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 |
|---|---|---|---|---|---|---|
| RXRA | RXRA:c.28+11350C>T | Expressivity | Risk factor | P<0.001 | SNPs in the RXRA and PLAUR genes in the vitamin D pathway may contribute to breast cancer DFSmore | more |
| RXRA:c.28+11511A>G | Expressivity | Risk factor | P<0.001 | SNPs in the RXRA and PLAUR genes in the vitamin D pathway may contribute to breast cancer DFSmore | more | |
| RXRA:c.28+24878C>T | Expressivity | Risk factor | P<0.001 | SNPs in the RXRA and PLAUR genes in the vitamin D pathway may contribute to breast cancer DFSmore | more | |
| RXRA:c.28+29661T>C | Expressivity | Risk factor | P<0.001 | SNPs in the RXRA and PLAUR genes in the vitamin D pathway may contribute to breast cancer DFSmore | more | |
| RRP1B | RRP1B:c.1307T>C(p.Leu436Pro) | Expressivity | Risk factor | OR=1.75; 95% CI:1.15-2.67 | Presence of Rrp1b1307TT genotype and T allele confer strong risk for breast cancer development and progression.more | more |
| RNASEL | RNASEL:c.793G>T(p.Glu265*) | Expressivity | Altered onset time | Pedigree analysis | That RNASEL:p.Glu265* may be a genetic modifier of risk for early-onset breast cancer predisposition in carriers of high-risk mutations.more | more |
| RAD51 | RAD51:c.135G>C | Expressivity | Risk factor | OR=0.52; 95% CI: 0.2-1.33 | These findings suggest that the effect of the RAD51 C allele is an important risk modifier for malignancies occurring on a background of BRCA1 mutations.more | more |
| RAD51:c.135G>C | Expressivity | Risk factor | (adjusted odds ratio, 3.2; 95% confidence limit, 1.4-40) | We have identified a RAD51 5' untranslated region SNP that may be associated with an increased risk of breast cancer and a lower risk of ovarian cancer among BRCA2 mutation carriersmore | more | |
| RAD51:c.135G>C | Expressivity | Risk factor | OR=0.23; 95% CI: 0.07-0.62; P=0.0015 | RAD51 is a genetic modifier of breast cancer risk in BRCA1 carriers in the Polish population.more | more | |
| PROX1 | PROX1:n.506-18260C>A | Expressivity | Risk factor | From review article | Variants in PROX1 (rs4342822) and TAGLN (rs74949440) were associated with a twofold increased risk for breast cancermore | more |