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 |
|---|---|---|---|---|---|---|
| PLAUR | PLAUR:n.-3818T>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 |
| PIK3CA | PIK3CA:c.-76-13274C>T | Expressivity | Altered life span | HR=1.50, 95% CI: 1.01-2.21, p=0.04 | rs1520220 in IGF1 and rs2677760 in PIK3CA were associated with worse obesity, and breast cancer disease-free survival(DFS).more | more |
| PALB2 | PALB2:c.3113G>A(p.Trp1038*) | Expressivity | Risk factor | OR=30.1, 95% CI: 7.5 to 120; P<0.0001 | The PALB2 c.3113G > A mutation appears to be associated with substantial risks of breast cancer that are of clinical relevance.more | more |
| NAT2 | NAT2:c.282C>T(p.Tyr94Tyr) | Expressivity | Risk factor | OR=1.32; 95% CI: 1.01-1.73 | The slow NAT2 acetylation capacity-associated genotypes posed a somewhat increased overall breast cancer risk (odds ratio [OR], 1.32; 95% confidence interval [CI], 1.01-1.73).more | more |
| NAT2:c.341T>C(p.Ile114Thr) | Expressivity | Risk factor | OR=1.32; 95% CI: 1.01-1.73 | The slow NAT2 acetylation capacity-associated genotypes posed a somewhat increased overall breast cancer risk (odds ratio [OR], 1.32; 95% confidence interval [CI], 1.01-1.73).more | more | |
| MRPS30 | MRPS30:n.44706498A>G | Expressivity | Risk factor | OR=1.15, 95% CI: 1.05, 1.26 | The mitochondrial ribosomal protein S30 gene (MRPS30) rs10941679 was associated with breast cancer risk only among women with more than 30 years of menstruationmore | more |
| MDM4 | MDM4:c.*32C>A | Expressivity | Risk factor | Jinan set: OR=0.55, 95% CI: 0.40-0.76, P=2.3 × 10(-4); huaian set: OR= 0.41, 95% CI: 0.25-0.67, P=3.1 × 10(-4) | The MDM4 rs4245739 AC and CC genotypes were significantly associated with decreased breast cancer riskmore | more |
| MDM2 | MDM2:n.-3306A>C | Expressivity | Risk factor | OR=3.93; 95% CI: 1.41-10.90, P=0.009 | MDM2 SNP309 acts as a modifier of mutant BRCA1/2 mutant alleles in AJ and may accelerate breast and ovarian carcinogenesis in genetically predisposed individuals.more | more |
| MAP3K1 | MAP3K1:n.56031884C>A | Expressivity | Risk factor | From review article | Genetic modifiers of breast and ovarian cancer riskmore | more |
| LSP1 | LSP1:c.*13+200T>C | Expressivity | Risk factor | From review article | Genetic modifiers of breast and ovarian cancer riskmore | more |