title: No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk.
abstract: Recently we identified a new variant, S845G, in the MLH3 gene in 7 out of 327 patients suspected of hereditary nonpolyposis colorectal cancer but not fulfilling the Amsterdam criteria and in 1 out of 188 control subjects. As this variant might play a role in causing sporadic colorectal cancer, we analyzed its prevalence in sporadic colorectal cancer patients. We analyzed a small part of exon 1 of the MLH3 gene, including the S845G variant, in germline DNA of 467 white sporadic colorectal cancer patients and 497 white controls. The S845G variant was detected in five patients and eight controls; the results thus indicate that this variant does not confer an increased colorectal cancer risk. Another variant (P844L) was clearly a polymorphism. Three other missense variants were rare and the sample size of the study was too small to conclude whether they are pathogenic. In conclusion, no association was observed between two MLH3 variants (P844L and S845G) and colorectal cancer risk.
authors.affiliation: Department of Clinical Genetics, University Hospital Groningen, The Netherlands.
authors.forename: Mirjam M
authors.initials: MM
authors.lastname: de Jong
authors.forename: Robert M W
authors.initials: RM
authors.lastname: Hofstra
authors.forename: Krista A
authors.initials: KA
authors.lastname: Kooi
authors.forename: Jantine L
authors.initials: JL
authors.lastname: Westra
authors.forename: Maran J W
authors.initials: MJ
authors.lastname: Berends
authors.forename: Ying
authors.initials: Y
authors.lastname: Wu
authors.forename: Harry
authors.initials: H
authors.lastname: Hollema
authors.forename: Tineke
authors.initials: T
authors.lastname: van der Sluis
authors.forename: Winette T A
authors.initials: WT
authors.lastname: van der Graaf
authors.forename: Elisabeth G E
authors.initials: EG
authors.lastname: de Vries
authors.forename: Michael
authors.initials: M
authors.lastname: Schaapveld
authors.forename: Rolf H
authors.initials: RH
authors.lastname: Sijmons
authors.forename: Gerard J
authors.initials: GJ
authors.lastname: te Meerman
authors.forename: Jan H
authors.initials: JH
authors.lastname: Kleibeuker
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000453:epidemiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D014644:Genetic Variation; D006801:Humans; D000070956:MutL Proteins; D009154:Mutation / Q000235:genetics*; D012307:Risk Factors
chemical_list: D002352:Carrier Proteins; C403623:MLH3 protein, human; D000070956:MutL Proteins