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 |
|---|---|---|---|---|---|---|
| FGFR2 | FGFR2:c.109+906T>C | Expressivity | Risk factor | OR=2.09; 95% CI: 1.35, 3.20 | rs2981582 FGFR2 polymorphism and the interaction between rs1056663 and rs2708861 HUS1 polymorphisms increased the risk of cancermore | more |
| ERCC4 | ERCC4:c.2505T>C(p.Ser835Ser) | Expressivity | Risk factor | 2.6-fold risk (95% CI: 1.02-6.48) | The combined effect of ERCC2 Asp(312)Asn and ERCC4 Ser(836)Ser genotypes might be associated with breast cancer risk in Korean women. Women with both ERCC2 A allele- and ERCC4 C allele-containing genotypes showed a 2.6-fold risk (95% CI: 1.02-6.48) of breast cancer compared to women concurrently carrying the ERCC2 GG and ERCC4 TT genotypes.more | more |
| ERCC2 | ERCC2:c.934G>A(p.Asp312Asn) | Expressivity | Risk factor | 2.6-fold risk (95% CI: 1.02-6.48) | The combined effect of ERCC2 Asp(312)Asn and ERCC4 Ser(836)Ser genotypes might be associated with breast cancer risk in Korean women. Women with both ERCC2 A allele- and ERCC4 C allele-containing genotypes showed a 2.6-fold risk (95% CI: 1.02-6.48) of breast cancer compared to women concurrently carrying the ERCC2 GG and ERCC4 TT genotypes.more | more |
| EPCAM | EPCAM:c.344T>C(p.Met115Thr) | Expressivity | Altered onset time | P<0.001 | M115T polymorphism in EpCAM may be a genetic modifier for developing breast cancer.more | more |
| EGF | EGF:c.G-1380A | Penetrance | Altered incidence | P<0.001 | G-1380A variant might be a modifier on breast cancermore | more |
| CYP17A1 | CYP17A1:c.-34T>C | Expressivity | Risk factor | OR=0.44, 95% CI: 0.21; 0.93 | The BRCA1 Cys39Gly and CYP17A1 -34T>C genetic variations were associated with breast cancer risk.more | more |
| CASP8 | CASP8:c.1030G>C(p.Asp344His) | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | Ten variants were found to be significantly associated with early onset cancermore | more |
| CASP8:c.1030G>C(p.Asp344His) | Expressivity | Risk factor | Per-allele HR=0.85; 95% CI: 0.76-0.97; P(trend) = 0.011 | CASP8 D302H decreases breast and ovarian cancer risk for BRCA1 mutation carriersmore | more | |
| CASP8:c.-33678_-33673del | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | Ten variants were found to be significantly associated with early onset cancermore | more | |
| CASP8:c.1030G>C(p.Asp344His) | Expressivity | Risk factor | OR=3.41, 95% CI: 1.33-8.78, P=0.01 | The CASP8 D302H polymorphism diminishes the high risk of BC conferred by BRCA1 and BRCA2 mutations, making possible that some of the carriers could escape from suffering BC along their life span.more | more |