A role for MLH3 in hereditary nonpolyposis colorectal cancer

被引：125

作者：

Wu, Y

Berends, MJW

Sijmons, RH

Mensink, RGJ

Verlind, E

Kooi, KA

van der Sluis, T

Kempinga, C

van der Zee, AGJ

Hollema, H

Buys, CHCM

Kleibeuker, JH

Hofstra, RMW ^{[1
]}

机构：

[1] Univ Groningen, Dept Med Genet, Groningen, Netherlands

[2] Univ Groningen, Dept Gastroenterol, Groningen, Netherlands

[3] Univ Groningen, Dept Pathol, Groningen, Netherlands

[4] Univ Groningen, Dept Gynecol, Groningen, Netherlands

来源：

NATURE GENETICS | 2001年 / 29卷 / 02期

关键词：

D O I：

10.1038/ng1001-137

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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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页码：137 / 138

页数：2

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