Disorder "Sporadic Breast Cancer"
Found 5 records
Disorder information
Disorder name:
Sporadic Breast Cancer
Disoder ID:
Definition:
A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.?
Modifier statisitcs
Record:
5
Gene:
4
Variant:
5
Reference:
3
Effect type:
Expressivity(5)
Modifier effect:
Altered severity(4)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SIPA1 | SIPA1:c.545C>T(p.Ser182Phe) | Expressivity | Risk factor | P<0.05 | rs3741378 as a novel potential sporadic breast cancer predisposition SNP.more | more |
| MTHFR | MTHFR:c.A1298C(p.Glu429Ala) | Expressivity | Altered severity | OR=0.244; 95% CI: 0.077-0.771 | The MTHFR C677T and A1298C polymorphisms do not alter the risk of BC, but are associated with the clinical severity of BC.more | more |
| MTHFR:c.665C>T(p.Ala222Val) | Expressivity | Altered severity | OR=5.311; 95% CI:1.124-25.09 | The MTHFR C677T and A1298C polymorphisms do not alter the risk of BC, but are associated with the clinical severity of BC.more | more | |
| ESR2 | ESR2:c.*39G>A | Expressivity | Altered severity | OR=4.383; 95% CI: 1.606-11.96 | The rs2228480 and rs4986938 variants did not alter sporadic BC risk, but they did modulate the BC severity.more | more |
| ESR1 | ESR1:c.1788G>A(p.Thr596Thr) | Expressivity | Altered severity | OR=2.13; 95% CI: 1.189-3.816 | The rs2228480 and rs4986938 variants did not alter sporadic BC risk, but they did modulate the BC severity.more | more |
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