Annotation Detail

Information
Associated Genes
MLH3
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
Malignant neoplasm of breast
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
0.00290991572276264
Year of publication
2009
Drugs