MCID: MTG002
MIFTS: 36

Mutagen Sensitivity malady

Categories: Rare diseases

Aliases & Classifications for Mutagen Sensitivity

Aliases & Descriptions for Mutagen Sensitivity:

Name: Mutagen Sensitivity 50

Classifications:



Summaries for Mutagen Sensitivity

MalaCards based summary : Mutagen Sensitivity is related to nasopharyngeal carcinoma and colorectal cancer. An important gene associated with Mutagen Sensitivity is GSTT1 (Glutathione S-Transferase Theta 1), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include lung, breast and testes, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and growth/size/body region

Related Diseases for Mutagen Sensitivity

Diseases related to Mutagen Sensitivity via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
id Related Disease Score Top Affiliating Genes
1 nasopharyngeal carcinoma 29.6 BRCA1 BRCA2 TP53
2 colorectal cancer 27.7 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B GSTM1
3 aorto-ventricular tunnel 10.3 BRCA1 BRCA2
4 tenosynovitis 10.2 GSTM1 GSTT1 XRCC1
5 burn scar 10.2 BRCA1 BRCA2
6 kunjin encephalitis 10.2 BRCA1 BRCA2
7 lethal congenital contracture syndrome 7 10.2 BRCA1 BRCA2
8 emery-dreifuss muscular dystrophy, x-linked 10.2 GSTM1 GSTT1 NAT2
9 autoimmune disease of cardiovascular system 10.2 BRCA1 BRCA2
10 heart malignant hemangiopericytoma 10.2 BRCA1 BRCA2
11 lung clear cell-sugar-tumor 10.2 BRCA1 BRCA2 TP53
12 breast pericanalicular fibroadenoma 10.2 BRCA1 BRCA2 TP53
13 paraphimosis 10.2 BRCA1 BRCA2 TP53
14 bladder colloid adenocarcinoma 10.2 BRCA1 BRCA2 TP53
15 mediastinum synovial sarcoma 10.2 BRCA1 BRCA2 TP53
16 fallopian tube carcinosarcoma 10.2 BRCA1 BRCA2 TP53
17 cellular ependymoma 10.2 BRCA1 BRCA2 TP53
18 immunodeficiency due to a late component of complement deficiency 10.2 BRCA1 BRCA2 TP53
19 congenital bile acid synthesis defect 10.2 BRCA2 TP53 XRCC1
20 pyomyositis 10.2 BRCA1 BRCA2 TP53
21 metagonimiasis 10.2 BRCA1 BRCA2 TP53
22 tamoxifen-related endometrial lesion 10.2 ERCC2 TP53 XRCC1
23 dental caries 10.2 BRCA1 BRCA2 TP53
24 nasal cavity disease 10.1 BRCA1 BRCA2 TP53
25 larynx liposarcoma 10.1 BRCA1 BRCA2 TP53
26 adult central nervous system mature teratoma 10.1 CCND1 TP53 XRCC1
27 bronchogenic cyst 10.1 BRCA1 BRCA2
28 bronchiectasis oligospermia 10.1 BRCA1 BRCA2
29 lung cancer 10.1
30 bone marrow failure syndrome 2 10.1 TP53 XPA XPC
31 congenital stationary night blindness 1h 10.1 RAD23B XPA XPC
32 connective tissue benign neoplasm 10.1 CCND1 GSTM1 TP53
33 rapsn-related fetal akinesia deformation sequence 10.1 BRCA2 GSTM1 GSTT1 NAT2
34 thymus lymphoma 10.0 ERCC2 TP53 XPA
35 ornithinemia 10.0 CCND1 GSTM1 GSTT1 TP53
36 oro-mandibular-limb hypogenesis syndrome 10.0 CCND1 GSTM1 TP53 XRCC1
37 trichothiodystrophy 2, photosensitive 10.0 ERCC2 RAD23B XPA
38 hypogonadotropic hypogonadism 20 with or without anosmia 10.0 CCND1 GSTM1 GSTT1 TP53
39 post-surgical hypoinsulinemia 10.0 BRCA2 CCND1 TP53
40 bile acid malabsorption, primary 10.0 RAD23B XPA XRCC1 XRCC3
41 3-methylglutaconic aciduria, type iii 10.0 ERCC2 RAD23B XPA
42 breast cancer 10.0
43 alpha chain disease 10.0 ERCC2 TP53 XPA
44 ladd syndrome 10.0 CCND1 GSTM1 GSTT1 TP53
45 villoglandular endometrial endometrioid adenocarcinoma 10.0 BRCA1 BRCA2 CCND1 TP53
46 estrogen-receptor positive breast cancer 10.0 BRCA1 BRCA2 CCND1 TP53
47 progesterone-receptor positive breast cancer 10.0 BRCA1 BRCA2 CCND1 TP53
48 breast malignant phyllodes tumor 10.0 BRCA1 CCND1 TP53
49 trachea squamous cell carcinoma 10.0 BRCA1 BRCA2 CCND1 TP53
50 nevoid hypermelanosis, linear and whorled 10.0 BRCA1 BRCA2 CCND1 TP53

Graphical network of the top 20 diseases related to Mutagen Sensitivity:



Diseases related to Mutagen Sensitivity

Symptoms & Phenotypes for Mutagen Sensitivity

GenomeRNAi Phenotypes related to Mutagen Sensitivity according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.05 BRCA1 BRCA2 DNMT3B TP53 XRCC1 XRCC3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.05 BRCA1 BRCA2 DNMT3B TP53 XRCC1 XRCC3
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10 TP53 XPA XPC XRCC1 XRCC3 BRCA1
4 Synthetic lethal with cisplatin GR00101-A-1 9.33 BRCA1 BRCA2 XRCC3
5 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.17 BLMH BRCA1 BRCA2 DNMT1 RAD23B XPC

MGI Mouse Phenotypes related to Mutagen Sensitivity:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.35 BLMH BRCA1 BRCA2 CCND1 DNMT1 DNMT3B
2 cellular MP:0005384 10.34 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
3 behavior/neurological MP:0005386 10.31 BRCA2 CCND1 DNMT1 ERCC2 RAD23B TP53
4 homeostasis/metabolism MP:0005376 10.29 BLMH BRCA1 BRCA2 CCND1 ERCC2 IGF1
5 mortality/aging MP:0010768 10.28 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
6 immune system MP:0005387 10.27 BLMH BRCA1 BRCA2 CCND1 DNMT1 DNMT3B
7 hematopoietic system MP:0005397 10.22 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
8 integument MP:0010771 10.22 BLMH BRCA1 BRCA2 CCND1 DNMT1 ERCC2
9 endocrine/exocrine gland MP:0005379 10.2 XPA RAD23B TP53 BRCA1 BRCA2 CCND1
10 neoplasm MP:0002006 10.14 IGF1 TP53 XPA XPC XRCC1 BRCA1
11 nervous system MP:0003631 10.11 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
12 adipose tissue MP:0005375 10.05 BRCA1 ERCC2 IGF1 RAD23B TP53 XPA
13 limbs/digits/tail MP:0005371 9.93 BLMH BRCA1 BRCA2 IGF1 TP53 XPA
14 normal MP:0002873 9.92 BRCA2 CCND1 DNMT1 IGF1 RAD23B TP53
15 reproductive system MP:0005389 9.9 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
16 pigmentation MP:0001186 9.65 BRCA1 DNMT1 ERCC2 TP53 XPA
17 skeleton MP:0005390 9.56 BRCA1 BRCA2 CCND1 DNMT3B ERCC2 IGF1
18 vision/eye MP:0005391 9.17 DNMT3B ERCC2 RAD23B TP53 XPA XPC

Drugs & Therapeutics for Mutagen Sensitivity

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic Susceptibility to Bladder Cancer Recruiting NCT00848289
2 DNA Repair, p53 and Apoptosis Phenotypes in Lung Cancer Recruiting NCT00339859

Search NIH Clinical Center for Mutagen Sensitivity

Genetic Tests for Mutagen Sensitivity

Anatomical Context for Mutagen Sensitivity

MalaCards organs/tissues related to Mutagen Sensitivity:

39
Lung, Breast, Testes, Skin, Colon

Publications for Mutagen Sensitivity

Articles related to Mutagen Sensitivity:

(show top 50) (show all 122)
id Title Authors Year
1
Increased Mutagen Sensitivity and DNA Damage in Pulmonary Arterial Hypertension. ( 25918951 )
2015
2
4-Nitroquinoline-1-oxide-induced mutagen sensitivity and risk of cutaneous melanoma: a case-control analysis. ( 24977319 )
2014
3
Chemoprevention by celecoxib and mutagen sensitivity of cyclin d1 in patients with oropharyngeal carcinoma. ( 24425835 )
2014
4
Mutagen sensitivity as measured by induced chromatid breakage as a marker of cancer risk. ( 24623229 )
2014
5
Bleomycin-induced mutagen sensitivity, passive smoking, and risk of breast cancer in Chinese women: a case-control study. ( 23371556 )
2013
6
DNA repair and mutagen sensitivity of epithelial cells and lymphocytes in oropharyngeal cancer. ( 22740863 )
2012
7
Gamma-ray-induced mutagen sensitivity and risk of sporadic breast cancer in young women: a case-control study. ( 22218884 )
2012
8
Automated scoring of lymphocyte micronuclei by the MetaSystems Metafer image cytometry system and its application in studies of human mutagen sensitivity and biodosimetry of genotoxin exposure. ( 21164199 )
2011
9
Evaluating the effects of genetic variants of DNA repair genes using cytogenetic mutagen sensitivity approaches. ( 21595606 )
2011
10
Mutagen sensitivity and DNA repair of the EGFR gene in oropharyngeal cancer. ( 20400363 )
2010
11
Mutagen sensitivity in oral cancer patients, healthy tobacco chewers and controls. ( 20391973 )
2010
12
Mutagen sensitivity, tobacco smoking and breast cancer risk: a case-control study. ( 20110285 )
2010
13
Chromosomal alterations and mutagen sensitivity in human mucosal cells of the oropharynx and lymphocytes caused by BPDE. ( 19996129 )
2009
14
Haplotypes of DNMT1 and DNMT3B are associated with mutagen sensitivity induced by benzo[a]pyrene diol epoxide among smokers. ( 18499700 )
2008
15
Micronuclei frequency induced by bleomycin in human peripheral lymphocytes: correlating BLHX polymorphism with mutagen sensitivity. ( 18082847 )
2008
16
Inherited susceptibility to bleomycin-induced micronuclei: correlating polymorphisms in GSTT1, GSTM1 and DNA repair genes with mutagen sensitivity. ( 17953974 )
2008
17
Mutagen sensitivity: a genetic predisposition factor for cancer. ( 17440053 )
2007
18
Interplay between mutagen sensitivity and epidemiological factors in modulatinglung cancer risk. ( 17290394 )
2007
19
4-Nitroquinoline-1-oxide-induced mutagen sensitivity and risk of nonmelanoma skin cancer: a case-control analysis. ( 16841033 )
2007
20
Mutagen sensitivity and genetic variants in nucleotide excision repair pathway: genotype-phenotype correlation. ( 17932354 )
2007
21
Reliability of mutagen sensitivity assay: an inter-laboratory comparison. ( 16870697 )
2006
22
gamma-Radiation-induced chromosomal mutagen sensitivity is associated with breast cancer risk in African-American women: caffeine modulates the outcome of mutagen sensitivity assay. ( 16537698 )
2006
23
Mutagen sensitivity has high heritability: evidence from a twin study. ( 16778168 )
2006
24
Joint effect of mutagen sensitivity and insulin-like growth factors in predicting the risk of developing secondary primary tumors and tumor recurrence in patients with head and neck cancer. ( 17145846 )
2006
25
Evaluation of glutathione S-transferase polymorphisms and mutagen sensitivity as risk factors for the development of second primary tumors in patients previously diagnosed with early-stage head and neck cancer. ( 16703596 )
2006
26
DNA damage, oxidative mutagen sensitivity, and repair of oxidative DNA damage in nonmelanoma skin cancer patients. ( 16673411 )
2006
27
Mutagen sensitivity and neoplastic progression in patients with Barrett's esophagus: a prospective analysis. ( 17035402 )
2006
28
Mutagen sensitivity may predict lung protection by amifostine for patients with locally advanced non-small cell lung cancer treated by chemoradiotherapy. ( 16015542 )
2005
29
High mutagen sensitivity in peripheral blood lymphocytes predicts poor overall and disease-specific survival in patients with stage III non-small cell lung cancer treated with radiotherapy and chemotherapy. ( 15837739 )
2005
30
Mutagen sensitivity of patients with cancer at different sites of the head and neck. ( 16105906 )
2005
31
Basal, oxidative and alkylative DNA damage, DNA repair efficacy and mutagen sensitivity in breast cancer. ( 15450412 )
2004
32
Inter-rater agreement on chromosome 5 breakage in FISH-based mutagen sensitivity assays (MSAs). ( 15279836 )
2004
33
Aphidicolin and bleomycin induced chromosome damage as biomarker of mutagen sensitivity: a twin study. ( 14757193 )
2004
34
Differential mutagen sensitivity of peripheral blood lymphocytes from smokers and nonsmokers: effect of human cytomegalovirus infection. ( 15065204 )
2004
35
Chromosomal mutagen sensitivity associated with mutations in BRCA genes. ( 15162060 )
2004
36
Mutagen sensitivity of human lymphoblastoid cells with a BRCA1 mutation. ( 12611459 )
2003
37
Mutagen sensitivity as a susceptibility marker for endometriosis. ( 14507820 )
2003
38
Assessment of insulin-like growth factors and mutagen sensitivity as predictors of lung cancer risk. ( 12407747 )
2003
39
From genotype to phenotype: correlating XRCC1 polymorphisms with mutagen sensitivity. ( 12893086 )
2003
40
Mutagen sensitivity assays in population studies. ( 14644328 )
2003
41
Involvement of cell cycle control in bleomycin-induced mutagen sensitivity. ( 12203399 )
2002
42
Mutagen sensitivity of peripheral blood from women carrying a BRCA1 or BRCA2 mutation. ( 11890937 )
2002
43
Randomized, placebo-controlled trial of dietary supplementation of alpha-tocopherol on mutagen sensitivity levels in melanoma patients: a pilot trial. ( 11828262 )
2002
44
Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagen sensitivity. ( 12082022 )
2002
45
Mutagen sensitivity of nasopharyngeal cancer patients. ( 11287308 )
2001
46
Mutagen sensitivity and p53 expression in colorectal cancer in China. ( 11677281 )
2001
47
Construction of green fluorescent protein reporter genes for genotoxicity test (SOS/umu-test) and improvement of mutagen-sensitivity. ( 16233101 )
2001
48
Mutagen sensitivity as an indicator of soft tissue sarcoma risk. ( 11746758 )
2001
49
Rapid screening assay for mutagen sensitivity and DNA repair capacity in human peripheral blood lymphocytes. ( 11139596 )
2001
50
Mutagen sensitivity as a biomarker for second primary tumors after head and neck squamous cell carcinoma. ( 10919742 )
2000

Variations for Mutagen Sensitivity

Expression for Mutagen Sensitivity

Search GEO for disease gene expression data for Mutagen Sensitivity.

Pathways for Mutagen Sensitivity

Pathways related to Mutagen Sensitivity according to GeneCards Suite gene sharing:

(show all 20)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 BRCA1 BRCA2 ERCC2 RAD23B TP53 XPA
2
Show member pathways
12.69 ERCC2 RAD23B XPA XPC XRCC1
3 12.43 BRCA1 CCND1 IGF1 TP53
4 12.33 BRCA1 CCND1 DNMT1 DNMT3B TP53
5
Show member pathways
12.2 BRCA1 CCND1 IGF1 TP53
6 12.07 BRCA1 BRCA2 CCND1 ERCC2 RAD23B TP53
7 11.95 BRCA1 BRCA2 CCND1 TP53 XRCC3
8
Show member pathways
11.93 BRCA1 BRCA2 CCND1 ERCC2 IGF1 RAD23B
9 11.8 CCND1 IGF1 TP53
10
Show member pathways
11.77 ERCC2 RAD23B XPA XPC
11 11.69 CCND1 DNMT1 TP53
12
Show member pathways
11.64 BRCA1 BRCA2 TP53
13 11.56 ERCC2 TP53 XPA XPC
14 11.42 BRCA1 GSTM1 GSTT1 TP53 XPA
15 11.39 BRCA1 CCND1 TP53
16 11.31 BRCA1 CCND1 TP53
17 11.22 BRCA2 CCND1 XRCC1
18 11.11 BRCA1 CCND1 TP53
19 11.02 ERCC2 GSTM1 GSTT1 XPA
20 10.86 BRCA1 TP53

GO Terms for Mutagen Sensitivity

Cellular components related to Mutagen Sensitivity according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.4 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
2 lateral element GO:0000800 9.37 BRCA1 BRCA2
3 XPC complex GO:0071942 9.16 RAD23B XPC
4 replication fork GO:0005657 9.13 DNMT1 TP53 XRCC3
5 nucleus GO:0005634 10.13 BLMH BRCA1 BRCA2 CCND1 DNMT1 DNMT3B
6 cytoplasm GO:0005737 10.07 BLMH BRCA1 BRCA2 CCND1 DNMT3B ERCC2

Biological processes related to Mutagen Sensitivity according to GeneCards Suite gene sharing:

(show all 32)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.97 BLMH CCND1 DNMT3B XPC XRCC1
2 positive regulation of gene expression GO:0010628 9.96 BRCA1 DNMT1 DNMT3B TP53
3 DNA recombination GO:0006310 9.83 BRCA1 BRCA2 XRCC3
4 response to toxic substance GO:0009636 9.82 BLMH DNMT3B XPA
5 response to organic substance GO:0010033 9.81 CCND1 XRCC1 XRCC3
6 transcription-coupled nucleotide-excision repair GO:0006283 9.79 ERCC2 XPA XRCC1
7 Ras protein signal transduction GO:0007265 9.78 DNMT1 IGF1 TP53
8 double-strand break repair via homologous recombination GO:0000724 9.78 BRCA1 BRCA2 XRCC1 XRCC3
9 response to ionizing radiation GO:0010212 9.77 BRCA1 DNMT3B XRCC3
10 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.76 BRCA1 BRCA2 XPA
11 DNA repair GO:0006281 9.76 BRCA1 BRCA2 ERCC2 RAD23B XPA XPC
12 base-excision repair GO:0006284 9.73 TP53 XPA XRCC1
13 DNA synthesis involved in DNA repair GO:0000731 9.72 BRCA1 BRCA2 XRCC3
14 strand displacement GO:0000732 9.7 BRCA1 BRCA2 XRCC3
15 nucleotide-excision repair, DNA damage recognition GO:0000715 9.69 RAD23B XPA XPC
16 response to X-ray GO:0010165 9.67 BRCA2 CCND1 TP53
17 global genome nucleotide-excision repair GO:0070911 9.67 ERCC2 RAD23B XPA XPC
18 UV protection GO:0009650 9.63 ERCC2 XPA
19 response to auditory stimulus GO:0010996 9.63 XPA XPC
20 positive regulation of histone H3-K4 methylation GO:0051571 9.63 BRCA1 DNMT1 DNMT3B
21 UV-damage excision repair GO:0070914 9.62 XPA XPC
22 mitotic G1 DNA damage checkpoint GO:0031571 9.62 CCND1 TP53
23 nucleotide-excision repair, preincision complex assembly GO:0006294 9.62 ERCC2 RAD23B XPA XPC
24 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.61 BRCA1 BRCA2 TP53
25 regulation of mitotic cell cycle phase transition GO:1901990 9.6 ERCC2 XPC
26 chordate embryonic development GO:0043009 9.58 BRCA1 BRCA2
27 negative regulation of histone H3-K9 methylation GO:0051573 9.58 BRCA1 DNMT1 DNMT3B
28 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.56 ERCC2 RAD23B XPA XPC
29 C-5 methylation of cytosine GO:0090116 9.54 DNMT1 DNMT3B
30 nucleotide-excision repair GO:0006289 9.43 BRCA2 ERCC2 RAD23B TP53 XPA XPC
31 cellular response to DNA damage stimulus GO:0006974 9.32 BRCA1 BRCA2 CCND1 ERCC2 RAD23B TP53
32 positive regulation of transcription, DNA-templated GO:0045893 10.04 BRCA1 BRCA2 ERCC2 IGF1 TP53

Molecular functions related to Mutagen Sensitivity according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.77 BRCA1 CCND1 GSTM1 TP53 XRCC1
2 histone deacetylase binding GO:0042826 9.61 CCND1 DNMT3B TP53
3 DNA-methyltransferase activity GO:0009008 9.32 DNMT1 DNMT3B
4 single-stranded DNA binding GO:0003697 9.26 BRCA2 RAD23B XPC XRCC3
5 DNA (cytosine-5-)-methyltransferase activity GO:0003886 9.16 DNMT1 DNMT3B
6 damaged DNA binding GO:0003684 9.1 BRCA1 RAD23B TP53 XPA XPC XRCC1
7 protein binding GO:0005515 10.16 BLMH BRCA1 BRCA2 CCND1 DNMT1 DNMT3B
8 DNA binding GO:0003677 10.06 BRCA1 BRCA2 DNMT1 DNMT3B ERCC2 TP53

Sources for Mutagen Sensitivity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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