Annotation Detail
Information
- Associated Genes
- MSH3
- Associated Variants
-
MLH3 p.Pro844Leu (p.P844L)
(
ENST00000380968.6,
ENST00000355774.7,
ENST00000556257.5 )
MSH4 p.Ala97Thr (p.A97T) ( ENST00000263187.4 )
MSH6 p.Gly39Glu (p.G39E) ( ENST00000540021.6, ENST00000234420.11, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
MSH6 p.Gly39Ala (p.G39A) ( ENST00000234420.11, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
MSH3 p.Ala1045Thr (p.A1045T) ( ENST00000265081.7, ENST00000658259.1, ENST00000667069.1 )
MLH3 p.Pro844Leu (p.P844L) ( ENST00000355774.7, ENST00000380968.6, ENST00000556257.5 )
MSH4 p.Ala97Thr (p.A97T) ( ENST00000263187.4 )
MSH6 p.Gly39Glu (p.G39E) ( ENST00000234420.11, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
MSH6 p.Gly39Ala (p.G39A) ( ENST00000234420.11, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
MSH3 p.Ala1045Thr (p.A1045T) ( ENST00000265081.7, ENST00000658259.1, ENST00000667069.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer.
- Pubmed
- 19781088
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00760037241824849
- Year of publication
- 2009
Drugs