ECDB-Endometrial cancer gene database

REFERENCES

Gene Name	Gene ID	Pubmed ID	Classification	Mechanism	Marker	Type	Normal Cases	Disease Cases	Age	Mean Age	Place	FIGO	Grade	Remark	Title	Journal	Volume	Year
MLH3	27030	16885347	-	Mutation	-	-	-	57	-	61	Division of Gynecologic Oncology; Washington Univesrity School of Medicine	-	-	[1] A total of 22 MLH3 variants are identified. Twelve of the 22 sequence alterations are missense changes (namely R647C; T942I; P844L; K231Q; F390I; V420I; P551S; R797H; N826D; E828D; Y720C and H823Y). There are four silent and six intronic variants. Five of the six intronic variants are SNP and one is an insertion/deletion polymorphism in a TA repeat. Of the 12 missense variants; three are somatic mutations (E828D; Y720C and H823Y). One tumor specimen had both a germ line missense variant (T942I) and loss of heterozygosity. [2] The identification of inherited missense variants; somatic missense mutations (present in 3 of 57 tumors); and LOH in the tumor from a patient with a germ line missense change suggest a role for MLH3 in endometrial tumorigenesis.	MLH3 mutation in endometrial cancer.	Cancer Research	66(15):7502-8	2006