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 |
|---|---|---|---|---|---|---|
| LOC101928278 | LOC101928278:n.217905832A>G | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | Ten variants were found to be significantly associated with early onset cancermore | more |
| LEPR | LEPR:c.1604-622G>T | Expressivity | Altered life span | HR=0.65, 95% CI: 0.42-1.02, P=0.06 | rs1063539 in ADIPOQ, rs11585329 in LEPR, and rs2519757 in TSC1 were associated with improved obesity, and breast cancer disease-free survival(DFS)more | more |
| KL | KL:c.1054T>G(p.Phe352Val) | Expressivity | Risk factor | Gene activity study | KL-VS as a breast and ovarian cancer risk modifier among BRCA1 mutation carriersmore | more |
| KL:c.1109G>C(p.Cys370Ser) | Expressivity | Risk factor | HR=1.40, 95% CI: 1.08-1.83, P=0.01 | KL-VS as a breast and ovarian cancer risk modifier among BRCA1 mutation carriersmore | more | |
| IL2RA | IL2RA:c.-2152A>G | Expressivity | Risk factor | OR=1.49, 95% CI: 1.23-1.89 | Our findings suggest that rs7072793 C > T genetic variation in CD25 genes may be genetic modifier for developing breast cancer.more | more |
| IGF1 | IGF1:c.355-178C>G | Expressivity | Altered life span | HR=1.61, 95% CI: 1.15-2.25, P=0.01 | rs1520220 in IGF1 and rs2677760 in PIK3CA were associated with worse obesity, and breast cancer disease-free survival(DFS).more | more |
| HUS1 | HUS1:c.358-283A>C | Expressivity | Altered onset time | OR=1.87; 95% CI: 1.19, 2.92 | The presence of rs1056663 and rs2708861 HUS1 polymorphisms is associated with early age of presentation of BC in the group of non-carriers of BRCA1/2 mutations.more | more |
| HUS1:c.834G>A(p.Ala278Ala) | Expressivity | Altered onset time | OR=1.87; 95% CI: 1.19, 2.92 | The presence of rs1056663 and rs2708861 HUS1 polymorphisms is associated with early age of presentation of BC in the group of non-carriers of BRCA1/2 mutations.more | more | |
| HFE | HFE:c.187C>G(p.His63Asp) | Expressivity | Risk factor | Assessment of genotype–phenotype associations | The HFE mutations C282Y and H63D in the causation of MBC and PC, but carriers of both BRCA2 9346(-2)A-->G and an HFE mutation may be at an increased risk.more | more |
| FGFR2 | FGFR2:c.109+906T>C | Expressivity | Risk factor | From review article | Genetic modifiers of breast and ovarian cancer riskmore | more |