RAS testing in metastatic colorectal cancer: advances in Europe

作者: J Han JM Van Krieken , Etienne Rouleau , Marjolijn J. L. Ligtenberg , Nicola Normanno , Scott D. Patterson

DOI: 10.1007/S00428-015-1876-7

关键词:

摘要: Personalized medicine shows promise for maximizing efficacy and minimizing toxicity of anti-cancer treatment. KRAS exon 2 mutations are predictive resistance to epidermal growth factor receptor-directed monoclonal antibodies in patients with metastatic colorectal cancer. Recent studies have shown that broader RAS testing (KRAS NRAS) is needed select While Sanger sequencing still used, approaches based on various methodologies available. Few CE-approved kits, however, detect the full spectrum mutations. More recently, "next-generation" has been developed research use, including parallel semiconductor reversible termination. These techniques high technical sensitivities detecting mutations, although ideal threshold currently unknown. Finally, liquid biopsy potential become an additional tool assess tumor-derived DNA. For accurate timely testing, appropriate sampling prompt delivery material critical. Processes ensure efficient turnaround from sample request evaluation must be implemented so receive most Given variety methodologies, external quality assurance programs important a standard testing. Here, we review practical aspects pathologists working cancer tumor samples. The extension markers new paradigm biomarker

参考文章(92)
J. B. Hiatt, C. C. Pritchard, S. J. Salipante, B. J. O'Roak, J. Shendure, Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Research. ,vol. 23, pp. 843- 854 ,(2013) , 10.1101/GR.147686.112
Bert Van der Zwaag, Jan D. H. Jongbloed, Maartje J. Vogel, Hennie T. Brüggenwirth, Ronald H. Lekanne Deprez, Olaf Mook, Claudia A. L. Ruivenkamp, Marjon A. van Slegtenhorst, Arthur van den Wijngaard, Quinten Waisfisz, Marcel R. Nelen, Nienke van der Stoep, Marjan M. Weiss, Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories. Human Mutation. ,vol. 34, pp. 1313- 1321 ,(2013) , 10.1002/HUMU.22368
Bastiaan BJ Tops, Nicola Normanno, Henriette Kurth, Eliana Amato, Andrea Mafficini, Nora Rieber, Delphine Le Corre, Anna Maria Rachiglio, Anne Reiman, Orla Sheils, Christoph Noppen, Ludovic Lacroix, Ian A Cree, Aldo Scarpa, Marjolijn JL Ligtenberg, Pierre Laurent-Puig, Development of a semi-conductor sequencing-based panel for genotyping of colon and lung cancer by the Onconetwork consortium BMC Cancer. ,vol. 15, pp. 26- 26 ,(2015) , 10.1186/S12885-015-1015-5
Volker Heinemann, Ludwig Fischer von Weikersthal, Thomas Decker, Alexander Kiani, Ursula Vehling-Kaiser, Salah-Eddin Al-Batran, Tobias Heintges, Christian Lerchenmüller, Christoph Kahl, Gernot Seipelt, Frank Kullmann, Martina Stauch, Werner Scheithauer, Jörg Hielscher, Michael Scholz, Sebastian Müller, Hartmut Link, Norbert Niederle, Andreas Rost, Heinz-Gert Höffkes, Markus Moehler, Reinhard U Lindig, Dominik P Modest, Lisa Rossius, Thomas Kirchner, Andreas Jung, Sebastian Stintzing, FOLFIRI plus cetuximab versus FOLFIRI plus bevacizumab as first-line treatment for patients with metastatic colorectal cancer (FIRE-3): a randomised, open-label, phase 3 trial Lancet Oncology. ,vol. 15, pp. 1065- 1075 ,(2014) , 10.1016/S1470-2045(14)70330-4
David R Bentley, Shankar Balasubramanian, Harold P Swerdlow, Geoffrey P Smith, John Milton, Clive G Brown, Kevin P Hall, Dirk J Evers, Colin L Barnes, Helen R Bignell, Jonathan M Boutell, Jason Bryant, Richard J Carter, R Keira Cheetham, Anthony J Cox, Darren J Ellis, Michael R Flatbush, Niall A Gormley, Sean J Humphray, Leslie J Irving, Mirian S Karbelashvili, Scott M Kirk, Heng Li, Xiaohai Liu, Klaus S Maisinger, Lisa J Murray, Bojan Obradovic, Tobias Ost, Michael L Parkinson, Mark R Pratt, Isabelle MJ Rasolonjatovo, Mark T Reed, Roberto Rigatti, Chiara Rodighiero, Mark T Ross, Andrea Sabot, Subramanian V Sankar, Aylwyn Scally, Gary P Schroth, Mark E Smith, Vincent P Smith, Anastassia Spiridou, Peta E Torrance, Svilen S Tzonev, Eric H Vermaas, Klaudia Walter, Xiaolin Wu, Lu Zhang, Mohammed D Alam, Carole Anastasi, Ify C Aniebo, David MD Bailey, Iain R Bancarz, Saibal Banerjee, Selena G Barbour, Primo A Baybayan, Vincent A Benoit, Kevin F Benson, Claire Bevis, Phillip J Black, Asha Boodhun, Joe S Brennan, John A Bridgham, Rob C Brown, Andrew A Brown, Dale H Buermann, Abass A Bundu, James C Burrows, Nigel P Carter, Nestor Castillo, Maria Chiara E. Catenazzi, Simon Chang, R Neil Cooley, Natasha R Crake, Olubunmi O Dada, Konstantinos D Diakoumakos, Belen Dominguez-Fernandez, David J Earnshaw, Ugonna C Egbujor, David W Elmore, Sergey S Etchin, Mark R Ewan, Milan Fedurco, Louise J Fraser, Karin V Fuentes Fajardo, W Scott Furey, David George, Kimberley J Gietzen, Colin P Goddard, George S Golda, Philip A Granieri, David E Green, David L Gustafson, Nancy F Hansen, Kevin Harnish, Christian D Haudenschild, Narinder I Heyer, Matthew M Hims, Johnny T Ho, Adrian M Horgan, Katya Hoschler, Steve Hurwitz, Denis V Ivanov, Maria Q Johnson, Terena James, TA Huw Jones, Gyoung-Dong Kang, Tzvetana H Kerelska, Alan D Kersey, Irina Khrebtukova, Alex P Kindwall, Zoya Kingsbury, Paula I Kokko-Gonzales, Anil Kumar, Marc A Laurent, Cynthia T Lawley, Sarah E Lee, Xavier Lee, Arnold K Liao, Jennifer A Loch, Mitch Lok, Shujun Luo, Radhika M Mammen, John W Martin, Patrick G McCauley, Paul McNitt, Parul Mehta, Keith W Moon, Joe W Mullens, Taksina Newington, Zemin Ning, Bee Ling Ng, Sonia M Novo, Michael J O’Neill, Mark A Osborne, Andrew Osnowski, Omead Ostadan, Lambros L Paraschos, Lea Pickering, Andrew C Pike, Alger C Pike, D Chris Pinkard, Daniel P Pliskin, Joe Podhasky, Victor J Quijano, Come Raczy, Vicki H Rae, Stephen R Rawlings, Ana Chiva Rodriguez, Phyllida M Roe, None, Accurate whole human genome sequencing using reversible terminator chemistry Nature. ,vol. 456, pp. 53- 59 ,(2008) , 10.1038/NATURE07517
Pierre Laurent-Puig, Deniz Pekin, Corinne Normand, Steve K Kotsopoulos, Philippe Nizard, Karla Perez-Toralla, Rachel Rowell, Jeff Olson, Preethi Srinivasan, Delphine Le Corre, Thevy Hor, Zakaria El Harrak, Xinyu Li, Darren R Link, Olivier Bouché, Jean-François Emile, Bruno Landi, Valérie Boige, J Brian Hutchison, Valerie Taly, None, Clinical Relevance of KRAS-Mutated Subclones Detected with Picodroplet Digital PCR in Advanced Colorectal Cancer Treated with Anti-EGFR Therapy Clinical Cancer Research. ,vol. 21, pp. 1087- 1097 ,(2015) , 10.1158/1078-0432.CCR-14-0983
Katharina J Hoff, The effect of sequencing errors on metagenomic gene prediction. BMC Genomics. ,vol. 10, pp. 520- 520 ,(2009) , 10.1186/1471-2164-10-520
Ya-Sian Chang, Tze-Kiong Er, Hsiu-Chin Lu, Kun-Tu Yeh, Jan-Gowth Chang, Detection of KRAS codon 12 and 13 mutations by mutant-enriched PCR assay Clinica Chimica Acta. ,vol. 436, pp. 169- 175 ,(2014) , 10.1016/J.CCA.2014.05.008
Zandra C Deans, Neil Bilbe, Brendan O'Sullivan, Lazarus P Lazarou, David Gonzalez de Castro, Suzanne Parry, Andrew Dodson, Philippe Taniere, Caroline Clark, Rachel Butler, Improvement in the quality of molecular analysis of EGFR in non-small-cell lung cancer detected by three rounds of external quality assessment Journal of Clinical Pathology. ,vol. 66, pp. 319- 325 ,(2013) , 10.1136/JCLINPATH-2012-201227