Determination of HER2 Amplification Status on Tumour DNA by Digital PCR

被引：29

作者：

Garcia-Murillas, Isaac ^{[1
]}

Lambros, Maryou ^{[1
]}

Turner, Nicholas C. ^{[1
,2
]}

机构：

[1] Inst Canc Res, Breakthrough Breast Canc Res Ctr, London SW3 6JB, England

[2] Royal Marsden Hosp, Breast Unit, London SW3 6JJ, England

来源：

PLOS ONE | 2013年 / 8卷 / 12期

关键词：

POLYMERASE CHAIN-REACTION; BREAST-CANCER; IN-SITU; HYBRIDIZATION; RECEPTOR;

D O I：

10.1371/journal.pone.0083409

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：

Determination of the presence of HER2 amplification by quantitative PCR has been challenging, in part due to chromosomal instability and identification of a robust a reference region. We assessed the potential of digital PCR for highly accurate assessment of DNA concentration with EFTUD2 as chromosome 17 reference probe. We assessed a HER2: EFTDU2 ratio by digital PCR assay in the microdissected DNA from 18 HER2 amplified and 58 HER2 non-amplified cancers. The HER2: EFTUD2 ratio had high concordance with conventionally defined HER2 status with a sensitivity of 100% (18/18) and a specificity of 98% (57/58). The HER2: EFTUD2 digital PCR assay has potential to accurately assess HER2 amplification status.

引用

页数：4

共 19 条

[1] Human Epidermal Growth Factor Receptor 2 Assessment in a Case-Control Study: Comparison of Fluorescence In Situ Hybridization and Quantitative Reverse Transcription Polymerase Chain Reaction Performed by Central Laboratories [J].

Baehner, Frederick L. ;

Achacoso, Ninah ;

Maddala, Tara ;

Shak, Steve ;

Quesenberry, Charles P., Jr. ;

Goldstein, Lynn C. ;

Gown, Allen M. ;

Habel, Laurel A. .

JOURNAL OF CLINICAL ONCOLOGY, 2010, 28 (28) :4300-4306

[2]

Buerger H, 1999, J PATHOL, V187, P396, DOI 10.1002/(SICI)1096-9896(199903)187:4<396::AID-PATH286>3.0.CO

[3]

2-L

[4] Genetic characterisation of invasive breast cancer:: a comparison of CGH and PCR based multiplex microsatellite analysis [J].

Buerger, H ;

Schmidt, H ;

Beckmann, A ;

Zänker, KS ;

Boecker, W ;

Brandt, B .

JOURNAL OF CLINICAL PATHOLOGY, 2001, 54 (11) :836-840

[5] The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups [J].

Curtis, Christina ;

Shah, Sohrab P. ;

Chin, Suet-Feung ;

Turashvili, Gulisa ;

Rueda, Oscar M. ;

Dunning, Mark J. ;

Speed, Doug ;

Lynch, Andy G. ;

Samarajiwa, Shamith ;

Yuan, Yinyin ;

Graef, Stefan ;

Ha, Gavin ;

Haffari, Gholamreza ;

Bashashati, Ali ;

Russell, Roslin ;

McKinney, Steven ;

Langerod, Anita ;

Green, Andrew ;

Provenzano, Elena ;

Wishart, Gordon ;

Pinder, Sarah ;

Watson, Peter ;

Markowetz, Florian ;

Murphy, Leigh ;

Ellis, Ian ;

Purushotham, Arnie ;

Borresen-Dale, Anne-Lise ;

Brenton, James D. ;

Tavare, Simon ;

Caldas, Carlos ;

Aparicio, Samuel .

NATURE, 2012, 486 (7403) :346-352

[6] High False- Negative Rate of HER2 Quantitative Reverse Transcription Polymerase Chain Reaction of the Oncotype DX Test: An Independent Quality Assurance Study [J].

Dabbs, David J. ;

Klein, Molly E. ;

Mohsin, Syed K. ;

Tubbs, Raymond R. ;

Shuai, Yongli ;

Bhargava, Rohit .

JOURNAL OF CLINICAL ONCOLOGY, 2011, 29 (32) :4279-4285

[7] Mathematical Analysis of Copy Number Variation in a DNA Sample Using Digital PCR on a Nanofluidic Device [J].

Dube, Simant ;

Qin, Jian ;

Ramakrishnan, Ramesh .

PLOS ONE, 2008, 3 (08)

[8] Genomics-Driven Oncology: Framework for an Emerging Paradigm [J].

Garraway, Levi A. .

JOURNAL OF CLINICAL ONCOLOGY, 2013, 31 (15) :1806-1814

[9] Noninvasive Detection of HER2 Amplification with Plasma DNA Digital PCR [J].

Gevensleben, Heidrun ;

Garcia-Murillas, Isaac ;

Graeser, Monika K. ;

Schiavon, Gaia ;

Osin, Peter ;

Parton, Marina ;

Smith, Ian E. ;

Ashworth, Alan ;

Turner, Nicholas C. .

CLINICAL CANCER RESEARCH, 2013, 19 (12) :3276-3284

[10] Droplet Digital™ PCR quantitation of HER2 expression in FFPE breast cancer samples [J].

Heredia, Nicholas J. ;

Belgrader, Phillip ;

Wang, Shenglong ;

Koehler, Ryan ;

Regan, Jack ;

Cosman, Angela M. ;

Saxonov, Serge ;

Hindson, Benjamin ;

Tanner, Stephanie C. ;

Brown, Alexandra S. ;

Karlin-Neumann, George .

METHODS, 2013, 59 (01) :S20-S23

← 1 2 →