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 |
|---|---|---|---|---|---|---|
| BRCA1 | BRCA1:c.962G>A(p.Trp321*) | Expressivity | Risk factor | Frequently observed mutations | Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.more | more |
| BRCA1:c.981_982del(p.Cys328fs) | Expressivity | Risk factor | Frequently observed mutations | Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.more | more | |
| BRCA1:p.Asp693Asn | Penetrance | Altered incidence | From review article | Alterations of the BRCA1/2 genes that lead to subtle changes in function, could act as variants with low-penetrance, or as enhancers of risk in combination with clearly deleterious mutations.more | more | |
| BRCA1:p.Gln356Arg | Expressivity | Risk factor | From review article | Mutations in the BRCA1 and BRCA2 genes strongly predispose heterozygous carriers to breast and ovarian cancermore | more | |
| BRCA1:p.Glu1038Gly | Expressivity | Risk factor | From review article | Studies indicate that mutations in BRCA1/2 is influenced by several hormonal and environmental factors known to modulate BC risk in the general populationmore | more | |
| BRCA1:rs10046 | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | Ten variants were found to be significantly associated with early onset cancermore | more | |
| BRCA1:rs9397435 | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | Ten variants were found to be significantly associated with early onset cancermore | more | |
| BCL2 | BCL2:c.-938C>A | Expressivity | Altered susceptibility | P=0.014 | BCL-2 (-938C > A) polymorphism is associated with breast cancer susceptibilitymore | more |
| APEX1 | APEX1:rs3136820 | Expressivity | Risk factor | P<0.05 | APE1 Asp148Glu(rs3136820) as a modifier of the background levels of abasic sites in human leukocytes derived from breast cancer patients and controlsmore | more |
| ADIPOQ | ADIPOQ:c.*2899G>C | Expressivity | Altered life span | HR=0.63, 95% CI: 0.20-2.01, P=0.44 | rs1063539 in ADIPOQ, rs11585329 in LEPR, and rs2519757 in TSC1 were associated with improved obesity, and breast cancer disease-free survival(DFS)more | more |