Development of Personalized Tumor Biomarkers Using Massively Parallel Sequencing

被引：379

作者：

Leary, Rebecca J. ^{[1
,2
]}

Kinde, Isaac ^{[1
,2
]}

Diehl, Frank ^{[1
,2
]}

Schmidt, Kerstin ^{[1
,2
]}

Clouser, Chris ^{[3
]}

Duncan, Cisilya ^{[3
]}

Antipova, Alena ^{[3
]}

Lee, Clarence ^{[3
]}

McKernan, Kevin ^{[3
]}

De la Vega, Francisco M. ^{[4
]}

Kinzler, Kenneth W. ^{[1
,2
]}

Vogelstein, Bert ^{[1
,2
]}

Diaz, Luis A., Jr. ^{[1
,2
]}

Velculescu, Victor E. ^{[1
,2
]}

机构：

[1] Johns Hopkins Kimmel Canc Ctr, Ludwig Ctr Canc Genet & Therapeut, Baltimore, MD 21231 USA

[2] Johns Hopkins Kimmel Canc Ctr, Howard Hughes Med Inst, Baltimore, MD 21231 USA

[3] Life Technol, Beverly, MA 01915 USA

[4] Life Technol, Foster City, CA 94404 USA

来源：

SCIENCE TRANSLATIONAL MEDICINE | 2010年 / 2卷 / 20期

关键词：

MINIMAL RESIDUAL DISEASE; ACUTE LYMPHOBLASTIC-LEUKEMIA; COPY NUMBER VARIATION; STRUCTURAL VARIATION; COLORECTAL CANCERS; GENE FUSIONS; HUMAN BREAST; HUMAN GENOME; RESOLUTION; REARRANGEMENT;

D O I：

10.1126/scitranslmed.3000702

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Clinical management of human cancer is dependent on the accurate monitoring of residual and recurrent tumors. The evaluation of patient-specific translocations in leukemias and lymphomas has revolutionized diagnostics for these diseases. We have developed a method, called personalized analysis of rearranged ends (PARE), which can identify translocations in solid tumors. Analysis of four colorectal and two breast cancers with massively parallel sequencing revealed an average of nine rearranged sequences (range, 4 to 15) per tumor. Polymerase chain reaction with primers spanning the breakpoints was able to detect mutant DNA molecules present at levels lower than 0.001% and readily identified mutated circulating DNA in patient plasma samples. This approach provides an exquisitely sensitive and broadly applicable approach for the development of personalized biomarkers to enhance the clinical management of cancer patients.

引用

页数：7

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