Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer

被引：211

作者：

Pritchard, Colin C. ^{[1
]}

Morrissey, Colm ^{[2
]}

Kumar, Akash ^{[3
]}

Zhang, Xiaotun ^{[2
]}

Smith, Christina ^{[1
]}

Coleman, Ilsa ^{[4
]}

Salipante, Stephen J. ^{[1
,3
]}

Milbank, Jennifer ^{[3
]}

Yu, Ming ^{[5
]}

Grady, William M. ^{[5
]}

Tait, Jonathan F. ^{[1
]}

Corey, Eva ^{[2
]}

Vessella, Robert L. ^{[2
]}

Walsh, Tom ^{[6
]}

Shendure, Jay ^{[3
]}

Nelson, Peter S. ^{[4
]}

机构：

[1] Univ Washington, Dept Lab Med, Seattle, WA 98195 USA

[2] Univ Washington, Dept Urol, Seattle, WA 98195 USA

[3] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

[4] Fred Hutchinson Canc Res Ctr, Div Human Biol, Seattle, WA 98109 USA

[5] Fred Hutchinson Canc Res Ctr, Div Clin Res, Seattle, WA 98109 USA

[6] Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

来源：

NATURE COMMUNICATIONS | 2014年 / 5卷

关键词：

MISMATCH REPAIR; INSTABILITY; EXPRESSION; SPECTRUM; CAPTURE; COLON; MLH1; DNA;

D O I：

10.1038/ncomms5988

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

A hypermutated subtype of advanced prostate cancer was recently described, but prevalence and mechanisms have not been well-characterized. Here we find that 12% (7 of 60) of advanced prostate cancers are hypermutated, and that all hypermutated cancers have mismatch repair gene mutations and microsatellite instability (MSI). Mutations are frequently complex MSH2 or MSH6 structural rearrangements rather than MLH1 epigenetic silencing. Our findings identify parallels and differences in the mechanisms of hypermutation in prostate cancer compared with other MSI-associated cancers.

引用

页数：6

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