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 |
|---|---|---|---|---|---|---|
| BRCA2 | BRCA2:rs895819 | Expressivity | Risk factor | P=0.007 | Heterozygotes of the rs895819 SNP had an 50% reduced risk for developing breast/ovarian cancermore | more |
| BRCA1 | BRCA1:c.181T>G(p.Cys61Gly) | Expressivity | Risk factor | CT (OR=2.03; 95% CI: 1.17-3.59) and combined CT + TT (OR=2.12; 95% CI: 1.23-3.70) | Multivariable penalised logistic regression revealed CT (OR(adj), 2.03; 95% CI, 1.17-3.59) and combined CT + TT (OR(adj), 2.12; 95% CI, 1.23-3.70) genotypes as significant modifiers of breast cancer risk.more | more |
| BRCA1:c.1082_1092del(p.Ser361fs) | 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.115T>G(p.Cys39Gly) | Expressivity | Risk factor | OR=12.2, 95% CI: 1.53; 98.1 | The BRCA1 Cys39Gly and CYP17A1 -34T>C genetic variations were associated with breast cancer risk.more | more | |
| BRCA1:c.1175_1214del(p.Leu392fs) | 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.135-_441+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.1374del(p.Asp458fs) | 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.1380dup | 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.1504_1508del(p.Leu502fs) | 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.1687C>T(p.Gln563*) | 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 |