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.5503C>T(p.Arg731*) | 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.66dup | 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.68_69del(p.Glu23fs) | 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.70_80del | 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.713T>G(p.Leu238Trp) | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | Ten variants were found to be significantly associated with early onset cancermore | more | |
| BRCA1:c.815_824del | 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.815_824dup | 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.824_825ins10 | 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.837G>A(p.Lys279Lys) | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | Ten variants were found to be significantly associated with early onset cancermore | more | |
| BRCA1:c.922_924delinsT | 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 |