Disorder "Cancer"
Found 11 records
Disorder information
Disorder name:
Cancer
Disoder ID:
Synonyms:
malignant neoplasm,malignant tumor,primary cancer
Definition:
An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).
Modifier statisitcs
Record:
11
Gene:
10
Variant:
11
Reference:
4
Effect type:
Expressivity(11)
Modifier effect:
Risk factor(9)
,Altered susceptibility(1)
,Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| UGT1A6 | UGT1A6:c.627G>T(p.Val209Val) | Expressivity | Risk factor | From review article | Variant in UGT1A6 (V209V, rs17863783) was associated with about a fourfold increased risk in cancermore | more |
| SLC22A7 | SLC22A7:c.*1364T>C | Expressivity | Risk factor | From review article | Variants in SLC22A7 (rs4149178) and SLC22A17 (rs4982753) were also significantly associated with anthracycline-induced cardiotoxicity and successfully replicated in an independent cohortmore | more |
| SLC22A17 | SLC22A17:c.*1288G>A | Expressivity | Risk factor | From review article | Variants in SLC22A7 (rs4149178) and SLC22A17 (rs4982753) were also significantly associated with anthracycline-induced cardiotoxicity and successfully replicated in an independent cohortmore | more |
| RARG | RARG:c.1280C>T(p.Ser427Leu) | Expressivity | Risk factor | From review article | Carriers of this variant have a fivefold increased chance of developing cardiotoxicity.more | more |
| MTHFR | MTHFR:c.A1298C(p.Glu429Ala) | Expressivity | Risk factor | From review article | Variation in the MTHFR gene (including A1298C, rs1801131) reported a 7.4-fold increased risk of attention-deficit/hyperactivity disordermore | more |
| MTHFR:c.665C>T(p.Ala222Val) | Expressivity | Risk factor | From review article | MTHFR) 677C-->T polymorphism is associated with a reduced risk of some forms of cancermore | more | |
| MDM4 | MDM4:c.*32C>A | Expressivity | Altered susceptibility | OR=0.848, 95% CI: 0.765-0.941, P=0.002 | The rs4245739 polymorphism may contribute to a decreased cancer susceptibility and support the hypothesis that genetic variants in the MDM4 genes act as important modifiers of cancer risk.more | more |
| HNMT | HNMT:c.191-12449C>A | Expressivity | Risk factor | From review article | HNMT (rs17583889) conferred increased risk for cardiotoxicitymore | more |
| GSTP1 | GSTP1:p.Val114/Val114 | Expressivity | Risk factor | P<0.002 | The genetic modifier GSTP1 Val114/Val114 genotype may begin to define a high-risk genotype for cancer susceptibility in the pediatric population.more | more |
| CELF4 | CELF4:c.287-11458C>T | Expressivity | Risk factor | From review article | Variant in a noncoding region of CELF4 (rs1786814) conferred a tenfold increased risk for cardiomyopathymore | more |