Disorder "Breast Cancer"
Found 310 records
Disorder information
Disorder name:
Breast Cancer
Disoder ID:
OMIM entry:
Synonyms:
breast tumor,malignant neoplasm of breast,malignant tumor of the breast,mammary cancer,mammary tumor,primary breast cancer,mammary neoplasm
Definition:
Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.
Modifier statisitcs
Record:
310
Gene:
42
Variant:
292
Reference:
36
Effect type:
Expressivity(308)
,Penetrance(2)
Modifier effect:
Risk factor(288)
,Altered onset time(14)
,Altered life span(5)
,Altered incidence(2)
,Altered susceptibility(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| BRCA1 | BRCA1:c.5123C>A(p.Ala604Val) | 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.5177_5180del(p.Arg622fs) | 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.5212G>A(p.Gly634*) | 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.5213G>A(p.Gly634Glu) | 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.5251C>T(p.Arg647Gly) | 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.5266dup | 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.5277+1G>A | 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.5278-_5406+del | 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.5278-_5592+del | 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.5324T>G(p.Met671Arg) | 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 |