Disorder "Ovarian Cancer"
Found 265 records
Disorder information
Disorder name:
Ovarian Cancer
Disoder ID:
OMIM entry:
Synonyms:
malignant tumour of ovary, tumor of the Ovary, ovarian neoplasm, primary ovarian cancer, malignant Ovarian tumor, ovary neoplasm
Definition:
A tumor (abnormal growth of tissue) of the ovary.
Modifier statisitcs
Record:
265
Gene:
16
Variant:
252
Reference:
12
Effect type:
Expressivity(265)
Modifier effect:
Risk factor(252)
,Altered onset time(10)
,Expressivity(2)
,Altered susceptibility(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| BRCA1 | BRCA1:c.962G>A(p.Trp321*) | Expressivity | Risk factor | Frequently observed mutations | Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.more | more |
| BRCA1:c.981_982del(p.Cys328fs) | Expressivity | Risk factor | Frequently observed mutations | Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.more | more | |
| BRCA1:rs10046 | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | Ten variants were found to be significantly associated with early onset cancermore | more | |
| BRCA1:rs9397435 | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | Ten variants were found to be significantly associated with early onset cancermore | more | |
| BAX | BAX:c.-248A>G | Expressivity | Risk factor | OR=4.1, 95 % CI: 1.23-13.97 | That polymorphism of BAX and TP53 genes may be potential genetic modifiers for developing ovarian cancer.more | more |