MCID: MTG002
MIFTS: 35

Mutagen Sensitivity

Categories: Rare diseases

Aliases & Classifications for Mutagen Sensitivity

MalaCards integrated aliases for Mutagen Sensitivity:

Name: Mutagen Sensitivity 57 20

Classifications:



External Ids:

OMIM® 57 610452

Summaries for Mutagen Sensitivity

MalaCards based summary : Mutagen Sensitivity is related to ataxia-telangiectasia and oral cancer. An important gene associated with Mutagen Sensitivity is GSTM1 (Glutathione S-Transferase Mu 1), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include breast, lung and skin, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

More information 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 163)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia 29.9 XRCC1 XPA TP53 BRCA2 BRCA1
2 oral cancer 29.9 TP53 GSTT1 GSTM1 CCND1
3 nasopharyngeal carcinoma 29.3 XRCC1 TP53 GSTM1 DNMT3B DNMT1 CCND1
4 sporadic breast cancer 29.2 XRCC3 XRCC1 TP53 CCND1 BRCA2 BRCA1
5 basal cell carcinoma 28.6 XRCC3 XRCC1 XPA TP53 GSTT1 GSTM1
6 skin carcinoma 28.4 XRCC3 XRCC1 XPC XPA TP53 GSTM1
7 xeroderma pigmentosum, variant type 27.9 XRCC3 XRCC1 XPC XPA TP53 RAD23B
8 hearing loss, noise-induced 10.4 GSTT1 GSTM1
9 thyroid tumor 10.4 GSTT1 GSTM1
10 fallopian tube clear cell adenocarcinoma 10.4 BRCA2 BRCA1
11 ovary transitional cell carcinoma 10.3 BRCA2 BRCA1
12 cancerophobia 10.3 BRCA2 BRCA1
13 nosophobia 10.3 BRCA2 BRCA1
14 isolated cleft lip 10.3 GSTT1 GSTM1
15 tetraploidy 10.3 BRCA2 BRCA1
16 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.3 BRCA2 BRCA1
17 ruvalcaba syndrome 10.3 BRCA2 BRCA1
18 familial ovarian cancer 10.3 BRCA2 BRCA1
19 hereditary site-specific ovarian cancer syndrome 10.3 BRCA2 BRCA1
20 breast-ovarian cancer, familial 2 10.3 BRCA2 BRCA1
21 sister chromatid exchange, frequency of 10.3 XRCC1 GSTT1 GSTM1
22 oral leukoplakia 10.3 XRCC1 GSTT1 GSTM1
23 trimethoprim allergy 10.3 NAT2 GSTM1
24 senile cataract 10.3 XRCC1 GSTT1 GSTM1
25 intracystic papillary adenoma 10.3 BRCA2 BRCA1
26 endosalpingiosis 10.3 BRCA2 BRCA1
27 toxic oil syndrome 10.2 NAT2 GSTM1
28 telangiectasis 10.2
29 oropharynx cancer 10.2
30 oligospermia 10.2 GSTT1 GSTM1 DNMT1
31 squamous cell carcinoma, head and neck 10.2
32 allergic disease 10.2
33 squamous cell carcinoma 10.2
34 ovarian serous adenofibroma 10.2 TP53 BRCA1
35 ovarian serous cystadenofibroma 10.1 TP53 BRCA1
36 ovarian carcinosarcoma 10.1 TP53 BRCA1
37 tobacco addiction 10.1 XRCC1 GSTT1 GSTM1
38 brain sarcoma 10.1 XPA TP53
39 basaloid lung carcinoma 10.1 TP53 BRCA2 BRCA1
40 diffuse gastric cancer 10.1 XRCC3 GSTT1 GSTM1 ERCC2
41 cervical adenoma malignum 10.1 TP53 BRCA2 BRCA1
42 primary peritoneal carcinoma 10.1 TP53 BRCA2 BRCA1
43 hypertrophy of breast 10.1 TP53 BRCA2 BRCA1
44 female reproductive endometrioid cancer 10.1 TP53 BRCA2 BRCA1
45 peritoneum cancer 10.1 TP53 BRCA2 BRCA1
46 conjunctival degeneration 10.1 XPA TP53
47 papillary serous adenocarcinoma 10.1 TP53 BRCA2 BRCA1
48 fallopian tube disease 10.1 TP53 BRCA2 BRCA1
49 lobular neoplasia 10.1 TP53 BRCA2 BRCA1
50 esophageal leukoplakia 10.1 TP53 CCND1

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 (Updated 05-Apr-2021)

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 10.16 BRCA1 BRCA2 XRCC1 XRCC3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.16 BRCA1 BRCA2 DNMT3B TP53 XRCC1 XRCC3
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.16 BRCA1 BRCA2 TP53 XRCC1 DNMT1 ERCC2
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:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 BLMH BRCA1 BRCA2 CCND1 DNMT1 DNMT3B
2 cellular MP:0005384 10.3 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
3 homeostasis/metabolism MP:0005376 10.29 BLMH BRCA1 BRCA2 CCND1 DNMT3B ERCC2
4 behavior/neurological MP:0005386 10.28 BLMH BRCA1 BRCA2 CCND1 DNMT1 ERCC2
5 integument MP:0010771 10.21 BLMH BRCA1 BRCA2 CCND1 DNMT1 DNMT3B
6 mortality/aging MP:0010768 10.21 BLMH BRCA1 BRCA2 CCND1 DNMT1 DNMT3B
7 immune system MP:0005387 10.2 BLMH BRCA1 BRCA2 CCND1 DNMT1 DNMT3B
8 endocrine/exocrine gland MP:0005379 10.16 BRCA1 BRCA2 CCND1 DNMT3B ERCC2 IGF1
9 neoplasm MP:0002006 10.06 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
10 nervous system MP:0003631 10 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
11 limbs/digits/tail MP:0005371 9.95 BLMH BRCA1 BRCA2 DNMT3B IGF1 TP53
12 normal MP:0002873 9.76 BRCA1 BRCA2 CCND1 DNMT1 IGF1 RAD23B
13 reproductive system MP:0005389 9.36 BRCA1 BRCA2 CCND1 DNMT1 DNMT3B ERCC2
14 pigmentation MP:0001186 9.35 BRCA1 DNMT1 ERCC2 TP53 XPA

Drugs & Therapeutics for Mutagen Sensitivity

Search Clinical Trials , NIH Clinical Center for Mutagen Sensitivity

Genetic Tests for Mutagen Sensitivity

Anatomical Context for Mutagen Sensitivity

MalaCards organs/tissues related to Mutagen Sensitivity:

40
Breast, Lung, Skin, Prostate, Bone Marrow, Whole Blood, Colon

Publications for Mutagen Sensitivity

Articles related to Mutagen Sensitivity:

(show top 50) (show all 288)
# Title Authors PMID Year
1
Mutagen sensitivity has high heritability: evidence from a twin study. 61 57
16778168 2006
2
Inherited susceptibility to bleomycin-induced chromatid breaks in cultured peripheral blood lymphocytes. 57 61
10393720 1999
3
Sensitivity to genotoxic effects of bleomycin in humans: possible relationship to environmental carcinogenesis. 57 61
2466800 1989
4
[Mutagen sensitivity and risk of second cancer in young patients with head and neck squamous cell cancer]. 61
33730115 2021
5
The msh1 gene is responsible for short life span mutant natural death and functions to maintain mitochondrial DNA integrity. 61
32949723 2020
6
The Genetic Basis of Mutation Rate Variation in Yeast. 61
30504363 2019
7
The Role of Micronucleus Assay to Detect Genetic Instability in Respiratory Cancer Patients. 61
32464005 2019
8
Reduced intrinsic DNA curvature leads to increased mutation rate. 61
30217230 2018
9
Bleomycin-induced chromosomal damage and shortening of telomeres in peripheral blood lymphocytes of incident cancer patients. 61
29052312 2018
10
Application of mutagen sensitivity assay in a glioma case-control study. 61
29854587 2018
11
Phenotypic analysis of newly isolated short-lifespan Neurospora crassa mutant deficient in a high mobility group box protein. 61
28602830 2017
12
The human, F-actin-based cytoskeleton as a mutagen sensor. 61
29255378 2017
13
DNA Damage and Pulmonary Hypertension. 61
27338373 2016
14
4-nitroquinoline-1-oxide-induced mutagen sensitivity and risk of cutaneous melanoma: a case-control analysis. 61
24977319 2016
15
Increased Mutagen Sensitivity and DNA Damage in Pulmonary Arterial Hypertension. 61
25918951 2015
16
Gene promoter methylation and DNA repair capacity in monozygotic twins with discordant smoking habits. 61
25813726 2015
17
Sak1 kinase interacts with Pso2 nuclease in response to DNA damage induced by interstrand crosslink-inducing agents in Saccharomyces cerevisiae. 61
24362320 2014
18
Chemoprevention by celecoxib and mutagen sensitivity of cyclin d1 in patients with oropharyngeal carcinoma. 61
24425835 2014
19
Mutagen sensitivity as measured by induced chromatid breakage as a marker of cancer risk. 61
24623229 2014
20
Risk assessment of esophageal adenocarcinoma using γ-H2AX assay. 61
23904462 2013
21
Bleomycin-induced mutagen sensitivity, passive smoking, and risk of breast cancer in Chinese women: a case-control study. 61
23371556 2013
22
DNA damage response in monozygotic twins discordant for smoking habits. 61
23132286 2013
23
An update on the Italian Twin Register: advances in cohort recruitment, project building and network development. 61
23088847 2013
24
The Twin Research Registry at SRI International. 61
23084148 2013
25
No short-term cytogenetic consequences of Hungarian red mud catastrophe. 61
22987023 2013
26
Investigations of potential susceptibility toward formaldehyde-induced genotoxicity. 61
22411273 2012
27
Gamma-ray-induced mutagen sensitivity and risk of sporadic breast cancer in young women: a case-control study. 61
22218884 2012
28
Heritability of radiation response in lung cancer families. 61
24704916 2012
29
Role of micronucleus test in predicting breast cancer susceptibility: a systematic review and meta-analysis. 61
22187037 2012
30
In vivo genotoxicity assessment in rats exposed to Prestige-like oil by inhalation. 61
22788363 2012
31
DNA repair and mutagen sensitivity of epithelial cells and lymphocytes in oropharyngeal cancer. 61
22740863 2012
32
Evaluating the effects of genetic variants of DNA repair genes using cytogenetic mutagen sensitivity approaches. 61
21595606 2011
33
Is individual nasal sensitivity related to cellular metabolism of formaldehyde and susceptibility towards formaldehyde-induced genotoxicity? 61
21497203 2011
34
Association of Rad51 polymorphism with DNA repair in BRCA1 mutation carriers and sporadic breast cancer risk. 61
21708019 2011
35
Genetic and modifying factors that determine the risk of brain tumors. 61
20528763 2011
36
A genetic variant near the PMAIP1/Noxa gene is associated with increased bleomycin sensitivity. 61
21106707 2011
37
Prospective analysis of DNA damage and repair markers of lung cancer risk from the Prostate, Lung, Colorectal and Ovarian (PLCO) Cancer Screening Trial. 61
20929901 2011
38
Cytokinesis-blocked micronucleus assay and cancer risk assessment. 61
21164189 2011
39
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. 61
21164199 2011
40
Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk. 61
20610542 2010
41
ATM and ATR homologes of Neurospora crassa are essential for normal cell growth and maintenance of chromosome integrity. 61
20553930 2010
42
Mutagen sensitivity and DNA repair of the EGFR gene in oropharyngeal cancer. 61
20400363 2010
43
A comprehensive haplotype analysis of the XPC genomic sequence reveals a cluster of genetic variants associated with sensitivity to tobacco-smoke mutagens. 61
20106949 2010
44
Mutagen sensitivity, tobacco smoking and breast cancer risk: a case-control study. 61
20110285 2010
45
Mutagen sensitivity in oral cancer patients, healthy tobacco chewers and controls. 61
20391973 2010
46
Spontaneous and bleomycin-induced chromosome damage in non cancer thyroid patients. 61
19807783 2009
47
Chromosomal alterations and mutagen sensitivity in human mucosal cells of the oropharynx and lymphocytes caused by BPDE. 61
19996129 2009
48
Chromosomal alterations in mini organ cultures of human oropharyngeal mucosa cells caused by hydrogen peroxide. 61
19996133 2009
49
Molecular epidemiology of primary brain tumors. 61
19560733 2009
50
[Cytogenetic and hormonal changes in head and neck squamous cell cancer patients: potential biomarkers for functional approaches in surgical oncology]. 61
19581182 2009

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
12.91 XRCC3 XRCC1 XPC XPA TP53 RAD23B
2
Show member pathways
12.72 XRCC1 XPC XPA RAD23B ERCC2
3 12.64 TP53 IGF1 GSTT1 GSTM1 CCND1 BRCA2
4
Show member pathways
12.58 TP53 IGF1 GSTT1 GSTM1 CCND1 BRCA2
5
Show member pathways
12.54 TP53 IGF1 CCND1 BRCA2 BRCA1
6 12.38 TP53 DNMT3B DNMT1 CCND1 BRCA1
7
Show member pathways
12.24 TP53 IGF1 CCND1 BRCA1
8 12.08 XRCC1 XPC XPA TP53 RAD23B ERCC2
9 11.99 XRCC3 TP53 CCND1 BRCA2 BRCA1
10
Show member pathways
11.93 XRCC1 XPC XPA TP53 RAD23B IGF1
11 11.83 TP53 IGF1 CCND1
12
Show member pathways
11.82 XPC XPA RAD23B ERCC2
13 11.72 TP53 DNMT1 CCND1
14
Show member pathways
11.69 TP53 BRCA2 BRCA1
15
Show member pathways
11.63 XRCC3 TP53 ERCC2
16 11.58 XPC XPA TP53 ERCC2
17 11.44 TP53 CCND1 BRCA1
18 11.42 XPA TP53 GSTT1 GSTM1 BRCA1
19 11.34 TP53 CCND1 BRCA1
20 11.25 XRCC1 CCND1 BRCA2
21 11.16 TP53 CCND1 BRCA1
22 11.09 XPA GSTT1 GSTM1 ERCC2
23 10.89 TP53 BRCA1

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 10.13 XRCC3 XPC XPA TP53 RAD23B NAT2
2 nucleus GO:0005634 10.07 XRCC3 XRCC1 XPC XPA TP53 RAD23B
3 nucleoplasm GO:0005654 9.4 XRCC3 XRCC1 XPC XPA TP53 RAD23B
4 lateral element GO:0000800 9.37 BRCA2 BRCA1
5 XPC complex GO:0071942 9.16 XPC RAD23B
6 replication fork GO:0005657 9.13 XRCC3 TP53 DNMT1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.98 TP53 IGF1 DNMT3B DNMT1 BRCA1
2 response to drug GO:0042493 9.91 XRCC1 XPC TP53 DNMT3B CCND1 BLMH
3 DNA recombination GO:0006310 9.81 XRCC3 BRCA2 BRCA1
4 response to organic substance GO:0010033 9.8 XRCC3 XRCC1 CCND1
5 double-strand break repair via homologous recombination GO:0000724 9.8 XRCC3 XRCC1 BRCA2 BRCA1
6 Ras protein signal transduction GO:0007265 9.77 TP53 IGF1 DNMT1
7 transcription-coupled nucleotide-excision repair GO:0006283 9.77 XRCC1 XPA ERCC2
8 DNA repair GO:0006281 9.76 XRCC3 XRCC1 XPC XPA RAD23B ERCC2
9 double-strand break repair GO:0006302 9.75 TP53 BRCA2 BRCA1
10 embryonic organ development GO:0048568 9.71 TP53 RAD23B ERCC2
11 nucleotide-excision repair, DNA damage recognition GO:0000715 9.7 XPC XPA RAD23B
12 response to X-ray GO:0010165 9.69 TP53 CCND1 BRCA2
13 nucleotide-excision repair, preincision complex assembly GO:0006294 9.67 XPC XPA RAD23B ERCC2
14 positive regulation of histone H3-K4 methylation GO:0051571 9.65 DNMT3B DNMT1 BRCA1
15 hematopoietic stem cell differentiation GO:0060218 9.64 TP53 ERCC2
16 response to auditory stimulus GO:0010996 9.63 XPC XPA
17 UV protection GO:0009650 9.63 XPA ERCC2
18 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.63 TP53 BRCA2 BRCA1
19 UV-damage excision repair GO:0070914 9.62 XPC XPA
20 global genome nucleotide-excision repair GO:0070911 9.62 XPC XPA RAD23B ERCC2
21 telomere maintenance via recombination GO:0000722 9.61 XRCC3 BRCA2
22 mitotic G1 DNA damage checkpoint GO:0031571 9.61 TP53 CCND1
23 negative regulation of histone H3-K9 methylation GO:0051573 9.58 DNMT3B DNMT1 BRCA1
24 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 9.57 IGF1 DNMT1
25 chordate embryonic development GO:0043009 9.56 BRCA2 BRCA1
26 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.56 XPC XPA RAD23B ERCC2
27 C-5 methylation of cytosine GO:0090116 9.55 DNMT3B DNMT1
28 nucleotide-excision repair GO:0006289 9.43 XPC XPA TP53 RAD23B ERCC2 BRCA2
29 cellular response to DNA damage stimulus GO:0006974 9.32 XRCC3 XRCC1 XPC XPA TP53 RAD23B

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 XRCC3 XRCC1 XPC XPA TP53 RAD23B
2 DNA binding GO:0003677 9.91 XRCC3 XPC XPA TP53 ERCC2 DNMT3B
3 enzyme binding GO:0019899 9.72 XRCC1 TP53 GSTM1 CCND1 BRCA1
4 histone deacetylase binding GO:0042826 9.61 TP53 DNMT3B CCND1
5 single-stranded DNA binding GO:0003697 9.58 XPC RAD23B BRCA2
6 DNA-methyltransferase activity GO:0009008 9.16 DNMT3B DNMT1
7 damaged DNA binding GO:0003684 9.1 XRCC1 XPC XPA RAD23B ERCC2 BRCA1
8 DNA (cytosine-5-)-methyltransferase activity GO:0003886 8.96 DNMT3B DNMT1

Sources for Mutagen Sensitivity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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