Disorder "Endometrial Carcinoma"
Found 2 records
Disorder information
Disorder name:
Endometrial Carcinoma
Disoder ID:
Synonyms:
carcinoma of the Endometrium, endometrioid carcinoma of female Reproductive system, endometrioid carcinoma
Definition:
A carcinoma of the endometrium, the mucous lining of the uterus.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
2
Effect type:
Dominance(1)
,Expressivity(1)
Modifier effect:
Altered onset time(1)
,Heterozygote susceptibility(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| MDM2 | MDM2:n.-3306A>C | Expressivity | Altered onset time | P<0.05 | Therefore, our results confirm the impact of the MDM2 SNP309 G allele on the age of tumour onset in germline p53 mutation carriers, and suggest that this effect may be amplified by the p53 72Arg allele. Polymorphisms affecting p53 degradation therefore represent one of the rare examples of modifier genetic factors identified to date in mendelian predispositions to cancer.more | more |
| CYP1A1 | CYP1A1:C4887 | Dominance | Heterozygote susceptibility | OR=6.36, 95% CI: 1.99-26.5, P=0.0004 | A novel CYP1A1 variant could influence susceptibility to endometrial cancermore | more |
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