A role for MLH3 in hereditary nonpolyposis colorectal cancer.
We investigated a possible role of the mismatch-repair gene MLH3 in hereditary nonpolyposis colorectal cancer by scanning for mutations in 39 HNPCC families and in 288 patients suspected of having HNPCC. We identified ten different germline MLH3 variants, one frameshift and nine missense mutations, in 12 patients suspected of HNPCC. Three of the 12 also carried a mutation in MSH6.
Wu
Y
Y
Department of Medical Genetics, University of Groningen, Groningen, The Netherlands.
Berends
M J
MJ
Sijmons
R H
RH
Mensink
R G
RG
Verlind
E
E
Kooi
K A
KA
van der Sluis
T
T
Kempinga
C
C
van dDer Zee
A G
AG
Hollema
H
H
Buys
C H
CH
Kleibeuker
J H
JH
Hofstra
R M
RM
D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004247:DNA; D004260:DNA Repair / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D000070956:MutL Proteins; D009154:Mutation
D002352:Carrier Proteins; D005819:Genetic Markers; C403623:MLH3 protein, human; D004247:DNA; D000070956:MutL Proteins