MCID: MTG002
MIFTS: 41

Mutagen Sensitivity

Categories: Rare diseases

Aliases & Classifications for Mutagen Sensitivity

MalaCards integrated aliases for Mutagen Sensitivity:

Name: Mutagen Sensitivity 57 53

Classifications:



External Ids:

OMIM 57 610452

Summaries for Mutagen Sensitivity

MalaCards based summary : Mutagen Sensitivity is related to sporadic breast cancer and oral 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 87)
# Related Disease Score Top Affiliating Genes
1 sporadic breast cancer 29.8 BRCA1 BRCA2 TP53 XRCC1
2 oral cancer 29.8 CCND1 GSTM1 GSTT1 TP53
3 squamous cell carcinoma, head and neck 29.3 CCND1 GSTM1 GSTT1 TP53
4 nasopharyngeal carcinoma 27.6 CCND1 DNMT1 DNMT3B GSTM1 TP53 XRCC1
5 colorectal cancer 24.1 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B GSTM1
6 hearing loss, noise-induced 10.8 GSTM1 GSTT1
7 hereditary site-specific ovarian cancer syndrome 10.8 BRCA1 BRCA2
8 breast reconstruction 10.7 BRCA1 BRCA2
9 tuberculous salpingitis 10.7 BRCA1 BRCA2
10 nosophobia 10.7 BRCA1 BRCA2
11 cancerophobia 10.7 BRCA1 BRCA2
12 senile cataract 10.6 GSTM1 GSTT1 XRCC1
13 isolated cleft lip 10.6 GSTM1 GSTT1
14 drug-induced hepatitis 10.5 GSTM1 GSTT1 NAT2
15 oral cavity cancer 10.5 GSTM1 GSTT1 TP53
16 sister chromatid exchange, frequency of 10.4 BRCA1 GSTM1 GSTT1 XRCC1
17 uterine corpus serous adenocarcinoma 10.4 BRCA1 BRCA2 TP53
18 fallopian tube adenocarcinoma 10.4 BRCA1 BRCA2 TP53
19 glycogen-rich clear cell breast carcinoma 10.4 BRCA1 BRCA2 TP53
20 tetraploidy 10.4 BRCA2 TP53
21 papillary serous adenocarcinoma 10.4 BRCA1 TP53
22 primary peritoneal carcinoma 10.4 BRCA1 BRCA2 TP53
23 fallopian tube carcinoma 10.4 BRCA1 BRCA2 TP53
24 acute lymphocytic leukemia 10.4 GSTM1 GSTT1 TP53
25 differentiated thyroid carcinoma 10.4 TP53 XRCC1 XRCC3
26 ovarian cancer 1 10.4 BRCA1 BRCA2 TP53
27 malignant ovarian surface epithelial-stromal neoplasm 10.4 BRCA1 BRCA2 TP53
28 ovary epithelial cancer 10.4 BRCA1 BRCA2 TP53
29 breast carcinoma in situ 10.4 BRCA1 BRCA2 TP53
30 breast-ovarian cancer, familial 1 10.4 BRCA1 BRCA2
31 female breast cancer 10.4 BRCA1 BRCA2 TP53
32 hereditary breast ovarian cancer syndrome 10.4 BRCA1 BRCA2 TP53
33 li-fraumeni syndrome 10.2 BRCA1 BRCA2 TP53
34 non-proliferative fibrocystic change of the breast 10.2 CCND1 TP53 XRCC1
35 lung cancer 10.2
36 pharynx cancer 10.2 CCND1 GSTM1 TP53
37 diffuse gastric cancer 10.2 ERCC2 GSTM1 GSTT1 XRCC3
38 peritoneum cancer 10.1 BRCA1 BRCA2
39 xeroderma pigmentosum group e 10.1 RAD23B XPA XPC
40 xeroderma pigmentosum, complementation group c 10.1 RAD23B XPA XPC
41 respiratory system cancer 10.1 CCND1 GSTM1 TP53
42 squamous cell carcinoma 10.1
43 breast ductal carcinoma 10.0 BRCA1 CCND1 TP53
44 ocular cancer 10.0 BRCA2 CCND1 TP53
45 breast cancer 10.0
46 oral leukoplakia 10.0 CCND1 GSTM1 TP53 XRCC1
47 xeroderma pigmentosum, complementation group b 9.9 ERCC2 RAD23B XPA
48 melanoma 9.9
49 glioma 9.9
50 multiple chemical sensitivity 9.9 GSTT1 NAT2

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.05 TP53 XRCC1 XRCC3 BRCA1 BRCA2 DNMT3B
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.05 DNMT3B TP53 XRCC1 XRCC3 BRCA1 BRCA2
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10 BRCA1 BRCA2 DNMT1 DNMT3B ERCC2 RAD23B
4 Increased cell death HMECs cells GR00103-A-0 9.72 BRCA1 DNMT1 DNMT3B RAD23B TP53
5 Synthetic lethal with cisplatin GR00101-A-1 9.33 BRCA1 BRCA2 XRCC3
6 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:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 BLMH BRCA1 BRCA2 CCND1 DNMT1 ERCC2
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 ERCC2 BLMH BRCA1 BRCA2 CCND1 IGF1
5 mortality/aging MP:0010768 10.28 BLMH BRCA1 BRCA2 CCND1 DNMT1 DNMT3B
6 immune system MP:0005387 10.27 XRCC3 BLMH BRCA1 BRCA2 CCND1 DNMT1
7 hematopoietic system MP:0005397 10.22 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
8 integument MP:0010771 10.22 RAD23B TP53 XPA XPC BLMH BRCA1
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 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 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 ERCC2 TP53 XPA BRCA1 DNMT1
17 skeleton MP:0005390 9.56 BRCA1 BRCA2 CCND1 DNMT3B ERCC2 IGF1
18 vision/eye MP:0005391 9.17 ERCC2 RAD23B TP53 XPA XPC CCND1

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:

41
Lung, Testes, Skin, Colon

Publications for Mutagen Sensitivity

Articles related to Mutagen Sensitivity:

(show top 50) (show all 124)
# Title Authors Year
1
Application of mutagen sensitivity assay in a glioma case-control study. ( 29854587 )
2018
2
Increased Mutagen Sensitivity and DNA Damage in Pulmonary Arterial Hypertension. ( 25918951 )
2015
3
4-Nitroquinoline-1-oxide-induced mutagen sensitivity and risk of cutaneous melanoma: a case-control analysis. ( 24977319 )
2014
4
Mutagen sensitivity as measured by induced chromatid breakage as a marker of cancer risk. ( 24623229 )
2014
5
Chemoprevention by celecoxib and mutagen sensitivity of cyclin d1 in patients with oropharyngeal carcinoma. ( 24425835 )
2014
6
Bleomycin-induced mutagen sensitivity, passive smoking, and risk of breast cancer in Chinese women: a case-control study. ( 23371556 )
2013
7
Gamma-ray-induced mutagen sensitivity and risk of sporadic breast cancer in young women: a case-control study. ( 22218884 )
2012
8
DNA repair and mutagen sensitivity of epithelial cells and lymphocytes in oropharyngeal cancer. ( 22740863 )
2012
9
Evaluating the effects of genetic variants of DNA repair genes using cytogenetic mutagen sensitivity approaches. ( 21595606 )
2011
10
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
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
Mutagen sensitivity, tobacco smoking and breast cancer risk: a case-control study. ( 20110285 )
2010
14
Chromosomal alterations and mutagen sensitivity in human mucosal cells of the oropharynx and lymphocytes caused by BPDE. ( 19996129 )
2009
15
Haplotypes of DNMT1 and DNMT3B are associated with mutagen sensitivity induced by benzo[a]pyrene diol epoxide among smokers. ( 18499700 )
2008
16
Inherited susceptibility to bleomycin-induced micronuclei: correlating polymorphisms in GSTT1, GSTM1 and DNA repair genes with mutagen sensitivity. ( 17953974 )
2008
17
Micronuclei frequency induced by bleomycin in human peripheral lymphocytes: correlating BLHX polymorphism with mutagen sensitivity. ( 18082847 )
2008
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: a genetic predisposition factor for cancer. ( 17440053 )
2007
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 and neoplastic progression in patients with Barrett's esophagus: a prospective analysis. ( 17035402 )
2006
24
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
25
DNA damage, oxidative mutagen sensitivity, and repair of oxidative DNA damage in nonmelanoma skin cancer patients. ( 16673411 )
2006
26
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
27
Reliability of mutagen sensitivity assay: an inter-laboratory comparison. ( 16870697 )
2006
28
Mutagen sensitivity has high heritability: evidence from a twin study. ( 16778168 )
2006
29
Mutagen sensitivity of patients with cancer at different sites of the head and neck. ( 16105906 )
2005
30
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
31
Mutagen sensitivity may predict lung protection by amifostine for patients with locally advanced non-small cell lung cancer treated by chemoradiotherapy. ( 16015542 )
2005
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
Chromosomal mutagen sensitivity associated with mutations in BRCA genes. ( 15162060 )
2004
35
Differential mutagen sensitivity of peripheral blood lymphocytes from smokers and nonsmokers: effect of human cytomegalovirus infection. ( 15065204 )
2004
36
Inter-rater agreement on chromosome 5 breakage in FISH-based mutagen sensitivity assays (MSAs). ( 15279836 )
2004
37
Mutagen sensitivity of human lymphoblastoid cells with a BRCA1 mutation. ( 12611459 )
2003
38
Mutagen sensitivity assays in population studies. ( 14644328 )
2003
39
From genotype to phenotype: correlating XRCC1 polymorphisms with mutagen sensitivity. ( 12893086 )
2003
40
Mutagen sensitivity as a susceptibility marker for endometriosis. ( 14507820 )
2003
41
Assessment of insulin-like growth factors and mutagen sensitivity as predictors of lung cancer risk. ( 12407747 )
2003
42
Involvement of cell cycle control in bleomycin-induced mutagen sensitivity. ( 12203399 )
2002
43
Mutagen sensitivity of peripheral blood from women carrying a BRCA1 or BRCA2 mutation. ( 11890937 )
2002
44
Randomized, placebo-controlled trial of dietary supplementation of alpha-tocopherol on mutagen sensitivity levels in melanoma patients: a pilot trial. ( 11828262 )
2002
45
Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagen sensitivity. ( 12082022 )
2002
46
Construction of green fluorescent protein reporter genes for genotoxicity test (SOS/umu-test) and improvement of mutagen-sensitivity. ( 16233101 )
2001
47
Mutagen sensitivity of nasopharyngeal cancer patients. ( 11287308 )
2001
48
Mutagen sensitivity and p53 expression in colorectal cancer in China. ( 11677281 )
2001
49
Rapid screening assay for mutagen sensitivity and DNA repair capacity in human peripheral blood lymphocytes. ( 11139596 )
2001
50
Mutagen sensitivity as an indicator of soft tissue sarcoma risk. ( 11746758 )
2001

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 23)
# 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
Show member pathways
12.63 BRCA1 BRCA2 CCND1 IGF1 TP53
4 12.63 BRCA2 CCND1 GSTM1 GSTT1 IGF1 TP53
5
Show member pathways
12.58 BRCA1 BRCA2 CCND1 GSTM1 GSTT1 IGF1
6 12.35 BRCA1 CCND1 DNMT1 DNMT3B TP53
7
Show member pathways
12.24 BRCA1 CCND1 IGF1 TP53
8 12.08 BRCA1 BRCA2 CCND1 ERCC2 RAD23B TP53
9 11.99 BRCA1 BRCA2 CCND1 TP53 XRCC3
10
Show member pathways
11.93 BRCA1 BRCA2 CCND1 ERCC2 IGF1 RAD23B
11 11.92 ERCC2 TP53 XPA XPC
12
Show member pathways
11.89 CCND1 IGF1 TP53
13 11.82 CCND1 IGF1 TP53
14
Show member pathways
11.82 ERCC2 RAD23B XPA XPC
15 11.71 CCND1 DNMT1 TP53
16
Show member pathways
11.68 BRCA1 BRCA2 TP53
17 11.43 BRCA1 CCND1 TP53
18 11.42 BRCA1 GSTM1 GSTT1 TP53 XPA
19 11.34 BRCA1 CCND1 TP53
20 11.25 BRCA2 CCND1 XRCC1
21 11.18 BRCA1 CCND1 TP53
22 11.02 ERCC2 GSTM1 GSTT1 XPA
23 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 cytoplasm GO:0005737 9.83 BLMH BRCA1 BRCA2 CCND1 DNMT3B ERCC2
2 nuclear chromosome, telomeric region GO:0000784 9.58 BRCA2 XRCC1 XRCC3
3 nucleoplasm GO:0005654 9.4 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
4 lateral element GO:0000800 9.37 BRCA1 BRCA2
5 replication fork GO:0005657 9.33 DNMT1 TP53 XRCC3
6 XPC complex GO:0071942 9.26 RAD23B XPC
7 nucleus GO:0005634 10.13 BLMH BRCA1 BRCA2 CCND1 DNMT1 DNMT3B

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.99 BRCA1 DNMT1 DNMT3B IGF1 TP53
2 response to drug GO:0042493 9.95 BLMH CCND1 DNMT3B XPC XRCC1
3 DNA recombination GO:0006310 9.83 BRCA1 BRCA2 XRCC3
4 response to toxic substance GO:0009636 9.83 BLMH DNMT3B XPA
5 response to organic substance GO:0010033 9.83 CCND1 IGF1 XRCC1 XRCC3
6 Ras protein signal transduction GO:0007265 9.8 DNMT1 IGF1 TP53
7 transcription-coupled nucleotide-excision repair GO:0006283 9.79 ERCC2 XPA XRCC1
8 response to ionizing radiation GO:0010212 9.78 BRCA1 DNMT3B XRCC3
9 double-strand break repair via homologous recombination GO:0000724 9.78 BRCA1 BRCA2 XRCC1 XRCC3
10 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.77 BRCA1 BRCA2 XPA
11 DNA repair GO:0006281 9.76 BRCA1 BRCA2 ERCC2 RAD23B XPA XPC
12 base-excision repair GO:0006284 9.74 TP53 XPA XRCC1
13 DNA synthesis involved in DNA repair GO:0000731 9.73 BRCA1 BRCA2 XRCC3
14 strand displacement GO:0000732 9.71 BRCA1 BRCA2 XRCC3
15 global genome nucleotide-excision repair GO:0070911 9.71 ERCC2 RAD23B XPA XPC
16 response to X-ray GO:0010165 9.69 BRCA2 CCND1 TP53
17 nucleotide-excision repair, DNA damage recognition GO:0000715 9.67 RAD23B XPA XPC
18 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.66 ERCC2 XPA
19 UV protection GO:0009650 9.65 ERCC2 XPA
20 telomere maintenance via recombination GO:0000722 9.64 BRCA2 XRCC3
21 UV-damage excision repair GO:0070914 9.64 XPA XPC
22 response to auditory stimulus GO:0010996 9.63 XPA XPC
23 mitotic G1 DNA damage checkpoint GO:0031571 9.63 CCND1 TP53
24 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.63 BRCA1 BRCA2 TP53
25 nucleotide-excision repair, preincision complex assembly GO:0006294 9.62 ERCC2 RAD23B XPA XPC
26 regulation of mitotic cell cycle phase transition GO:1901990 9.61 ERCC2 XPC
27 positive regulation of histone H3-K4 methylation GO:0051571 9.61 BRCA1 DNMT1 DNMT3B
28 chordate embryonic development GO:0043009 9.58 BRCA1 BRCA2
29 C-5 methylation of cytosine GO:0090116 9.58 DNMT1 DNMT3B
30 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.56 ERCC2 RAD23B XPA XPC
31 negative regulation of histone H3-K9 methylation GO:0051573 9.54 BRCA1 DNMT1 DNMT3B
32 nucleotide-excision repair GO:0006289 9.43 BRCA2 ERCC2 RAD23B TP53 XPA XPC
33 cellular response to DNA damage stimulus GO:0006974 9.32 BRCA1 BRCA2 CCND1 ERCC2 RAD23B TP53
34 positive regulation of transcription, DNA-templated GO:0045893 10.05 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 protein binding GO:0005515 9.89 BLMH BRCA1 BRCA2 CCND1 DNMT1 DNMT3B
2 enzyme binding GO:0019899 9.72 BRCA1 CCND1 GSTM1 TP53 XRCC1
3 histone deacetylase binding GO:0042826 9.61 CCND1 DNMT3B TP53
4 single-stranded DNA binding GO:0003697 9.46 BRCA2 RAD23B XPC XRCC3
5 DNA-methyltransferase activity GO:0009008 9.37 DNMT1 DNMT3B
6 DNA (cytosine-5-)-methyltransferase activity GO:0003886 9.26 DNMT1 DNMT3B
7 damaged DNA binding GO:0003684 9.1 BRCA1 RAD23B TP53 XPA XPC XRCC1
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
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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