No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk.
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.
de Jong
Mirjam M
MM
Department of Clinical Genetics, University Hospital Groningen, The Netherlands.
Hofstra
Robert M W
RM
Kooi
Krista A
KA
Westra
Jantine L
JL
Berends
Maran J W
MJ
Wu
Ying
Y
Hollema
Harry
H
van der Sluis
Tineke
T
van der Graaf
Winette T A
WT
de Vries
Elisabeth G E
EG
Schaapveld
Michael
M
Sijmons
Rolf H
RH
te Meerman
Gerard J
GJ
Kleibeuker
Jan H
JH
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
D002352:Carrier Proteins; C403623:MLH3 protein, human; D000070956:MutL Proteins