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 |
|---|---|---|---|---|---|---|
| XRCC1 | XRCC1:c.839G>A(p.Arg280His) | Expressivity | Risk factor | HR=22.3, 95% CI: 14.3-34, P<0.001 | An association was observed between p.Arg280His-rs25489 and breast cancer risk for BRCA2 mutation carriers, with rare homozygotes at increased risk relative to common homozygotesmore | more |
| TSC1 | TSC1:c.2208+171A>G | Expressivity | Altered life span | HR=0.11, 95% CI: 0.03-0.47, P=0.003 | rs1063539 in ADIPOQ, rs11585329 in LEPR, and rs2519757 in TSC1 were associated with improved obesity, and breast cancer disease-free survival(DFS)more | more |
| TP53BP1 | TP53BP1:c.T-885G | Expressivity | Risk factor | OR=2.36, 95% CI: 1.16-4.83 | The P53BP1 variant genotypes (alleles) of T-885G and Gln1136Lys were associated with a significantly increased risk of breast cancermore | more |
| TP53BP1:p.Gln1136Lys | Expressivity | Risk factor | OR=2.24, 95% CI: 1.15-4.37 | The P53BP1 variant genotypes (alleles) of T-885G and Gln1136Lys were associated with a significantly increased risk of breast cancermore | more | |
| TP53 | TP53:rs1042522 | Expressivity | Risk factor | Assessment of genotype–phenotype associations | Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriersmore | more |
| TP53:rs1042522 | Expressivity | Risk factor | OR=2.82, 95% CI: 1.15-6.94 | The p53 Arg72Pro polymorphism may serve as a risk modifiermore | more | |
| TAGLN | TAGLN:c.-197C>T | Expressivity | Risk factor | From review article | Variants in PROX1 (rs4342822) and TAGLN (rs74949440) were associated with a twofold increased risk for breast cancermore | more |
| SMAD3 | SMAD3:c.*9427G>A | Expressivity | Risk factor | OR=1.25, 95% CI: 1.07 to 1.45, P(trend) = 0.004 | The minor alleles of two SNPs (rs7166081 and rs3825977) were each associated with increased breast cancer risk for BRCA2 mutation carriersmore | more |
| SMAD3:c.1154+1401C>T | Expressivity | Risk factor | OR=1.20, 95% CI: 1.03 to 1.40, P(trend) = 0.018 | The minor alleles of two SNPs (rs7166081 and rs3825977) were each associated with increased breast cancer risk for BRCA2 mutation carriersmore | more | |
| SLC4A7 | SLC4A7:c.*2242G>A | Expressivity | Risk factor | From review article | Genetic modifiers of breast and ovarian cancer riskmore | more |