MCID: MTG002
MIFTS: 36

Mutagen Sensitivity malady

Category: Rare diseases

Aliases & Classifications for Mutagen Sensitivity

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Aliases & Descriptions for Mutagen Sensitivity:

Name: Mutagen Sensitivity 48

Classifications:



Summaries for Mutagen Sensitivity

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MalaCards based summary: Mutagen Sensitivity is related to nasopharyngeal carcinoma and lung cancer. An important gene associated with Mutagen Sensitivity is GSTT1 (Glutathione S-Transferase Theta 1), and among its related pathways are DNA Damage Induced 14-3-3Sigma Signaling and BRCA1 Pathway. Affiliated tissues include lung, testes and skin, and related mouse phenotypes are Synthetic lethal with cisplatin and Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation.

Related Diseases for Mutagen Sensitivity

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

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1nasopharyngeal carcinoma29.6BRCA1, BRCA2, TP53, XPC
2lung cancer28.3CCND1, DNMT1, ERCC2, GSTM1, GSTT1, TP53
3breast cancer26.9BRCA1, BRCA2, CCND1, DNMT3B, IGF1, NAT2
4colorectal cancer25.5BRCA1, BRCA2, CCND1, DNMT1, DNMT3B, GSTM1
5congenital pulmonary veins atresia or stenosis10.6BRCA1, BRCA2
6bronchopulmonary dysplasia10.5BRCA1, BRCA2
7cutaneous lupus erythematosus10.5BRCA1, BRCA2
8autoimmune disease of blood10.5BRCA1, BRCA2
9selective ige deficiency disease10.5BRCA1, BRCA2
10familial breast cancer10.5BRCA1, BRCA2
11breast cancer, childhood10.4BRCA1, BRCA2
12lethal congenital contracture syndrome 710.4BRCA1, BRCA2
13emery-dreifuss muscular dystrophy, dominant type10.4GSTM1, GSTT1, NAT2
14cervical serous adenocarcinoma10.3BRCA1, BRCA2, TP53
15ovarian brenner tumor10.3BRCA1, BRCA2, TP53
16rectum mucinous adenocarcinoma10.3BRCA1, BRCA2, TP53
17papillary adenofibroma10.3BRCA1, BRCA2, TP53
18diplegia of upper limb10.3GSTM1, GSTT1, NAT2
19leiomyosarcoma10.3BRCA1, BRCA2, TP53
20distal monosomy 9p10.3BRCA1, BRCA2, TP53
21adrenal cortical carcinoma10.3GSTM1, TP53, XRCC1
22dental caries10.3BRCA1, BRCA2, TP53
23visual cortex disease10.3BRCA1, BRCA2, TP53
24mixed cerebral palsy10.3BRCA2, TP53, XRCC1
25milker's nodule10.3BRCA1, BRCA2, TP53
26acute myocardial infarction10.3GSTM1, GSTT1, TP53
27fat necrosis of breast10.3BRCA1, BRCA2
28ovarian wilms' cancer10.3BRCA1, BRCA2, TP53
29lung carcinoma in situ10.3BRCA1, BRCA2, TP53
30oral pharyngeal disorders10.3GSTM1, GSTT1, TP53, XRCC1
31levic stefanovic nikolic syndrome10.3GSTM1, GSTT1, TP53, XRCC1
32cerebrooculofacioskeletal syndrome 210.3ERCC2, XPC, XRCC1
33stroma-dominant and stroma-poor composite ganglioneuroblastoma10.3ERCC2, TP53, XRCC1
34tumor predisposition syndrome10.2BRCA1, BRCA2, TP53
35xeroderma pigmentosum, group c10.2RAD23B, XPC
36apocrine adenosis of breast10.2CCND1, XRCC1
37fallopian tube germ cell cancer10.2BRCA1, BRCA2
383-methylglutaconic aciduria, type i10.2XPA, XPC
39amyloid tumor10.1BRCA1, BRCA2, CCND1
40asthenopia10.0ERCC2, TP53, XPA
41bullous keratopathy10.0ERCC2, TP53, XPA
42cholesteatoma of external ear10.0BRCA1, TP53
43chondroma10.0CCND1, GSTM1, GSTT1, TP53
44heavy chain disease10.0ERCC2, TP53, XPA
453-methylglutaconic aciduria, type iii10.0ERCC2, RAD23B, XPA
46pineal region meningioma10.0BRCA1, BRCA2, GSTM1, TP53, XRCC1
47short-rib thoracic dysplasia 3 with or without polydactyly10.0BRCA1, BRCA2, TP53
48bursitis10.0ERCC2, XPA, XPC
49cervical cancer, somatic10.0CCND1, GSTM1, GSTT1, TP53
50ductal carcinoma in situ9.9BRCA1, BRCA2, CCND1, TP53

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



Diseases related to mutagen sensitivity

Symptoms & Phenotypes for Mutagen Sensitivity

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00101-A-110.3BRCA1, BRCA2, XRCC3
2GR00016-A8.8BLMH, BRCA1, BRCA2, DNMT1, RAD23B, XPC
3GR00250-A-36.6BRCA1, BRCA2, DNMT1, DNMT3B, ERCC2, RAD23B
4GR00250-A-16.4BRCA1, BRCA2, CCND1, DNMT3B, TP53, XRCC1

MGI Mouse Phenotypes related to Mutagen Sensitivity according to GeneCards Suite gene sharing:

41 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9BRCA1, DNMT1, ERCC2, TP53, XPA
2MP:00053808.4BRCA1, BRCA2, DNMT1, DNMT3B, RAD23B, TP53
3MP:00053718.4BLMH, BRCA1, BRCA2, IGF1, TP53, XPA
4MP:00053757.9BRCA1, ERCC2, IGF1, RAD23B, TP53, XPA
5MP:00053917.7CCND1, DNMT3B, ERCC2, RAD23B, TP53, XPA
6MP:00028737.5BRCA1, BRCA2, CCND1, DNMT1, IGF1, RAD23B
7MP:00053907.0BRCA1, BRCA2, CCND1, DNMT3B, ERCC2, IGF1
8MP:00053796.8BRCA1, BRCA2, CCND1, DNMT3B, ERCC2, IGF1
9MP:00053866.6BLMH, BRCA1, BRCA2, CCND1, DNMT1, ERCC2
10MP:00107716.3BLMH, BRCA1, BRCA2, CCND1, DNMT1, ERCC2
11MP:00053976.2BRCA1, BRCA2, CCND1, DNMT1, DNMT3B, ERCC2
12MP:00020066.1BRCA1, BRCA2, CCND1, DNMT1, DNMT3B, ERCC2
13MP:00053896.0BRCA1, BRCA2, CCND1, DNMT1, DNMT3B, ERCC2
14MP:00053845.7BRCA1, BRCA2, CCND1, DNMT1, DNMT3B, ERCC2
15MP:00036315.6BRCA1, BRCA2, CCND1, DNMT1, DNMT3B, ERCC2
16MP:00053875.6BLMH, BRCA1, BRCA2, CCND1, DNMT1, DNMT3B
17MP:00053765.6BLMH, BRCA1, BRCA2, CCND1, ERCC2, IGF1
18MP:00053785.1BLMH, BRCA1, BRCA2, CCND1, DNMT1, DNMT3B
19MP:00107685.0BLMH, BRCA1, BRCA2, CCND1, DNMT1, DNMT3B

Drugs & Therapeutics for Mutagen Sensitivity

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Susceptibility to Bladder CancerUnknown statusNCT00848289
2DNA Repair, p53 and Apoptosis Phenotypes in Lung CancerRecruitingNCT00339859

Search NIH Clinical Center for Mutagen Sensitivity

Genetic Tests for Mutagen Sensitivity

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Anatomical Context for Mutagen Sensitivity

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MalaCards organs/tissues related to Mutagen Sensitivity:

36
Lung, Testes, Skin, Colon

Publications for Mutagen Sensitivity

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Articles related to Mutagen Sensitivity:

(show top 50)    (show all 122)
idTitleAuthorsYear
1
Increased Mutagen Sensitivity and DNA Damage in Pulmonary Arterial Hypertension. (25918951)
2015
2
Mutagen sensitivity as measured by induced chromatid breakage as a marker of cancer risk. (24623229)
2014
3
Chemoprevention by celecoxib and mutagen sensitivity of cyclin d1 in patients with oropharyngeal carcinoma. (24425835)
2014
4
4-Nitroquinoline-1-oxide-induced mutagen sensitivity and risk of cutaneous melanoma: a case-control analysis. (24977319)
2014
5
Bleomycin-induced mutagen sensitivity, passive smoking, and risk of breast cancer in Chinese women: a case-control study. (23371556)
2013
6
Gamma-ray-induced mutagen sensitivity and risk of sporadic breast cancer in young women: a case-control study. (22218884)
2012
7
DNA repair and mutagen sensitivity of epithelial cells and lymphocytes in oropharyngeal cancer. (22740863)
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 in oral cancer patients, healthy tobacco chewers and controls. (20391973)
2010
11
Mutagen sensitivity and DNA repair of the EGFR gene in oropharyngeal cancer. (20400363)
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
Micronuclei frequency induced by bleomycin in human peripheral lymphocytes: correlating BLHX polymorphism with mutagen sensitivity. (18082847)
2008
15
Inherited susceptibility to bleomycin-induced micronuclei: correlating polymorphisms in GSTT1, GSTM1 and DNA repair genes with mutagen sensitivity. (17953974)
2008
16
Haplotypes of DNMT1 and DNMT3B are associated with mutagen sensitivity induced by benzo[a]pyrene diol epoxide among smokers. (18499700)
2008
17
Mutagen sensitivity: a genetic predisposition factor for cancer. (17440053)
2007
18
Mutagen sensitivity and genetic variants in nucleotide excision repair pathway: genotype-phenotype correlation. (17932354)
2007
19
Interplay between mutagen sensitivity and epidemiological factors in modulatinglung cancer risk. (17290394)
2007
20
4-Nitroquinoline-1-oxide-induced mutagen sensitivity and risk of nonmelanoma skin cancer: a case-control analysis. (16841033)
2007
21
Mutagen sensitivity and neoplastic progression in patients with Barrett's esophagus: a prospective analysis. (17035402)
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
DNA damage, oxidative mutagen sensitivity, and repair of oxidative DNA damage in nonmelanoma skin cancer patients. (16673411)
2006
24
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
25
Mutagen sensitivity has high heritability: evidence from a twin study. (16778168)
2006
26
Reliability of mutagen sensitivity assay: an inter-laboratory comparison. (16870697)
2006
27
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
28
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
29
Mutagen sensitivity of patients with cancer at different sites of the head and neck. (16105906)
2005
30
Mutagen sensitivity may predict lung protection by amifostine for patients with locally advanced non-small cell lung cancer treated by chemoradiotherapy. (16015542)
2005
31
Differential mutagen sensitivity of peripheral blood lymphocytes from smokers and nonsmokers: effect of human cytomegalovirus infection. (15065204)
2004
32
Aphidicolin and bleomycin induced chromosome damage as biomarker of mutagen sensitivity: a twin study. (14757193)
2004
33
Basal, oxidative and alkylative DNA damage, DNA repair efficacy and mutagen sensitivity in breast cancer. (15450412)
2004
34
Inter-rater agreement on chromosome 5 breakage in FISH-based mutagen sensitivity assays (MSAs). (15279836)
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
From genotype to phenotype: correlating XRCC1 polymorphisms with mutagen sensitivity. (12893086)
2003
39
Assessment of insulin-like growth factors and mutagen sensitivity as predictors of lung cancer risk. (12407747)
2003
40
Mutagen sensitivity assays in population studies. (14644328)
2003
41
Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagen sensitivity. (12082022)
2002
42
Randomized, placebo-controlled trial of dietary supplementation of alpha-tocopherol on mutagen sensitivity levels in melanoma patients: a pilot trial. (11828262)
2002
43
Involvement of cell cycle control in bleomycin-induced mutagen sensitivity. (12203399)
2002
44
Mutagen sensitivity of peripheral blood from women carrying a BRCA1 or BRCA2 mutation. (11890937)
2002
45
Rapid screening assay for mutagen sensitivity and DNA repair capacity in human peripheral blood lymphocytes. (11139596)
2001
46
Construction of green fluorescent protein reporter genes for genotoxicity test (SOS/umu-test) and improvement of mutagen-sensitivity. (16233101)
2001
47
Mutagen sensitivity as an indicator of soft tissue sarcoma risk. (11746758)
2001
48
Mutagen sensitivity of nasopharyngeal cancer patients. (11287308)
2001
49
Mutagen sensitivity and p53 expression in colorectal cancer in China. (11677281)
2001
50
Joint effect of insulin-like growth factors and mutagen sensitivity in lung cancer risk. (10984281)
2000

Variations for Mutagen Sensitivity

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Expression for genes affiliated with Mutagen Sensitivity

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Search GEO for disease gene expression data for Mutagen Sensitivity.

Pathways for genes affiliated with Mutagen Sensitivity

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

(show all 19)
idSuper pathwaysScoreTop Affiliating Genes
110.0BRCA1, TP53
2
Show member pathways
9.6BRCA1, BRCA2, TP53
39.5BRCA1, CCND1, TP53
49.5BRCA1, CCND1, TP53
59.4BRCA2, CCND1, XRCC1
69.2CCND1, DNMT1, TP53
79.1ERCC2, GSTM1, GSTT1, XPA
89.0ERCC2, TP53, XPA, XPC
9
Show member pathways
8.9ERCC2, RAD23B, XPA, XPC
108.8CCND1, IGF1, TP53
118.8BRCA1, BRCA2, CCND1, TP53, XRCC3
12
Show member pathways
8.7ERCC2, RAD23B, XPA, XPC, XRCC1
138.6BRCA1, CCND1, IGF1, TP53
148.4BRCA1, CCND1, DNMT1, DNMT3B, TP53
15
Show member pathways
8.3BRCA1, BRCA2, CCND1, IGF1, TP53
168.3BRCA1, BRCA2, CCND1, IGF1, TP53
177.7BRCA1, CCND1, ERCC2, RAD23B, TP53, XPA
18
Show member pathways
7.5BRCA1, BRCA2, ERCC2, RAD23B, TP53, XPA
19
Show member pathways
6.5BRCA1, BRCA2, CCND1, ERCC2, IGF1, RAD23B

GO Terms for genes affiliated with Mutagen Sensitivity

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

idNameGO IDScoreTop Affiliating Genes
1XPC complexGO:00719429.9RAD23B, XPC
2replication forkGO:00056579.5DNMT1, TP53, XRCC3
3nucleoplasmGO:00056546.7BRCA1, BRCA2, CCND1, DNMT1, DNMT3B, ERCC2
4cytoplasmGO:00057376.5BLMH, BRCA1, BRCA2, CCND1, DNMT1, DNMT3B
5nucleusGO:00056346.0BLMH, BRCA1, BRCA2, CCND1, DNMT1, DNMT3B

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

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1chordate embryonic developmentGO:004300910.6BRCA1, BRCA2
2chromosome breakageGO:003105210.6BRCA1, BRCA2
3regulation of mitotic cell cycle phase transitionGO:190199010.5ERCC2, XPC
4mitotic G1 DNA damage checkpointGO:003157110.4CCND1, TP53
5protein sumoylationGO:001692510.4BRCA1, TP53, XPC
6DNA synthesis involved in DNA repairGO:000073110.4BRCA1, BRCA2, XRCC3
7DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.4BRCA1, BRCA2, TP53
8response to auditory stimulusGO:001099610.4XPA, XPC
9base-excision repairGO:000628410.2TP53, XPA, XRCC1
10positive regulation of protein import into nucleus, translocationGO:003316010.2BRCA1, IGF1
11C-5 methylation of cytosineGO:009011610.2DNMT1, DNMT3B
12DNA methylation on cytosine within a CG sequenceGO:001042410.2DNMT1, DNMT3B
13double-strand break repair via homologous recombinationGO:000072410.1BRCA1, BRCA2, XRCC1, XRCC3
14strand displacementGO:000073210.1BRCA1, BRCA2, XRCC3
15intrinsic apoptotic signaling pathway in response to DNA damageGO:000863010.1BRCA1, BRCA2, XPA
16nucleotide-excision repair, DNA damage recognitionGO:000071510.1RAD23B, XPA, XPC
17response to organic substanceGO:001003310.1CCND1, XRCC1, XRCC3
18S-adenosylhomocysteine metabolic processGO:00464989.9DNMT1, DNMT3B
19S-adenosylmethioninamine metabolic processGO:00464999.9DNMT1, DNMT3B
20negative regulation of histone H3-K9 methylationGO:00515739.9BRCA1, DNMT1, DNMT3B
21multicellular organism growthGO:00352649.9BRCA2, ERCC2, XPA
22positive regulation of histone H3-K4 methylationGO:00515719.9BRCA1, DNMT1, DNMT3B
23response to X-rayGO:00101659.8BRCA2, CCND1, TP53
24response to nutrientGO:00075849.7BRCA1, BRCA2, IGF1
25global genome nucleotide-excision repairGO:00709119.7ERCC2, RAD23B, XPA, XPC
26nucleotide-excision repair, DNA duplex unwindingGO:00007179.7ERCC2, RAD23B, XPA, XPC
27nucleotide-excision repair, preincision complex assemblyGO:00062949.7ERCC2, RAD23B, XPA, XPC
28UV-damage excision repairGO:00709149.7XPA, XPC
29positive regulation of gene expressionGO:00106289.6BRCA1, DNMT1, DNMT3B, TP53
30Ras protein signal transductionGO:00072659.6DNMT1, IGF1, TP53
31transcription-coupled nucleotide-excision repairGO:00062839.6ERCC2, XPA, XRCC1
32response to ionizing radiationGO:00102129.5BRCA1, DNMT1, DNMT3B, XRCC3
33DNA repairGO:00062819.5ERCC2, XPA, XPC, XRCC1, XRCC3
34response to activityGO:00148239.3DNMT1, DNMT3B, IGF1
35response to caffeineGO:00310009.3DNMT1, DNMT3B, IGF1
36response to drugGO:00424939.2BLMH, CCND1, DNMT3B, XPC, XRCC1
37response to toxic substanceGO:00096369.2BLMH, DNMT1, DNMT3B, XPA
38positive regulation of transcription, DNA-templatedGO:00458939.1BRCA1, BRCA2, ERCC2, IGF1, TP53
39response to hypoxiaGO:00016669.0DNMT3B, ERCC2, IGF1, XRCC1
40nucleotide-excision repairGO:00062899.0BRCA2, ERCC2, RAD23B, TP53, XPA, XPC
41response to estradiolGO:00323559.0BRCA1, BRCA2, CCND1, DNMT1, DNMT3B
42cellular response to DNA damage stimulusGO:00069748.7BRCA1, BRCA2, CCND1, RAD23B, TP53, XPC

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1double-stranded DNA bindingGO:000369010.3DNMT1, TP53, XRCC3
2DNA (cytosine-5-)-methyltransferase activityGO:000388610.2DNMT1, DNMT3B
3DNA (cytosine-5-)-methyltransferase activity, acting on CpG substratesGO:005171810.2DNMT1, DNMT3B
4DNA-methyltransferase activityGO:000900810.2DNMT1, DNMT3B
5enzyme bindingGO:00198999.8BRCA1, CCND1, GSTM1, TP53, XRCC1
6histone deacetylase bindingGO:00428269.7CCND1, DNMT1, DNMT3B
7damaged DNA bindingGO:00036849.4BRCA1, RAD23B, TP53, XPA, XPC, XRCC1
8unmethylated CpG bindingGO:00453229.4DNMT1, DNMT3B
9single-stranded DNA bindingGO:00036979.3BRCA2, RAD23B, XPC, XRCC3
10protein bindingGO:00055155.0BLMH, BRCA1, BRCA2, CCND1, DNMT1, DNMT3B

Sources for Mutagen Sensitivity

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet