Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
ENSG00000285837 c.981+59126G>A
rs1292011
rs10771399
rs865686
rs1011970
ENSG00000285837 c.981+59126G>A
rs1292011
rs10771399
rs865686
rs1011970 - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049).
- Pubmed
- 22348646
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.08
- Year of publication
- 2012
Drugs