Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing

被引：264

作者：

Thomas, Roman K.

Nickerson, Elizabeth

Simons, Jan F.

Janne, Pasi A.

Tengs, Torstein

Yuza, Yuki

Garraway, Levi A.

LaFramboise, Thomas

Lee, Jeffrey C.

Shah, Kinjal

O'Neill, Keith

Sasaki, Hidefumi

Lindeman, Neal

Wong, Kwok-Kin

Borras, Ana M.

Gutmann, Edward J.

Dragnev, Konstantin H.

DeBiasi, Ralph

Chen, Tzu-Hsiu

Glatt, Karen A.

Greulich, Heidi

Desany, Brian

Lubeski, Christine K.

Brockman, William

Alvarez, Pablo

Hutchison, Stephen K.

Leamon, J. H.

Ronan, Michael T.

Turenchalk, Gregory S.

Egholm, Michael

Sellers, William R.

Rothberg, Jonathan M.

Meyerson, Matthew

机构：

[1] Harvard Univ, Sch Med, Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA

[2] MIT, Broad Inst, Cambridge, MA 02142 USA

[3] Harvard Univ, Cambridge Ctr 7, Cambridge, MA 02142 USA

[4] Dana Farber Canc Inst, Melanoma Program Med Oncol, Boston, MA 02115 USA

[5] Nagoya City Univ, Sch Med, Dept Surg 2, Mizuho Ku, Nagoya, Aichi 4678601, Japan

[6] Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA

[7] Dana Farber Canc Inst, Translat Res Lab, Boston, MA 02115 USA

[8] Dartmouth Hitchcock Med Ctr, Dept Pathol, Norris Cotton Canc Ctr, Lebanon, NH 03756 USA

[9] Dartmouth Hitchcock Med Ctr, Dept Med, Norris Cotton Canc Ctr, Lebanon, NH 03756 USA

[10] Harvard Univ, Sch Med, Dept Pathol, Boston, MA 02115 USA

[11] Dana Farber Canc Inst, Ctr Canc Genome Discovery, Boston, MA 02115 USA

来源：

NATURE MEDICINE | 2006年 / 12卷 / 07期

关键词：

D O I：

10.1038/nm1437

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The sensitivity of conventional DNA sequencing in tumor biopsies is limited by stromal contamination and by genetic heterogeneity within the cancer. Here, we show that microreactor-based pyrosequencing can detect rare cancer-associated sequence variations by independent and parallel sampling of multiple representatives of a given DNA fragment. This technology can thereby facilitate accurate molecular diagnosis of heterogeneous cancer specimens and enable patient selection for targeted cancer therapies.

引用

页码：852 / 855

页数：4

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