Disorder "Hereditary Breast Cancer"
Found 4 records
Disorder information
Disorder name:
Hereditary Breast Cancer
Disoder ID:
OMIM entry:
Definition:
A thoracic cancer that originates in the mammary gland.
Modifier statisitcs
Record:
4
Gene:
4
Variant:
4
Reference:
1
Effect type:
Expressivity(2)
,Penetrance(2)
Modifier effect:
Risk factor(2)
,Altered incidence(1)
,Prevention of disease(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| XRCC3 | XRCC3:c.722C>T(p.Thr241Met) | Expressivity | Risk factor | OR=2.21, 95% CI: 1.42-3.44; P<0.001 | XRCC3 241Met genotypes without FH have an increased susceptibility of breast cancermore | more |
| XRCC1 | XRCC1:c.1196A>G(p.Gln399Arg) | Penetrance | Prevention of disease | OR=0.54, 95% CI: 0.35-0.84; P=0.006 | XRCC1 399Gln genotypes and without family history of breast cancer have a protective effect concerning this diseasemore | more |
| RAD51 | RAD51:c.135G>C | Expressivity | Risk factor | OR=2.17, 95% CI: 1.19-3.98; P=0.012 | Associated with the risk of cancermore | more |
| ERCC2 | ERCC2:c.2251A>C(p.Lys751Gln) | Penetrance | Altered incidence | OR=1.31, 95% CI: 0.80–2.15; P=0.278 | XRCC1 399Gln genotypes and without family history of breast cancer have a protective effect concerning this diseasemore | more |
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