Article
A role for MLH3 in hereditary nonpolyposis colorectal cancer.
Nature genetics - 1 Oct 2001
Wu Y, Berends M J, Sijmons R H, Mensink R G, Verlind E, Kooi K A, van der Sluis T, Kempinga C, van dDer Zee A G, Hollema H, Buys C H, Kleibeuker J H, Hofstra R M
Abstract excerpt
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.
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