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 |
|---|---|---|---|---|---|---|
| KL | KL:c.1054T>G(p.Phe352Val) | Expressivity | Expressivity | Gene activity study | KL-VS as a breast and ovarian cancer risk modifier among BRCA1 mutation carriersmore | more |
| KL:c.1109G>C(p.Cys370Ser) | Expressivity | Expressivity | HR=1.40, 95% CI: 1.08-1.83, P=0.01 | KL-VS as a breast and ovarian cancer risk modifier among BRCA1 mutation carriersmore | more | |
| FGFR2 | FGFR2:c.109+906T>C | Expressivity | Risk factor | From review article | Genetic modifiers of breast and ovarian cancer riskmore | more |
| CASP8 | CASP8:c.1030G>C(p.Asp344His) | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | Ten variants were found to be significantly associated with early onset cancermore | more |
| CASP8:c.1030G>C(p.Asp344His) | Expressivity | Risk factor | Per-allele HR=0.69; 95% CI: 0.53-0.89; P(trend) = 0.004 | CASP8 D302H decreases breast and ovarian cancer risk for BRCA1 mutation carriersmore | more | |
| CASP8:c.-33678_-33673del | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | Ten variants were found to be significantly associated with early onset cancermore | more | |
| CASC16 | CASC16:c.-32949T>C | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | Ten variants were found to be significantly associated with early onset cancermore | more |
| CASC16:c.-32949T>C | Expressivity | Risk factor | From review article | Genetic modifiers of breast and ovarian cancer riskmore | more | |
| BRCA2 | BRCA2:c.*203T>C | Expressivity | Risk factor | P=0.005 | Heterozygote SNP carriers of rs11169571 had an approximately 2 fold increased risk for developing breast/ovarian cancer, whereas heterozygotes of the rs895819 SNP had an approximately 50% reduced risk for developing breast/ovarian cancermore | more |
| BRCA2:c.1138del(p.Ser380fs) | 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 |