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 |
|---|---|---|---|---|---|---|
| BRCA2 | BRCA2:c.6410del | 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 |
| BRCA2:c.6468_6469del(p.Ser2156fs) | 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 | |
| BRCA2:c.6486_6489del(p.Lys2162fs) | 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 | |
| BRCA2:c.6502G>T(p.Gly2168*) | 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 | |
| BRCA2:c.6531_6534del(p.Ile2177fs) | 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 | |
| BRCA2:c.6535_6536insA(p.Val2179fs) | 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 | |
| BRCA2:c.658_659del(p.Val220fs) | 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 | |
| BRCA2:c.6580dup | 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 | |
| BRCA2:c.6656C>G(p.Ser2219*) | 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 | |
| BRCA2:c.6724_6725del(p.Asp2242fs) | 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 |