAP1 BRCA2
28 neurofibroma 9.8
29 tracheoesophageal fistula 9.7 BRCA2 PALB2
30 basal cell carcinoma 1 9.6
31 basal cell carcinoma 9.6
32 embryonal rhabdomyosarcoma 9.6
33 rhabdomyosarcoma 9.6
34 neurofibrosarcoma 9.6
35 medulloepithelioma 9.6
36 malignant peripheral nerve sheath tumor 9.6
37 breast giant fibroadenoma 9.5 BRCA2 PMS2
38 lynch syndrome i 9.5 BRCA2 PMS2
39 hereditary breast ovarian cancer syndrome 9.4 BRCA2 MRE11 PALB2
40 fanconi anemia, complementation group a 9.3 BRCA2 MRE11 PALB2
41 brain cancer 9.1 BRCA2 PMS2 SMARCB1
42 female reproductive organ cancer 8.9 BRCA2 PMS2

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
Head And Neck Eyes:
uveal melanoma

Skin Nails Hair Skin:
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)
cutaneous melanoma

Neurologic Central Nervous System:
meningioma

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

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

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


Clinical features from OMIM:

614327

Human phenotypes related to Tumor Predisposition Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 meningioma 32 HP:0002858
2 intraocular melanoma 32 HP:0007716
3 cutaneous melanoma 32 HP:0012056
4 lung adenocarcinoma 32 HP:0030078

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 DICER1 MRE11 PALB2 PMS2 SMARCA4 SMARCB1
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 SMARCA4 BAP1 BRCA2 DICER1 PALB2
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tumor and Development (TED) Recruiting NCT01915797
2 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for 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

Publications for Tumor Predisposition Syndrome

Articles related to Tumor Predisposition Syndrome:

(show all 22)
# 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
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor. ( 28722703 )
2017
6
Consequences of diagnosing a tumor predisposition syndrome in children with cancer: A literature review. ( 28834056 )
2017
7
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome. ( 28620006 )
2017
8
Rhabdoid Tumor Predisposition Syndrome and Pleuropulmonary Blastoma Syndrome. ( 27617153 )
2016
9
DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations. ( 27830405 )
2016
10
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. ( 26342593 )
2015
11
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. ( 26096145 )
2015
12
Rhabdoid tumor predisposition syndrome. ( 25494491 )
2015
13
Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome. ( 26698637 )
2015
14
Ciliary body medulloepithelioma association with pleuropulmonary blastoma in a familial tumor predisposition syndrome. ( 25032694 )
2014
15
DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. ( 25356068 )
2014
16
The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment. ( 24855403 )
2014
17
Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). ( 24123847 )
2013
18
DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. ( 22180160 )
2012
19
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. ( 20137775 )
2010
20
Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. ( 16206192 )
2006
21
Rhabdoid Tumor Predisposition Syndrome ( 29215836 )
1993
22
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 611)
# Gene Variation Type Significance SNP ID Assembly Location
1 BAP1 NM_004656.3(BAP1): c.1305delG (p.Gln436Asnfs) deletion Pathogenic rs587776877 GRCh37 Chromosome 3, 52437856: 52437856
2 BAP1 NM_004656.3(BAP1): c.1305delG (p.Gln436Asnfs) deletion Pathogenic rs587776877 GRCh38 Chromosome 3, 52403840: 52403840
3 BAP1 NM_004656.3(BAP1): c.2057-2A> G single nucleotide variant Pathogenic rs587776878 GRCh37 Chromosome 3, 52436439: 52436439
4 BAP1 NM_004656.3(BAP1): c.2057-2A> G single nucleotide variant Pathogenic rs587776878 GRCh38 Chromosome 3, 52402423: 52402423
5 BAP1 NM_004656.3(BAP1): c.438-2A> G single nucleotide variant Pathogenic rs587776879 GRCh37 Chromosome 3, 52441334: 52441334
6 BAP1 NM_004656.3(BAP1): c.438-2A> G single nucleotide variant Pathogenic rs587776879 GRCh38 Chromosome 3, 52407318: 52407318
7 BAP1 NM_004656.3(BAP1): c.2050C> T (p.Gln684Ter) single nucleotide variant Pathogenic rs387906848 GRCh37 Chromosome 3, 52436624: 52436624
8 BAP1 NM_004656.3(BAP1): c.2050C> T (p.Gln684Ter) single nucleotide variant Pathogenic rs387906848 GRCh38 Chromosome 3, 52402608: 52402608
9 BAP1 BAP1, 1-BP DEL, 1832C deletion Pathogenic
10 BAP1 BAP1, 4-BP DEL, 2008TCAC deletion Pathogenic
11 BAP1 NM_004656.3(BAP1): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic rs387906849 GRCh37 Chromosome 3, 52439913: 52439913
12 BAP1 NM_004656.3(BAP1): c.799C> T (p.Gln267Ter) single nucleotide variant Pathogenic rs387906849 GRCh38 Chromosome 3, 52405897: 52405897
13 BRCA2 NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs) deletion Pathogenic rs80359406 GRCh37 Chromosome 13, 32912352: 32912352
14 BRCA2 NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs) deletion Pathogenic rs80359406 GRCh38 Chromosome 13, 32338215: 32338215
15 BRCA2 NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter) indel Pathogenic rs276174859 GRCh37 Chromosome 13, 32914101: 32914102
16 BRCA2 NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter) indel Pathogenic rs276174859 GRCh38 Chromosome 13, 32339964: 32339965
17 BAP1 NM_004656.3(BAP1): c.78_79delGG (p.Val27Alafs) deletion Pathogenic rs397509413 GRCh37 Chromosome 3, 52443613: 52443614
18 BAP1 NM_004656.3(BAP1): c.78_79delGG (p.Val27Alafs) deletion Pathogenic rs397509413 GRCh38 Chromosome 3, 52409597: 52409598
19 BAP1 NM_004656.3(BAP1): c.277A> G (p.Thr93Ala) single nucleotide variant Pathogenic rs375129361 GRCh37 Chromosome 3, 52442072: 52442072
20 BAP1 NM_004656.3(BAP1): c.277A> G (p.Thr93Ala) single nucleotide variant Pathogenic rs375129361 GRCh38 Chromosome 3, 52408056: 52408056
21 BAP1 NM_004656.3(BAP1): c.1654delG (p.Asp552Ilefs) deletion Pathogenic rs397509414 GRCh37 Chromosome 3, 52437507: 52437507
22 BAP1 NM_004656.3(BAP1): c.1654delG (p.Asp552Ilefs) deletion Pathogenic rs397509414 GRCh38 Chromosome 3, 52403491: 52403491
23 MRE11 NM_005591.3(MRE11): c.1960_1979dup20 (p.Lys661Thrfs) duplication Pathogenic/Likely pathogenic rs587781442 GRCh37 Chromosome 11, 94169013: 94169032
24 MRE11 NM_005591.3(MRE11): c.1960_1979dup20 (p.Lys661Thrfs) duplication Pathogenic/Likely pathogenic rs587781442 GRCh38 Chromosome 11, 94435847: 94435866
25 PALB2 NM_024675.3(PALB2): c.226delA (p.Ile76Tyrfs) deletion Pathogenic/Likely pathogenic rs587782443 GRCh37 Chromosome 16, 23647641: 23647641
26 PALB2 NM_024675.3(PALB2): c.226delA (p.Ile76Tyrfs) deletion Pathogenic/Likely pathogenic rs587782443 GRCh38 Chromosome 16, 23636320: 23636320
27 PALB2 NM_024675.3(PALB2): c.2931dupA (p.Val978Serfs) duplication Pathogenic rs587782570 GRCh37 Chromosome 16, 23634355: 23634355
28 PALB2 NM_024675.3(PALB2): c.2931dupA (p.Val978Serfs) duplication Pathogenic rs587782570 GRCh38 Chromosome 16, 23623034: 23623034
29 PMS2 NM_000535.6(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs) deletion Pathogenic rs587782710 GRCh37 Chromosome 7, 6037007: 6037014
30 PMS2 NM_000535.6(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs) deletion Pathogenic rs587782710 GRCh38 Chromosome 7, 5997376: 5997383
31 PTEN NM_000314.6(PTEN): c.527A> G (p.Tyr176Cys) single nucleotide variant Uncertain significance rs757498880 GRCh37 Chromosome 10, 89711909: 89711909
32 PTEN NM_000314.6(PTEN): c.527A> G (p.Tyr176Cys) single nucleotide variant Uncertain significance rs757498880 GRCh38 Chromosome 10, 87952152: 87952152
33 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh37 Chromosome 17, 29550550: 29550550
34 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh38 Chromosome 17, 31223532: 31223532
35 BAP1 NM_004656.3(BAP1): c.1026C> T (p.Ser342=) single nucleotide variant Benign/Likely benign rs71651686 GRCh37 Chromosome 3, 52439216: 52439216
36 BAP1 NM_004656.3(BAP1): c.1026C> T (p.Ser342=) single nucleotide variant Benign/Likely benign rs71651686 GRCh38 Chromosome 3, 52405200: 52405200
37 BAP1 NM_004656.3(BAP1): c.1002A> G (p.Leu334=) single nucleotide variant Benign/Likely benign rs28997577 GRCh37 Chromosome 3, 52439240: 52439240
38 BAP1 NM_004656.3(BAP1): c.1002A> G (p.Leu334=) single nucleotide variant Benign/Likely benign rs28997577 GRCh38 Chromosome 3, 52405224: 52405224
39 BAP1 NM_004656.3(BAP1): c.778C> T (p.Gln260Ter) single nucleotide variant Pathogenic rs864622592 GRCh37 Chromosome 3, 52440274: 52440274
40 BAP1 NM_004656.3(BAP1): c.778C> T (p.Gln260Ter) single nucleotide variant Pathogenic rs864622592 GRCh38 Chromosome 3, 52406258: 52406258
41 BAP1 NM_004656.3(BAP1): c.1717delC (p.Leu573Trpfs) deletion Pathogenic rs869025212 GRCh37 Chromosome 3, 52437444: 52437444
42 BAP1 NM_004656.3(BAP1): c.1717delC (p.Leu573Trpfs) deletion Pathogenic rs869025212 GRCh38 Chromosome 3, 52403428: 52403428
43 BAP1 NM_004656.3(BAP1): c.2091C> T (p.Ser697=) single nucleotide variant Likely benign rs754513396 GRCh38 Chromosome 3, 52402387: 52402387
44 BAP1 NM_004656.3(BAP1): c.2091C> T (p.Ser697=) single nucleotide variant Likely benign rs754513396 GRCh37 Chromosome 3, 52436403: 52436403
45 BAP1 NM_004656.3(BAP1): c.2057-4G> T single nucleotide variant Benign/Likely benign rs149499021 GRCh37 Chromosome 3, 52436441: 52436441
46 BAP1 NM_004656.3(BAP1): c.2057-4G> T single nucleotide variant Benign/Likely benign rs149499021 GRCh38 Chromosome 3, 52402425: 52402425
47 BAP1 NM_004656.3(BAP1): c.1962A> C (p.Val654=) single nucleotide variant Benign/Likely benign rs148624125 GRCh37 Chromosome 3, 52436816: 52436816
48 BAP1 NM_004656.3(BAP1): c.1962A> C (p.Val654=) single nucleotide variant Benign/Likely benign rs148624125 GRCh38 Chromosome 3, 52402800: 52402800
49 BAP1 NM_004656.3(BAP1): c.1946G> A (p.Cys649Tyr) single nucleotide variant Uncertain significance rs151308667 GRCh37 Chromosome 3, 52436832: 52436832
50 BAP1 NM_004656.3(BAP1): c.1946G> A (p.Cys649Tyr) single nucleotide variant Uncertain significance rs151308667 GRCh38 Chromosome 3, 52402816: 52402816

Expression for 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 11.2 SMARCA4 SMARCB1
7 11.1 BRCA2 PALB2 PMS2
8
Show member pathways
10.84 BRCA2 MRE11 SMARCA4 SMARCB1
9
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 9.8 BAP1 BRCA2 MRE11 PALB2 PMS2 SMARCA4
3 SWI/SNF complex GO:0016514 9.16 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 16)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.78 BRCA2 MRE11 PALB2 PMS2
2 chromatin organization GO:0006325 9.72 BAP1 SMARCA4 SMARCB1
3 DNA recombination GO:0006310 9.61 BRCA2 MRE11 PALB2
4 double-strand break repair GO:0006302 9.56 BRCA2 MRE11
5 chromosome organization GO:0051276 9.54 BRCA2 MRE11
6 ATP-dependent chromatin remodeling GO:0043044 9.52 SMARCA4 SMARCB1
7 nucleosome disassembly GO:0006337 9.51 SMARCA4 SMARCB1
8 double-strand break repair via homologous recombination GO:0000724 9.5 BRCA2 MRE11 PALB2
9 positive regulation by host of viral transcription GO:0043923 9.49 SMARCA4 SMARCB1
10 inner cell mass cell proliferation GO:0001833 9.46 BRCA2 PALB2
11 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.4 SMARCA4 SMARCB1
12 RNA polymerase I transcriptional preinitiation complex assembly GO:0001188 9.37 SMARCA4 SMARCB1
13 DNA repair GO:0006281 9.35 BRCA2 MRE11 PALB2 PMS2 SMARCB1
14 DNA synthesis involved in DNA repair GO:0000731 9.33 BRCA2 MRE11 PALB2
15 positive regulation of glucose mediated signaling pathway GO:1902661 9.26 SMARCA4 SMARCB1
16 strand displacement GO:0000732 8.8 BRCA2 MRE11 PALB2

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 BAP1 DICER1 MRE11 PMS2 SMARCA4
2 DNA binding GO:0003677 9.8 BRCA2 DICER1 MRE11 PALB2 PMS2 SMARCB1
3 nuclease activity GO:0004518 9.43 DICER1 MRE11 PMS2
4 nucleosomal DNA binding GO:0031492 9.37 SMARCA4 SMARCB1
5 Tat protein binding GO:0030957 9.16 SMARCA4 SMARCB1
6 endonuclease activity GO:0004519 9.13 DICER1 MRE11 PMS2
7 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 8.62 SMARCA4 SMARCB1

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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