MCID: MTG002
MIFTS: 33

Mutagen Sensitivity malady

Rare diseases category

Aliases & Classifications for Mutagen Sensitivity

About this section

Aliases & Descriptions for Mutagen Sensitivity:

Name: Mutagen Sensitivity 45


Classifications:



Summaries for Mutagen Sensitivity

About this section
MalaCards based summary: Mutagen Sensitivity is related to ataxia-telangiectasia and breast cancer. An important gene associated with Mutagen Sensitivity is BRCA1 (Breast Cancer 1, Early Onset), and among its related pathways are Resolution of D-Loop Structures and BRCA1 Pathway. Affiliated tissues include lung, breast and testes, and related mouse phenotypes are limbs/digits/tail and pigmentation.

Related Diseases for Mutagen Sensitivity

About this section

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

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1ataxia-telangiectasia30.2BRCA1, BRCA2, TP53
2breast cancer29.5BRCA1, BRCA2, CCND1, DNMT3B, IGF1, NAT2
3lung cancer29.5CCND1, DNMT1, DNMT3B, ERCC2, GSTM1, GSTT1
4colorectal cancer28.5BRCA1, BRCA2, CCND1, DNMT1, DNMT3B, GSTM1
5melanoma10.4
6congenital pulmonary veins atresia or stenosis10.3BRCA1, BRCA2
7bronchiolitis obliterans10.3BRCA1, BRCA2
8nasopharyngitis10.3
9oral cancer10.3
10extrahepatic bile duct small cell adenocarcinoma10.3BRCA1, BRCA2
11animal phobia10.3BRCA1, BRCA2
12breast cancer, childhood10.3BRCA1, BRCA2
13brca2 hereditary breast and ovarian cancer syndrome10.3BRCA1, BRCA2
14nutritional deficiency disease10.3BRCA1, BRCA2
15oral lichen planus10.2GSTM1, TP53, XRCC1
16microcystic variant infiltrating bladder urothelial carcinoma10.2BRCA1, BRCA2
17chronic atticoantral disease10.2BRCA1, BRCA2, TP53
18pathological gambling10.2BRCA1, BRCA2, TP53
19pancreatic islet cell tumors10.2BRCA1, BRCA2, TP53
20fallopian tube adenofibroma10.2BRCA1, BRCA2, TP53
21amyloid tumor10.2BRCA1, BRCA2, TP53
22clear cell adenoma10.2IGF1, TP53
23peritoneal cystic mesothelioma10.2BRCA1, BRCA2, TP53
24fallopian tube carcinosarcoma10.2BRCA1, BRCA2, TP53
25ciliopathy10.2BRCA1, BRCA2, TP53
26ovarian clear cell adenofibroma10.2BRCA1, BRCA2, TP53
27polyvesicular vitelline pattern ovarian yolk sac tumor10.2BRCA1, BRCA2, TP53
28infancy electroclinical syndrome10.2BRCA1, BRCA2, TP53
29malignant peripheral nerve sheath tumor10.2BRCA1, BRCA2, TP53
30ovary sarcoma10.2BRCA1, BRCA2, TP53
31spondyloepimetaphyseal dysplasia, sponastrime type10.2BRCA1, BRCA2, TP53
32breast cyst10.2BRCA1, BRCA2, TP53
33malignant leptomeningeal tumor10.2CCND1, TP53
34bscl2-related neurologic disorders/seipinopathy10.2BRCA1, BRCA2
35breast sarcoma10.2CCND1, TP53
36xeroderma pigmentosum, group a10.2XPA, XPC
37frontal lobe epilepsy10.2GSTM1, GSTT1, NAT2
38ectodermal dysplasia10.1GSTM1, GSTT1, NAT2
39pyloric antrum cancer10.1GSTM1, GSTT1, TP53, XRCC1
40choroid plexus papilloma10.1BRCA1, BRCA2, TP53
41hepatocellular carcinoma10.1
42nasopharyngeal carcinoma10.1
43sporadic breast cancer10.1
44endometriosis10.1
45sarcoma10.1
46soft tissue sarcoma10.1
47ataxia10.1
48cytomegalovirus infection10.1
49non-suppurative otitis media10.1CCND1, TP53, XRCC1
50methemoglobinemia10.1BRCA1, BRCA2

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



Diseases related to mutagen sensitivity

Symptoms for Mutagen Sensitivity

About this section

Drugs & Therapeutics for Mutagen Sensitivity

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1DNA Repair, p53 and Apoptosis Phenotypes in Lung CancerRecruitingNCT00339859
2Genetic Susceptibility to Bladder CancerRecruitingNCT00848289

Search NIH Clinical Center for Mutagen Sensitivity

Genetic Tests for Mutagen Sensitivity

About this section

Anatomical Context for Mutagen Sensitivity

About this section

MalaCards organs/tissues related to Mutagen Sensitivity:

33
Lung, Breast, Testes, Skin, Colon

Animal Models for Mutagen Sensitivity or affiliated genes

About this section

MGI Mouse Phenotypes related to Mutagen Sensitivity:

38 (show all 23)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2BLMH, BRCA1, BRCA2, IGF1, TP53, XPA
2MP:00011869.0BRCA1, DNMT1, ERCC2, TP53, XPA
3MP:00053758.8BRCA1, ERCC2, IGF1, RAD23B, TP53, XPA
4MP:00028738.0BRCA1, BRCA2, CCND1, DNMT1, IGF1, RAD23B
5MP:00053807.9BRCA1, BRCA2, DNMT1, DNMT3B, RAD23B, TP53
6MP:00053907.6BRCA1, BRCA2, CCND1, DNMT3B, ERCC2, IGF1
7MP:00053797.5BRCA1, BRCA2, CCND1, ERCC2, IGF1, RAD23B
8MP:00053917.5CCND1, DNMT3B, ERCC2, RAD23B, TP53, XPA
9MP:00107716.6BLMH, BRCA1, BRCA2, CCND1, DNMT1, ERCC2
10MP:00053976.6BRCA1, BRCA2, CCND1, DNMT1, DNMT3B, ERCC2
11MP:00053866.4BLMH, BRCA1, BRCA2, CCND1, DNMT1, ERCC2
12MP:00020066.2BRCA1, BRCA2, CCND1, DNMT1, DNMT3B, ERCC2
13MP:00053875.9BLMH, BRCA1, BRCA2, CCND1, DNMT1, DNMT3B
14MP:00053765.9BLMH, BRCA1, BRCA2, CCND1, ERCC2, GSTM1
15MP:00036315.9BRCA1, BRCA2, CCND1, DNMT1, DNMT3B, ERCC2
16MP:00053845.7BRCA1, BRCA2, CCND1, DNMT1, DNMT3B, ERCC2
17MP:00107685.6BLMH, BRCA1, BRCA2, CCND1, DNMT1, DNMT3B
18MP:00053785.5BLMH, BRCA1, BRCA2, CCND1, DNMT1, DNMT3B
19MP:00053895.3BRCA1, BRCA2, CCND1, DNMT1, DNMT3B, ERCC2

Publications for Mutagen Sensitivity

About this section

Articles related to Mutagen Sensitivity:

(show top 50)    (show all 119)
idTitleAuthorsYear
1
4-Nitroquinoline-1-oxide-induced mutagen sensitivity and risk of cutaneous melanoma: a case-control analysis. (24977319)
2014
2
Mutagen sensitivity as measured by induced chromatid breakage as a marker of cancer risk. (24623229)
2014
3
Bleomycin-induced mutagen sensitivity, passive smoking, and risk of breast cancer in Chinese women: a case-control study. (23371556)
2013
4
Gamma-ray-induced mutagen sensitivity and risk of sporadic breast cancer in young women: a case-control study. (22218884)
2012
5
Evaluating the effects of genetic variants of DNA repair genes using cytogenetic mutagen sensitivity approaches. (21595606)
2011
6
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
7
Mutagen sensitivity in oral cancer patients, healthy tobacco chewers and controls. (20391973)
2010
8
Mutagen sensitivity and DNA repair of the EGFR gene in oropharyngeal cancer. (20400363)
2010
9
Mutagen sensitivity, tobacco smoking and breast cancer risk: a case-control study. (20110285)
2010
10
Chromosomal alterations and mutagen sensitivity in human mucosal cells of the oropharynx and lymphocytes caused by BPDE. (19996129)
2009
11
Haplotypes of DNMT1 and DNMT3B are associated with mutagen sensitivity induced by benzo[a]pyrene diol epoxide among smokers. (18499700)
2008
12
Mutagen sensitivity: a genetic predisposition factor for cancer. (17440053)
2007
13
Mutagen sensitivity and genetic variants in nucleotide excision repair pathway: genotype-phenotype correlation. (17932354)
2007
14
Mutagen sensitivity has high heritability: evidence from a twin study. (16778168)
2006
15
Mutagen sensitivity and neoplastic progression in patients with Barrett's esophagus: a prospective analysis. (17035402)
2006
16
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
17
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
18
Mutagen sensitivity of patients with cancer at different sites of the head and neck. (16105906)
2005
19
Differential mutagen sensitivity of peripheral blood lymphocytes from smokers and nonsmokers: effect of human cytomegalovirus infection. (15065204)
2004
20
Inter-rater agreement on chromosome 5 breakage in FISH-based mutagen sensitivity assays (MSAs). (15279836)
2004
21
Aphidicolin and bleomycin induced chromosome damage as biomarker of mutagen sensitivity: a twin study. (14757193)
2004
22
Chromosomal mutagen sensitivity associated with mutations in BRCA genes. (15162060)
2004
23
Mutagen sensitivity of human lymphoblastoid cells with a BRCA1 mutation. (12611459)
2003
24
Mutagen sensitivity as a susceptibility marker for endometriosis. (14507820)
2003
25
Construction of green fluorescent protein reporter genes for genotoxicity test (SOS/umu-test) and improvement of mutagen-sensitivity. (16233101)
2001
26
Joint effect of insulin-like growth factors and mutagen sensitivity in lung cancer risk. (10984281)
2000
27
Mutagen sensitivity in patients with familial and non-familial urothelial cell carcinoma. (11054683)
2000
28
Mutagen sensitivity as a biomarker for second primary tumors after head and neck squamous cell carcinoma. (10919742)
2000
29
Family history of cancer, mutagen sensitivity, and increased risk of head and neck cancer. (10656614)
1999
30
Genetics of smoking-related cancer and mutagen sensitivity. (10393708)
1999
31
Mutagen sensitivity to benzo(a)pyrene diol epoxide and the risk of squamous cell carcinoma of the head and neck. (9676854)
1998
32
Increased mutagen sensitivity in patients with head and neck cancer is less pronounced in patients with nasopharyngeal carcinoma. (9604986)
1998
33
A statistical analysis of the reliability and classification error in application of the mutagen sensitivity assay. (8833619)
1996
34
Mutagen sensitivity as a predisposing factor in familial oral cancer. (8797865)
1996
35
Mutagen sensitivity: enhanced risk assessment of squamous cell carcinoma. (9039218)
1996
36
Mutagen sensitivity and risk of gliomas: a case-control analysis. (8603389)
1996
37
A case-control study of wood dust exposure, mutagen sensitivity, and lung cancer risk. (8547823)
1995
38
Evidence of a chromatin basis for increased mutagen sensitivity associated with multiple primary malignancies of the head and neck. (7539412)
1995
39
Mutagen sensitivity as a biological marker of lung cancer risk in African Americans. (7537995)
1995
40
Lung cancer, smoking patterns, and mutagen sensitivity in Mexican-Americans. (8562219)
1995
41
Mutagen sensitivity and suppression of position-effect variegation result from mutations in mus209, the Drosophila gene encoding PCNA. (7907981)
1994
42
Mitotic catastrophe is the mechanism of lethality for mutations that confer mutagen sensitivity in Aspergillus nidulans. (7506362)
1994
43
Mutagen sensitivity as a marker of cancer risk. (7526974)
1994
44
Association between family history of cancer and mutagen sensitivity in upper aerodigestive tract cancer patients. (7682127)
1993
45
Increased mutagen sensitivity in human cultured fibroblasts with constitutively high micronucleus levels. (1551087)
1992
46
Mutagen sensitivity in patients with head and neck cancers: a biologic marker for risk of multiple primary malignancies. (1700135)
1990
47
Epistasis, photoreactivation and mutagen sensitivity of DNA repair mutants upr-1 and mus-26 in Neurospora crassa. (2528064)
1989
48
Mutagen sensitivity and mutability in lentil. (24247709)
1986
49
Mutagen sensitivity of wild type and recombination deficient c(3)G strains of Drosophila melanogaster. (121955)
1978
50
Plasmid modification of radiation and chemical-mutagen sensitivity in Pseudomonas aeruginosa. (188973)
1977

Variations for Mutagen Sensitivity

About this section

Expression for genes affiliated with Mutagen Sensitivity

About this section
Search GEO for disease gene expression data for Mutagen Sensitivity.

Pathways for genes affiliated with Mutagen Sensitivity

About this section

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

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7BRCA1, BRCA2, XRCC3
2
Show member pathways
9.7BRCA1, BRCA2, TP53
39.5BRCA1, CCND1, TP53
49.5BRCA1, CCND1, TP53
59.4BRCA2, CCND1, XRCC1
69.4CCND1, IGF1, TP53
79.3BRCA1, BRCA2, TP53, XPC
8
Show member pathways
9.1BRCA1, CCND1, IGF1, TP53
99.1ERCC2, GSTM1, GSTT1, XPA
109.0CCND1, DNMT1, TP53
119.0ERCC2, TP53, XPA, XPC
128.9BRCA1, BRCA2, CCND1, TP53, XRCC3
13
Show member pathways
8.8BRCA1, BRCA2, CCND1, IGF1, TP53
148.8BRCA1, BRCA2, CCND1, IGF1, TP53
15
Show member pathways
8.8ERCC2, RAD23B, XPA, XPC
16
Show member pathways
8.6ERCC2, RAD23B, XPA, XPC, XRCC1
178.0BRCA1, CCND1, DNMT1, DNMT3B, TP53
18
Show member pathways
7.6BRCA1, BRCA2, ERCC2, RAD23B, TP53, XPA
197.3BRCA1, BRCA2, CCND1, ERCC2, RAD23B, TP53
20
Show member pathways
7.0BRCA1, BRCA2, CCND1, ERCC2, IGF1, RAD23B

GO Terms for genes affiliated with Mutagen Sensitivity

About this section

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

idNameGO IDScoreTop Affiliating Genes
1XPC complexGO:007194210.5RAD23B, XPC
2replication forkGO:00056579.8DNMT1, TP53, XRCC3
3cytoplasmGO:00057375.9BLMH, BRCA1, BRCA2, CCND1, DNMT3B, ERCC2
4nucleoplasmGO:00056545.4BLMH, BRCA1, BRCA2, CCND1, DNMT1, DNMT3B
5nucleusGO:00056345.0BLMH, BRCA1, BRCA2, CCND1, DNMT1, DNMT3B

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

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1chordate embryonic developmentGO:004300910.5BRCA1, BRCA2
2negative regulation of reactive oxygen species metabolic processGO:200037810.5BRCA1, TP53
3response to auditory stimulusGO:001099610.4XPA, XPC
4DNA recombinationGO:000631010.3BRCA1, BRCA2, XRCC3
5regulation of mitotic cell cycle phase transitionGO:190199010.3ERCC2, XPC
6DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.3BRCA1, BRCA2, TP53
7chromosome breakageGO:003105210.3BRCA1, BRCA2, TP53
8double-strand break repair via synthesis-dependent strand annealingGO:004500310.1BRCA1, BRCA2, XRCC3
9intrinsic apoptotic signaling pathway in response to DNA damageGO:000863010.1BRCA1, BRCA2, XPA
10double-strand break repair via homologous recombinationGO:00007249.9BRCA1, BRCA2, XRCC1, XRCC3
11response to X-rayGO:00101659.9BRCA2, CCND1, TP53
12transcription-coupled nucleotide-excision repairGO:00062839.8ERCC2, XPA, XRCC1
13mitotic G1 DNA damage checkpointGO:00315719.7CCND1, TP53
14double-strand break repairGO:00063029.6BRCA1, BRCA2, TP53, XRCC1, XRCC3
15response to UVGO:00094119.6ERCC2, TP53, XPA
16response to ionizing radiationGO:00102129.5BRCA1, DNMT3B, XRCC3
17regulation of gene expression by genetic imprintingGO:00063499.4BRCA1, DNMT3B
18response to toxic substanceGO:00096369.3BLMH, DNMT3B, XPA
19positive regulation of transcription, DNA-templatedGO:00458939.3BRCA1, BRCA2, ERCC2, IGF1, TP53
20nucleotide-excision repair, DNA damage removalGO:00007189.3ERCC2, RAD23B, XPA, XPC
21response to organic substanceGO:00100339.2CCND1, XRCC1, XRCC3
22C-5 methylation of cytosineGO:00901169.1DNMT1, DNMT3B
23response to estradiolGO:00323559.1BRCA2, CCND1, DNMT3B
24global genome nucleotide-excision repairGO:00709119.0ERCC2, RAD23B, XPA, XPC, XRCC1
25multicellular organism growthGO:00352649.0BRCA2, ERCC2, IGF1, TP53, XPA
26positive regulation of histone H3-K4 methylationGO:00515719.0BRCA1, DNMT1, DNMT3B
27negative regulation of histone H3-K9 methylationGO:00515738.9BRCA1, DNMT1, DNMT3B
28positive regulation of gene expressionGO:00106288.8BRCA1, DNMT1, DNMT3B, TP53
29negative regulation of gene expression, epigeneticGO:00458148.7DNMT1, DNMT3B, ERCC2
30nucleotide-excision repairGO:00062898.5BRCA2, ERCC2, RAD23B, TP53, XPA, XPC
31regulation of gene expression, epigeneticGO:00400298.4DNMT1, DNMT3B, ERCC2
32cellular response to DNA damage stimulusGO:00069748.2BRCA1, BRCA2, CCND1, RAD23B, TP53, XPC
33response to drugGO:00424938.2BLMH, CCND1, DNMT3B, TP53, XPC, XRCC1
34DNA repairGO:00062817.9BRCA1, BRCA2, ERCC2, RAD23B, TP53, XPA

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

idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA bindingGO:00036979.7BRCA2, RAD23B, XPC, XRCC3
2DNA (cytosine-5-)-methyltransferase activityGO:00038869.4DNMT1, DNMT3B
3DNA-methyltransferase activityGO:00090089.4DNMT1, DNMT3B
4enzyme bindingGO:00198999.4BRCA1, CCND1, GSTM1, TP53, XRCC1
5damaged DNA bindingGO:00036849.1BRCA1, RAD23B, TP53, XPA, XPC, XRCC1
6protein bindingGO:00055154.3BLMH, BRCA1, BRCA2, CCND1, DNMT1, DNMT3B

Sources for Mutagen Sensitivity

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet