MCID: MTG002
MIFTS: 41

Mutagen Sensitivity

Categories: Rare diseases

Aliases & Classifications for Mutagen Sensitivity

MalaCards integrated aliases for Mutagen Sensitivity:

Name: Mutagen Sensitivity 53 49

Classifications:



External Ids:

OMIM 53 610452

Summaries for Mutagen Sensitivity

MalaCards based summary : Mutagen Sensitivity is related to oral cancer and sporadic breast 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, testes and skin, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Description from OMIM: 610452

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 89)
# Related Disease Score Top Affiliating Genes
1 oral cancer 29.8 CCND1 GSTM1 GSTT1 TP53
2 sporadic breast cancer 29.7 BRCA1 BRCA2 TP53 XRCC1
3 squamous cell carcinoma, head and neck 29.5 CCND1 GSTM1 GSTT1 TP53
4 nasopharyngeal carcinoma 28.1 CCND1 DNMT1 DNMT3B GSTM1 GSTT1 TP53
5 lung cancer 28.0 CCND1 DNMT1 DNMT3B ERCC2 GSTM1 GSTT1
6 breast cancer 26.9 BRCA1 BRCA2 CCND1 DNMT3B IGF1 NAT2
7 colorectal cancer 26.1 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B GSTM1
8 hearing loss, noise-induced 10.5 GSTM1 GSTT1
9 hereditary site-specific ovarian cancer syndrome 10.5 BRCA1 BRCA2
10 brca1 hereditary breast and ovarian cancer syndrome 10.5 BRCA1 BRCA2
11 sister chromatid exchange, frequency of 10.4 GSTM1 GSTT1 XRCC1
12 breast reconstruction 10.4 BRCA1 BRCA2
13 tuberculous salpingitis 10.4 BRCA1 BRCA2
14 nosophobia 10.4 BRCA1 BRCA2
15 cancerophobia 10.4 BRCA1 BRCA2
16 senile cataract 10.4 GSTM1 GSTT1 XRCC1
17 breast-ovarian cancer, familial 1 10.4 BRCA1 BRCA2
18 acute lymphoblastic leukemia, childhood 10.4 GSTM1 GSTT1 XRCC1
19 isolated cleft lip 10.4 GSTM1 GSTT1
20 squamous cell carcinoma of the larynx 10.3 GSTM1 TP53
21 drug-induced hepatitis 10.3 GSTM1 GSTT1 NAT2
22 uterine corpus serous adenocarcinoma 10.3 BRCA1 BRCA2 TP53
23 lynch syndrome i 10.3 BRCA1 BRCA2
24 fallopian tube adenocarcinoma 10.3 BRCA1 BRCA2 TP53
25 glycogen-rich clear cell breast carcinoma 10.3 BRCA1 BRCA2 TP53
26 tetraploidy 10.3 BRCA2 TP53
27 primary peritoneal carcinoma 10.3 BRCA1 BRCA2 TP53
28 differentiated thyroid carcinoma 10.3 TP53 XRCC1 XRCC3
29 fallopian tube carcinoma 10.3 BRCA1 BRCA2 TP53
30 malignant ovarian surface epithelial-stromal neoplasm 10.2 BRCA1 BRCA2 TP53
31 ovary epithelial cancer 10.2 BRCA1 BRCA2 TP53
32 acute lymphocytic leukemia 10.2 GSTM1 GSTT1 TP53
33 hereditary breast ovarian cancer syndrome 10.2 BRCA1 BRCA2 TP53
34 breast carcinoma in situ 10.2 BRCA1 BRCA2 TP53
35 oral leukoplakia 10.2 GSTM1 GSTT1 TP53 XRCC1
36 ovarian cancer 1 10.2 BRCA1 BRCA2 TP53
37 li-fraumeni syndrome 10.2 BRCA1 BRCA2 TP53
38 non-proliferative fibrocystic change of the breast 10.2 CCND1 TP53 XRCC1
39 peritoneum cancer 10.1 BRCA1 BRCA2
40 papillary serous adenocarcinoma 10.1 BRCA1 TP53
41 pharynx cancer 10.1 CCND1 GSTM1 TP53
42 diffuse gastric cancer 10.1 ERCC2 GSTM1 GSTT1 XRCC3
43 xeroderma pigmentosum group e 10.1 RAD23B XPA XPC
44 xeroderma pigmentosum, complementation group c 10.1 RAD23B XPA XPC
45 squamous cell carcinoma 10.1
46 breast ductal carcinoma 10.0 BRCA1 CCND1 TP53
47 ocular cancer 10.0 BRCA2 CCND1 TP53
48 xeroderma pigmentosum, complementation group b 10.0 ERCC2 RAD23B XPA
49 melanoma 9.9
50 cockayne syndrome b 9.9 ERCC2 XPA

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



Diseases related to Mutagen Sensitivity

Symptoms & Phenotypes for Mutagen Sensitivity

Clinical features from OMIM:

610452

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.05 XRCC1 XRCC3 BRCA1 BRCA2 DNMT3B TP53
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.05 TP53 XRCC1 XRCC3 BRCA1 BRCA2 CCND1
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10 BRCA1 BRCA2 DNMT1 DNMT3B ERCC2 RAD23B
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 BRCA2 DNMT1 RAD23B XPC XRCC3 BLMH

MGI Mouse Phenotypes related to Mutagen Sensitivity:

43 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 TP53 XPA XPC XRCC1 BLMH BRCA1
2 growth/size/body region MP:0005378 10.35 TP53 XPA XPC XRCC1 BLMH BRCA1
3 cellular MP:0005384 10.34 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
4 homeostasis/metabolism MP:0005376 10.29 XPA XPC XRCC1 BLMH BRCA1 BRCA2
5 mortality/aging MP:0010768 10.28 RAD23B TP53 XPA XPC XRCC1 XRCC3
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 BRCA2 CCND1 DNMT1 ERCC2 IGF1 RAD23B
9 endocrine/exocrine gland MP:0005379 10.2 BRCA1 BRCA2 CCND1 DNMT3B ERCC2 IGF1
10 neoplasm MP:0002006 10.14 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
11 nervous system MP:0003631 10.11 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
12 adipose tissue MP:0005375 10.05 IGF1 RAD23B TP53 XPA BRCA1 ERCC2
13 limbs/digits/tail MP:0005371 9.93 BLMH BRCA1 BRCA2 IGF1 TP53 XPA
14 normal MP:0002873 9.92 BRCA1 BRCA2 CCND1 DNMT1 IGF1 RAD23B
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 IGF1 TP53 BRCA1 XPA BRCA2 CCND1
18 vision/eye MP:0005391 9.17 CCND1 DNMT3B ERCC2 RAD23B TP53 XPA

Drugs & Therapeutics for Mutagen Sensitivity

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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:

38
Lung, Testes, Skin, Colon

Publications for Mutagen Sensitivity

Articles related to Mutagen Sensitivity:

(show top 50) (show all 123)
# Title Authors Year
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
4-Nitroquinoline-1-oxide-induced mutagen sensitivity and risk of cutaneous melanoma: a case-control analysis. ( 24977319 )
2014
4
Chemoprevention by celecoxib and mutagen sensitivity of cyclin d1 in patients with oropharyngeal carcinoma. ( 24425835 )
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
Evaluating the effects of genetic variants of DNA repair genes using cytogenetic mutagen sensitivity approaches. ( 21595606 )
2011
9
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
10
Mutagen sensitivity, tobacco smoking and breast cancer risk: a case-control study. ( 20110285 )
2010
11
Mutagen sensitivity in oral cancer patients, healthy tobacco chewers and controls. ( 20391973 )
2010
12
Mutagen sensitivity and DNA repair of the EGFR gene in oropharyngeal cancer. ( 20400363 )
2010
13
Chromosomal alterations and mutagen sensitivity in human mucosal cells of the oropharynx and lymphocytes caused by BPDE. ( 19996129 )
2009
14
Inherited susceptibility to bleomycin-induced micronuclei: correlating polymorphisms in GSTT1, GSTM1 and DNA repair genes with mutagen sensitivity. ( 17953974 )
2008
15
Micronuclei frequency induced by bleomycin in human peripheral lymphocytes: correlating BLHX polymorphism with mutagen sensitivity. ( 18082847 )
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 and genetic variants in nucleotide excision repair pathway: genotype-phenotype correlation. ( 17932354 )
2007
18
4-Nitroquinoline-1-oxide-induced mutagen sensitivity and risk of nonmelanoma skin cancer: a case-control analysis. ( 16841033 )
2007
19
Mutagen sensitivity: a genetic predisposition factor for cancer. ( 17440053 )
2007
20
Interplay between mutagen sensitivity and epidemiological factors in modulatinglung cancer risk. ( 17290394 )
2007
21
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
22
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
23
Mutagen sensitivity has high heritability: evidence from a twin study. ( 16778168 )
2006
24
Reliability of mutagen sensitivity assay: an inter-laboratory comparison. ( 16870697 )
2006
25
Mutagen sensitivity and neoplastic progression in patients with Barrett's esophagus: a prospective analysis. ( 17035402 )
2006
26
DNA damage, oxidative mutagen sensitivity, and repair of oxidative DNA damage in nonmelanoma skin cancer patients. ( 16673411 )
2006
27
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
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 may predict lung protection by amifostine for patients with locally advanced non-small cell lung cancer treated by chemoradiotherapy. ( 16015542 )
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
Differential mutagen sensitivity of peripheral blood lymphocytes from smokers and nonsmokers: effect of human cytomegalovirus infection. ( 15065204 )
2004
34
Chromosomal mutagen sensitivity associated with mutations in BRCA genes. ( 15162060 )
2004
35
Aphidicolin and bleomycin induced chromosome damage as biomarker of mutagen sensitivity: a twin study. ( 14757193 )
2004
36
Mutagen sensitivity as a susceptibility marker for endometriosis. ( 14507820 )
2003
37
Mutagen sensitivity assays in population studies. ( 14644328 )
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 of human lymphoblastoid cells with a BRCA1 mutation. ( 12611459 )
2003
41
Randomized, placebo-controlled trial of dietary supplementation of alpha-tocopherol on mutagen sensitivity levels in melanoma patients: a pilot trial. ( 11828262 )
2002
42
Mutagen sensitivity of peripheral blood from women carrying a BRCA1 or BRCA2 mutation. ( 11890937 )
2002
43
Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagen sensitivity. ( 12082022 )
2002
44
Involvement of cell cycle control in bleomycin-induced mutagen sensitivity. ( 12203399 )
2002
45
Construction of green fluorescent protein reporter genes for genotoxicity test (SOS/umu-test) and improvement of mutagen-sensitivity. ( 16233101 )
2001
46
Rapid screening assay for mutagen sensitivity and DNA repair capacity in human peripheral blood lymphocytes. ( 11139596 )
2001
47
Mutagen sensitivity and p53 expression in colorectal cancer in China. ( 11677281 )
2001
48
Mutagen sensitivity of nasopharyngeal cancer patients. ( 11287308 )
2001
49
Mutagen sensitivity as an indicator of soft tissue sarcoma risk. ( 11746758 )
2001
50
Joint effect of insulin-like growth factors and mutagen sensitivity in lung cancer risk. ( 10793110 )
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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 BRCA1 BRCA2 ERCC2 RAD23B TP53 XPA
2
Show member pathways
12.71 ERCC2 RAD23B XPA XPC XRCC1
3 12.63 BRCA2 CCND1 GSTM1 GSTT1 IGF1 TP53
4
Show member pathways
12.58 BRCA1 BRCA2 CCND1 GSTM1 GSTT1 IGF1
5 12.37 BRCA1 CCND1 DNMT1 DNMT3B TP53
6
Show member pathways
12.22 BRCA1 CCND1 IGF1 TP53
7 12.08 BRCA1 BRCA2 CCND1 ERCC2 RAD23B TP53
8 11.99 BRCA1 BRCA2 CCND1 TP53 XRCC3
9
Show member pathways
11.93 BRCA1 BRCA2 CCND1 ERCC2 IGF1 RAD23B
10 11.92 ERCC2 TP53 XPA XPC
11
Show member pathways
11.82 ERCC2 RAD23B XPA XPC
12 11.81 CCND1 IGF1 TP53
13 11.7 CCND1 DNMT1 TP53
14
Show member pathways
11.66 BRCA1 BRCA2 TP53
15 11.43 BRCA1 CCND1 TP53
16 11.42 BRCA1 GSTM1 GSTT1 TP53 XPA
17 11.34 BRCA1 CCND1 TP53
18 11.25 BRCA2 CCND1 XRCC1
19 11.16 BRCA1 CCND1 TP53
20 11.02 ERCC2 GSTM1 GSTT1 XPA
21 10.88 BRCA1 TP53

GO Terms for Mutagen Sensitivity

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

# 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 36)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.98 BRCA1 DNMT1 DNMT3B IGF1 TP53
2 response to drug GO:0042493 9.91 BLMH CCND1 DNMT3B TP53 XPC XRCC1
3 DNA recombination GO:0006310 9.85 BRCA1 BRCA2 XRCC3
4 response to toxic substance GO:0009636 9.84 BLMH DNMT3B XPA
5 response to organic substance GO:0010033 9.83 CCND1 XRCC1 XRCC3
6 transcription-coupled nucleotide-excision repair GO:0006283 9.8 ERCC2 XPA XRCC1
7 double-strand break repair via homologous recombination GO:0000724 9.8 BRCA1 BRCA2 XRCC1 XRCC3
8 Ras protein signal transduction GO:0007265 9.79 DNMT1 IGF1 TP53
9 response to ionizing radiation GO:0010212 9.78 BRCA1 DNMT3B XRCC3
10 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.77 BRCA1 BRCA2 XPA
11 response to UV GO:0009411 9.77 ERCC2 TP53 XPA
12 DNA repair GO:0006281 9.76 BRCA1 BRCA2 ERCC2 RAD23B XPA XPC
13 base-excision repair GO:0006284 9.74 TP53 XPA XRCC1
14 DNA synthesis involved in DNA repair GO:0000731 9.72 BRCA1 BRCA2 XRCC3
15 strand displacement GO:0000732 9.71 BRCA1 BRCA2 XRCC3
16 global genome nucleotide-excision repair GO:0070911 9.71 ERCC2 RAD23B XPA XPC
17 response to X-ray GO:0010165 9.7 BRCA2 CCND1 TP53
18 nucleotide-excision repair, DNA damage recognition GO:0000715 9.69 RAD23B XPA XPC
19 UV protection GO:0009650 9.66 ERCC2 XPA
20 response to caffeine GO:0031000 9.65 DNMT3B TP53
21 response to auditory stimulus GO:0010996 9.65 XPA XPC
22 positive regulation of histone H3-K4 methylation GO:0051571 9.65 BRCA1 DNMT1 DNMT3B
23 response to UV-B GO:0010224 9.64 TP53 XPC
24 UV-damage excision repair GO:0070914 9.64 XPA XPC
25 mitotic G1 DNA damage checkpoint GO:0031571 9.63 CCND1 TP53
26 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.63 BRCA1 BRCA2 TP53
27 telomere maintenance via recombination GO:0000722 9.62 BRCA2 XRCC3
28 regulation of mitotic cell cycle phase transition GO:1901990 9.62 ERCC2 XPC
29 nucleotide-excision repair, preincision complex assembly GO:0006294 9.62 ERCC2 RAD23B XPA XPC
30 chordate embryonic development GO:0043009 9.58 BRCA1 BRCA2
31 C-5 methylation of cytosine GO:0090116 9.56 DNMT1 DNMT3B
32 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.56 ERCC2 RAD23B XPA XPC
33 negative regulation of histone H3-K9 methylation GO:0051573 9.54 BRCA1 DNMT1 DNMT3B
34 nucleotide-excision repair GO:0006289 9.43 BRCA2 ERCC2 RAD23B TP53 XPA XPC
35 cellular response to DNA damage stimulus GO:0006974 9.32 BRCA1 BRCA2 CCND1 ERCC2 RAD23B TP53
36 positive regulation of transcription, DNA-templated GO:0045893 10.06 BRCA1 BRCA2 ERCC2 IGF1 TP53

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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